National Genomics Infrastructure

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SciLifeLab Infrastructure Unit from 2020, combining the four previous NGI Sweden units.

Primary: Shown in the list of current labels, if end date is not specified.

Started: 2020

Ended: Current

Year 2025

PubMed DOI Crossref
Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancer.
Sur I, Zhao W, Zhang J, ..., de la Roche M, Taipale J
Life Sci. Alliance 8 (6) - [2025-06-00; online 2025-04-03]
NGI Single cell [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Frequent Hybridisation Between Parapatric Lekking Bird-of-Paradise Species.
Thörn F, Müller IA, Soares AER, ..., Blom MPK, Irestedt M
Mol. Ecol. 34 (11) e17780 [2025-06-00; online 2025-04-29]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diel Bacterioplankton Community Dynamics Under Contrasting Light Regimes.
Papadopoulou S, Linkhorst A, Balmonte JP, ..., Bertilsson S, Székely AJ
Environ Microbiol Rep 17 (3) e70099 [2025-06-00; online 2025-05-09]
NGI Short read [Service] NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microbial transfer through fecal strings on eggs affects leaf beetle microbiome dynamics.
An Y, Garcia SL, Hambäck PA
mSystems - (-) e0172324 [2025-05-13; online 2025-05-13]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CpG island methylator phenotype classification improves risk assessment in pediatric T-cell acute lymphoblastic leukemia.
Schäfer Hackenhaar F, Refhagen N, Hagleitner M, ..., Hultdin M, Degerman S
Blood 145 (19) 2161-2178 [2025-05-08; online 2025-01-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gut microbiota mediates SREBP-1c-driven hepatic lipogenesis and steatosis in response to zero-fat high-sucrose diet.
Bergentall M, Tremaroli V, Sun C, ..., Nieuwdorp M, Bäckhed F
Mol Metab 97 (-) 102162 [2025-05-07; online 2025-05-07]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Green Listed v2.0: A Web Application for Streamlined Design of Custom CRISPR Screens.
Henkel E, Li Z, Uvehag D, ..., Henkel M, Wermeling F
CRISPR J - (-) - [2025-05-07; online 2025-05-07]
CRISPR Functional Genomics [Technology development] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell MultiOmics and spatial transcriptomics demonstrate neuroblastoma developmental plasticity.
Xu Y, Lou D, Chen P, ..., Hu Y, Wang J
Dev. Cell - (-) - [2025-05-06; online 2025-05-06]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Museum Ecologies
Fredengren C, Ewing A, Owman C, Holmstedt J
Mus. Soc. 23 (1) - [2025-05-01; online 2025-05-01]
Ancient DNA [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Constraints to gene flow increase the risk of genome erosion in the Ngorongoro Crater lion population.
Dussex N, Jansson I, van der Valk T, ..., E Mjingo E, Spong G
Commun Biol 8 (1) 640 [2025-04-21; online 2025-04-21]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Nuclear AGO2 supports influenza A virus replication through type-I interferon regulation.
Huang H, Fong M, Nowak I, ..., Angeletti D, Sarshad AA
Nucleic Acids Res. 53 (7) - [2025-04-10; online 2025-04-12]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ectoderm barcoding reveals neural and cochlear compartmentalization.
de Haan S, He J, Corbat AA, ..., Kelley MW, Andersson ER
Science 388 (6742) 60-68 [2025-04-04; online 2025-04-03]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Million Years of Mammoth Mitogenome Evolution.
Chacón-Duque JC, Thomas Thorpe JA, Li W, ..., Heintzman PD, Dalén L
Mol. Biol. Evol. 42 (4) - [2025-04-01; online 2025-04-09]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study of imaging-defined atherosclerosis.
Gummesson A, Lundmark P, Chen QS, ..., Fall T, Gigante B
Nat Commun 16 (1) 2266 [2025-03-31; online 2025-03-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex pheromone biosynthesis in the Oriental fruit moth Grapholita molesta involves Δ8 desaturation.
Dam MI, Ding BJ, Brauburger K, ..., Heckel DG, Löfstedt C
Insect Biochem. Mol. Biol. - (-) 104307 [2025-03-30; online 2025-03-30]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Phylogeny of Palicoureeae (Rubiaceae) based on 353 low-copy nuclear genes - With particular focus on Hymenocoleus Robbr.
Thilén L, Lachenaud O, Thureborn O, Razafimandimbison SG, Rydin C
Mol. Phylogenet. Evol. - (-) 108338 [2025-03-28; online 2025-03-28]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of a SNAI1 enhancer RNA that drives cancer cell plasticity.
Fan C, Wang Q, Krijger PHL, ..., de Laat W, Ten Dijke P
Nat Commun 16 (1) 2890 [2025-03-25; online 2025-03-25]
CRISPR Functional Genomics [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Neural ensembles that encode nocifensive mechanical and heat pain in mouse spinal cord.
Zhang MD, Kupari J, Su J, ..., Lagerström MC, Ernfors P
Nat. Neurosci. - (-) - [2025-03-24; online 2025-03-24]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intestinal estrogen receptor beta modulates the murine colon tumor immune microenvironment.
Birgersson M, Holm M, Gallardo-Dodd CJ, ..., Archer A, Williams C
Cancer Lett. - (-) 217661 [2025-03-20; online 2025-03-20]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sox9 and nuclear factor I transcription factors regulate the timing of neurogenesis and ependymal maturation in dopamine progenitors.
Lahti L, Volakakis N, Gillberg L, ..., Gronostajski R, Perlmann T
Development 152 (6) - [2025-03-15; online 2025-03-26]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Continuous map of early hematopoietic stem cell differentiation across human lifetime.
Komic H, Schmachtel T, Simoes C, ..., Thorén FB, Rieger MA
Nat Commun 16 (1) 2287 [2025-03-07; online 2025-03-07]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive Gene Expression Analysis in Papillary Thyroid Carcinoma Reveals a Transcriptional Profile Associated with Reduced Radioiodine Avidity.
Condello V, Marchettini C, Ihre-Lundgren C, Nilsson JN, Juhlin CC
Endocr. Pathol. 36 (1) 4 [2025-02-21; online 2025-02-21]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Temporal dynamics of airborne fungi in Swedish forest nurseries.
Larsson R, Menkis A, Olson Å
Appl. Environ. Microbiol. 91 (2) e0130624 [2025-02-19; online 2025-01-16]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A chromosome-level genome assembly of the European green toad (Bufotes viridis).
Rödin-Mörch P, Bunikis I, Choi E, ..., Proux-Wéra E, Höglund J
G3 (Bethesda) - (-) - [2025-02-19; online 2025-02-19]
NGI Long read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Microbial communities in slow sand filters for drinking water treatment adapt to organic matter altered by ozonation.
Rosenqvist T, Hilding J, Suarez C, Paul CJ
Water Res. 270 (-) 122843 [2025-02-15; online 2024-11-23]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methodological aspects of investigating the resistome in pig farm environments.
Ladyhina V, Rajala E, Sternberg-Lewerin S, ..., Bongcam-Rudloff E, Dicksved J
J Microbiol Methods 230-231 (-) 107103 [2025-02-13; online 2025-02-13]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.
Sayadi A, Sandling JK, Eloranta ML, ..., Rönnblom L, DISSECT Consortium
Lupus Sci Med 12 (1) - [2025-02-11; online 2025-02-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing in early onset advanced heart failure.
Linnér E, Czuba T, Gidlöf O, ..., Ehrencrona H, Smith JG
Sci Rep 15 (1) 4306 [2025-02-05; online 2025-02-05]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The expanded genome of Hexamita inflata, a free-living diplomonad.
Akdeniz Z, Havelka M, Stoklasa M, ..., Andersson JO, Tachezy J
Sci Data 12 (1) 192 [2025-02-01; online 2025-02-01]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Modelling age at death reveals Nordic Corded Ware paleodemography
Tornberg A, Vandkilde H
Archaeol Anthropol Sci 17 (2) - [2025-02-00; online 2025-01-20]
Ancient DNA [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Impact of excess sugar on the whole genome DNA methylation pattern in human sperm.
Jönsson J, Perfilyev A, Kugelberg U, ..., Öst A, Ling C
Epigenomics 17 (2) 89-104 [2025-02-00; online 2024-12-20]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evolved and Plastic Gene Expression in Adaptation of a Specialist Fly to a Novel Niche.
Steward RA, Ortega Giménez J, Choudhary S, ..., Van Aken O, Runemark A
Mol. Ecol. 34 (4) e17653 [2025-02-00; online 2025-01-09]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Earliest modern human genomes constrain timing of Neanderthal admixture.
Sümer AP, Rougier H, Villalba-Mouco V, ..., Prüfer K, Krause J
Nature 638 (8051) 711-717 [2025-02-00; online 2024-12-12]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diffusion Smart-seq3 of breast cancer spheroids to explore spatial tumor biology and test evolutionary principles of tumor heterogeneity.
Cougnoux A, Mahmoud L, Johnsson PA, ..., Sandberg R, Hausser J
Sci Rep 15 (1) 3811 [2025-01-30; online 2025-01-30]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exploring a pico-well based scRNA-seq method (HIVE) for simplified processing of equine bronchoalveolar lavage cells.
Fegraeus K, Riihimäki M, Nordlund J, ..., Wernersson S, Raine A
PLoS ONE 20 (1) e0317343 [2025-01-24; online 2025-01-24]
NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C
Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chromosome-scale genome assembly reveals how repeat elements shape non-coding RNA landscapes active during newt limb regeneration.
Brown T, Mishra K, Elewa A, ..., Yun MH, Simon A
Cell Genomics - (-) 100761 [2025-01-22; online 2025-01-22]
NGI Other NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Systems-level immunomonitoring in children with solid tumors to enable precision medicine.
Chen Q, Zhao B, Tan Z, ..., Ljungblad L, Brodin P
Cell - (-) - [2025-01-17; online 2025-01-17]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Spatial transcriptomics unveils estrogen-modulated immune responses and structural alterations in the ectocervical mucosa of depot medroxyprogesterone acetate users.
Kaldhusdal V, Boger MF, Tjernlund A, ..., Czarnewski P, Broliden K
Sci Rep 15 (1) 1014 [2025-01-06; online 2025-01-06]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Spatial omics [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell proteo-transcriptomic profiling reveals altered characteristics of stem and progenitor cells in patients receiving cytoreductive hydroxyurea in early-phase chronic myeloid leukemia.
Komic H, Nilsson MS, Wennström L, ..., Thorén FB, Martner A
Haematologica 110 (1) 117-128 [2025-01-01; online 2025-01-01]
NGI Short read [Service] NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dark carbon fixation is a common process in the water column of stratified boreal lakes.
Martin G, Rissanen AJ, Garcia SL, Peura S
Sci. Total Environ. 958 (-) 177433 [2025-01-01; online 2024-12-10]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trees First Inhibit Then Promote Litter Decomposition in the Subarctic.
Jonsson M, Clemmensen KE, Castaño C, Parker TC
Ecol. Lett. 28 (1) e70063 [2025-01-00; online 2025-01-20]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Year 2024

PubMed DOI Crossref
Identification of novel FosX family determinants from diverse environmental samples.
Kieffer N, Böhm ME, Berglund F, ..., Gillings MR, Larsson DGJ
J Glob Antimicrob Resist 41 (-) 8-14 [2024-12-24; online 2024-12-24]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Phthalate esters in baltic lagoons: Spatial distribution, ecological risks, and novel insights into their fate using transcriptomics.
Lorre E, Bianchi F, Broman E, ..., Woźniczka A, Zilius M
Sci. Total Environ. 957 (-) 177526 [2024-12-20; online 2024-11-18]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Spatiotemporal single-cell roadmap of human skin wound healing.
Liu Z, Bian X, Luo L, ..., Li D, Landén NX
Cell Stem Cell - (-) - [2024-12-18; online 2024-12-18]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete genome sequences of the prosthecate dimorphic bacteria Brevundimonas intermedia CB63T and Brevundimonas staleyi FWC43T.
Hallgren J, Daneby F, Jonas K
Microbiol Resour Announc 13 (12) e0105024 [2024-12-12; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Naturally acquired IgG responses to Plasmodium falciparum do not target the conserved termini of the malaria vaccine candidate Merozoite Surface Protein 2.
Zerebinski J, Margerie L, Han NS, ..., Färnert A, Plaza DF
Front Immunol 15 (-) 1501700 [2024-12-09; online 2024-12-09]
Autoimmunity and Serology Profiling [Collaborative] Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Ek M, Kvarnung M, Pettersson M, ..., Eisfeldt J, Lindstrand A
Sci Rep 14 (1) 30343 [2024-12-05; online 2024-12-05]
NGI Long read [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.
Backman S, Botling J, Nord H, ..., Åkerström T, Crona J
J. Pathol. 264 (4) 357-370 [2024-12-00; online 2024-10-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Lifestyle, biological, and genetic factors related to brain iron accumulation across adulthood.
Gustavsson J, Ištvánfyová Z, Papenberg G, ..., Mangialasche F, Kalpouzos G
Neurobiol. Aging 144 (-) 56-67 [2024-12-00; online 2024-09-10]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.
Chen LL, Naesström M, Halvorsen M, ..., Crowley JJ, Pascal D
Am. J. Med. Genet. B Neuropsychiatr. Genet. 195 (8) e32983 [2024-12-00; online 2024-04-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genomic signals of adaptation to a natural CO2 gradient over a striking microgeographic scale
González-Delgado S, Pérez-Portela R, Ortega-Martínez O, ..., Pereyra RT, Hernández JC
Marine Pollution Bulletin 209 (-) 117225 [2024-12-00; online 2024-12-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic diversity insights from population genomics and machine learning tools for Nordic Arctic charr (Salvelinus alpinus) populations
Palaiokostas C, Kurta K, Pappas F, ..., Janhunen M, Kause A
Aquaculture Reports 39 (-) 102495 [2024-12-00; online 2024-12-00]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A transcriptome atlas of zygotic and somatic embryogenesis in Norway spruce.
Stojkovič K, Canovi C, Le KC, ..., Egertsdotter U, Street NR
Plant J. 120 (5) 2238-2252 [2024-12-00; online 2024-10-27]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A dataset of 40 assembled and annotated transcriptomes from 34 species in Silene and related genera.
Cangren P, Bertrand YJK, Braverman JM, ..., Hamilton MB, Oxelman B
Data Brief 57 (-) 111094 [2024-12-00; online 2024-11-01]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.
De Coster W, Höijer I, Bruggeman I, ..., Ameur A, Rademakers R
Genome Res. 34 (11) 2074-2080 [2024-11-20; online 2024-11-20]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Systematic screens for fertility genes essential for malaria parasite transmission reveal conserved aspects of sex in a divergent eukaryote.
Sayers C, Pandey V, Balakrishnan A, ..., Berntsson R, Billker O
Cell Syst 15 (11) 1075-1091.e6 [2024-11-20; online 2024-11-13]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.
Eisfeldt J, Higginbotham EJ, Lenner F, ..., Scherer SW, Feuk L
Genome Res. 34 (11) 1763-1773 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A
Genome Res. 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A
Genome Res. 34 (11) 1774-1784 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives.
Samola Winnberg J, Vermani L, Liu W, ..., Lindblad M, Lindblom A
Hered Cancer Clin Pract 22 (1) 25 [2024-11-14; online 2024-11-14]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DMI fungicide resistance in Zymoseptoria tritici is unlinked to geographical origin and genetic background: a case study in Europe.
Oreiro EG, Samils B, Kildea S, ..., Zhan J, Andersson B
Pest Manag Sci - (-) - [2024-11-06; online 2024-11-06]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Urban Pigeons as Reservoirs of Critical Pathogens: Improved protocol for sequencing pigeon faeces in disease monitoring
Hermann E, Van Damme R, Bongcam-Rudloff E, Nasirzadeh L
EMBnet j. 30 (-) e1059 [2024-11-04; online 2024-11-04]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Perfluorooctanesulfonic acid (PFOS) induced cancer related DNA methylation alterations in human breast cells: A whole genome methylome study.
Pierozan P, Höglund A, Theodoropoulou E, Karlsson O
Sci. Total Environ. 949 (-) 174864 [2024-11-01; online 2024-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.
Hägerstrand D, Oder B, Cortese D, ..., Sutton LA, Rosenquist R
Leukemia 38 (11) 2429-2442 [2024-11-00; online 2024-09-11]
Bioinformatics Support for Computational Resources [Service] Global Proteomics and Proteogenomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The TβRI promotes migration and metastasis through thrombospondin 1 and ITGAV in prostate cancer cells.
Mu Y, Wallenius A, Zang G, ..., Mateus A, Landström M
Oncogene 43 (45) 3321-3334 [2024-11-00; online 2024-09-20]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
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Aguirre Rivera J, Mao G, Sabantsev A, ..., Jinek M, Deindl S
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The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals.
Gong T, Karlsson R, Yao S, ..., Fall T, Almqvist C
G3 (Bethesda) 14 (8) - [2024-08-07; online 2024-05-31]
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Few chemoreceptor genes in the ambrosia beetle Trypodendron lineatum may reflect its specialized ecology.
Biswas T, Vogel H, Biedermann PHW, ..., Yuvaraj JK, Andersson MN
BMC Genomics 25 (1) 764 [2024-08-06; online 2024-08-06]
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Ecological genomics in the Northern krill uncovers loci for local adaptation across ocean basins.
Unneberg P, Larsson M, Olsson A, ..., Meyer B, Wallberg A
Nat Commun 15 (1) 6297 [2024-08-01; online 2024-08-01]
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Why we thrive beneath a northern sky - genomic signals of selection in apple for adaptation to northern Sweden.
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Heredity (Edinb) 133 (2) 67-77 [2024-08-00; online 2024-06-04]
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Selection against domestication alleles in introduced rabbit populations.
Andrade P, Alves JM, Pereira P, ..., Andersson L, Carneiro M
Nat Ecol Evol 8 (8) 1543-1555 [2024-08-00; online 2024-06-21]
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Schneider K, Steward RA, Celorio-Mancera MdlP, ..., Wheat CW, Nylin S
Mol. Ecol. 33 (16) e17479 [2024-08-00; online 2024-07-22]
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Larsson R, Menkis A, Olson Å
For. Path. 54 (4) - [2024-08-00; online 2024-08-05]
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Dominance between self-incompatibility alleles determines the mating system of Capsella allopolyploids.
Duan T, Zhang Z, Genete M, ..., Castric V, Vekemans X
Evolution Letters 8 (4) 550-560 [2024-08-00; online 2024-03-17]
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Detection of transcriptome-wide microRNA-target interactions in single cells with agoTRIBE.
Sekar V, Mármol-Sánchez E, Kalogeropoulos P, ..., Biryukova I, Friedländer MR
Nat. Biotechnol. 42 (8) 1296-1302 [2024-08-00; online 2023-09-21]
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Lysenkova Wiklander M, Arvidsson G, Bunikis I, ..., Ameur A, Nordlund J
Life Sci. Alliance 7 (8) - [2024-08-00; online 2024-05-22]
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A pipeline for identification of causal mutations in barley identifies Xantha-j as the chlorophyll synthase gene.
Stuart D, Zakhrabekova S, Jørgensen ME, Dockter C, Hansson M
Plant Physiol. 195 (4) 2877-2890 [2024-07-31; online 2024-04-17]
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A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis.
Pahlevan Kakhki M, Giordano A, Starvaggi Cucuzza C, ..., Kular L, Jagodic M
Nat Commun 15 (1) 6419 [2024-07-30; online 2024-07-30]
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Multi-compartmental diversification of neutralizing antibody lineages dissected in SARS-CoV-2 spike-immunized macaques.
Mandolesi M, Das H, de Vries L, ..., Murrell B, Karlsson Hedestam GB
Nat Commun 15 (1) 6338 [2024-07-27; online 2024-07-27]
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Hybridization in birds-of-paradise: Widespread ancestral gene flow despite strong sexual selection in a lek-mating system.
Blom MPK, Peona V, Prost S, ..., Suh A, Irestedt M
iScience 27 (7) 110300 [2024-07-19; online 2024-06-19]
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The rate of W chromosome degeneration across multiple avian neo-sex chromosomes.
Sigeman H, Downing PA, Zhang H, Hansson B
Sci Rep 14 (1) 16548 [2024-07-17; online 2024-07-17]
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Temporal dynamics of woolly mammoth genome erosion prior to extinction.
Dehasque M, Morales HE, Díez-Del-Molino D, ..., Vartanyan S, Dalén L
Cell 187 (14) 3531-3540.e13 [2024-07-11; online 2024-06-27]
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.
Grochowski CM, Bengtsson JD, Du H, ..., Lupski JR, Carvalho CMB
Cell Genomics 4 (7) 100590 [2024-07-10; online 2024-06-21]
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DNA methylation of exercise-responsive genes differs between trained and untrained men.
Geiger C, Needhamsen M, Emanuelsson EB, ..., Reitzner SM, Lindholm ME
BMC Biol. 22 (1) 147 [2024-07-04; online 2024-07-04]
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Limited Parallelism in Genetic Adaptation to Brackish Water Bodies in European Sprat and Atlantic Herring.
Pettersson ME, Quintela M, Besnier F, ..., Glover KA, Andersson L
Genome Biol Evol 16 (7) - [2024-07-03; online 2024-06-26]
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Comparative Genomic Analysis of the Pattern of Evolution of Male and Female Reproductive Proteins in Seed Beetles.
Papachristos K, Sayadi A, Arnqvist G
Genome Biol Evol 16 (7) - [2024-07-03; online 2024-06-28]
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Unravelling reference bias in ancient DNA datasets.
Dolenz S, van der Valk T, Jin C, ..., Dalén L, Heintzman PD
Bioinformatics 40 (7) - [2024-07-01; online 2024-07-04]
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Clinical and genetic factors associated with tumor response to neoadjuvant (chemo)radiotherapy, survival and recurrence risk in rectal cancer.
Hammarström K, Nunes L, Mathot L, ..., Sjöblom T, Glimelius B
Int. J. Cancer 155 (1) 40-53 [2024-07-01; online 2024-02-20]
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Distinct origin and region-dependent contribution of stromal fibroblasts to fibrosis following traumatic injury in mice.
Holl D, Hau WF, Julien A, ..., Dias DO, Göritz C
Nat. Neurosci. 27 (7) 1285-1298 [2024-07-00; online 2024-06-07]
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Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets.
Rönn T, Perfilyev A, Oskolkov N, Ling C
Sci Rep 14 (1) 14637 [2024-06-25; online 2024-06-25]
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Chromosome-level genome assembly and annotation of the social amoeba Dictyostelium firmibasis.
Edelbroek B, Kjellin J, Jerlström-Hultqvist J, Koskiniemi S, Söderbom F
Sci Data 11 (1) 678 [2024-06-22; online 2024-06-22]
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Completed genome and emergence scenario of the multidrug-resistant nosocomial pathogen Staphylococcus epidermidis ST215.
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BMC Microbiol. 24 (1) 215 [2024-06-19; online 2024-06-19]
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Intra-Individual Variations in How Insulin Sensitivity Responds to Long-Term Exercise: Predictions by Machine Learning Based on Large-Scale Serum Proteomics.
Viken JK, Olsen T, Drevon CA, ..., Norheim F, Lee-Ødegård S
Metabolites 14 (6) - [2024-06-15; online 2024-06-15]
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Integrative transcriptomic and proteomic profiling of the effects of cell confluency on gene expression.
Lobo V, Shcherbinina E, Westholm JO, ..., Anastasakis DG, Sarshad AA
Sci Data 11 (1) 617 [2024-06-12; online 2024-06-12]
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Climate change induces shifts in coastal Baltic Sea surface water microorganism stress and photosynthesis gene expression.
Seidel L, Broman E, Ståhle M, ..., Ketzer M, Dopson M
Front Microbiol 15 (-) 1393538 [2024-06-07; online 2024-06-07]
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ASXLs binding to the PHD2/3 fingers of MLL4 provides a mechanism for the recruitment of BAP1 to active enhancers.
Zhang Y, Xie G, Lee JE, ..., Ge K, Kutateladze TG
Nat Commun 15 (1) 4883 [2024-06-07; online 2024-06-07]
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MLL4 binds TET3.
Becht DC, Mohid SA, Lee JE, ..., Zhang Y, Kutateladze TG
Structure 32 (6) 706-714.e3 [2024-06-06; online 2024-04-04]
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Detection of rare variants among nuclei populating the arbuscular mycorrhizal fungal model species Rhizophagus irregularis DAOM197198.
Manyara D, Sánchez-García M, Montoliu-Nerin M, Rosling A
G3 (Bethesda) 14 (6) - [2024-06-05; online 2024-04-24]
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Ancient Sheep Genomes Reveal Four Millennia of North European Short-Tailed Sheep in the Baltic Sea Region.
Larsson MNA, Morell Miranda P, Pan L, ..., Storå J, Günther T
Genome Biol Evol 16 (6) - [2024-06-04; online 2024-05-25]
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Spatial Transcriptomics in a Case of Follicular Thyroid Carcinoma Reveals Clone-Specific Dysregulation of Genes Regulating Extracellular Matrix in the Invading Front.
Condello V, Paulsson JO, Zedenius J, Näsman A, Juhlin CC
Endocr. Pathol. 35 (2) 122-133 [2024-06-00; online 2024-01-27]
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Phylogenomic analysis of Stylops reveals the evolutionary history of a Holarctic Strepsiptera radiation parasitizing wild bees.
Lähteenaro M, Benda D, Straka J, Nylander JAA, Bergsten J
Mol. Phylogenet. Evol. 195 (-) 108068 [2024-06-00; online 2024-03-28]
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Macrophages upregulate mural cell-like markers and support healing of ischemic injury by adopting functions important for vascular support.
Amoedo-Leite C, Parv K, Testini C, ..., Christoffersson G, Phillipson M
Nat Cardiovasc Res 3 (6) 685-700 [2024-06-00; online 2024-06-06]
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Expedient Bayesian prediction of subfossil bone protein content using portable ATR-FTIR data
Hixon S, Roberts P, Rodríguez-Varela R, ..., Lagia A, Fernandes R
Quaternary International 694 (-) 1-12 [2024-06-00; online 2024-06-00]
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An endothelial regulatory module links blood pressure regulation with elite athletic performance.
Fegraeus K, Rosengren MK, Naboulsi R, ..., Meadows JRS, Lindgren G
PLoS Genet. 20 (6) e1011285 [2024-06-00; online 2024-06-17]
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Regulatory and evolutionary impact of DNA methylation in two songbird species and their naturally occurring F1 hybrids.
Boman J, Qvarnström A, Mugal CF
BMC Biol. 22 (1) 124 [2024-05-29; online 2024-05-29]
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Species-specific dynamics may cause deviations from general biogeographical predictions - evidence from a population genomics study of a New Guinean endemic passerine bird family (Melampittidae).
Müller IA, Thörn F, Rajan S, ..., Jønsson KA, Irestedt M
PLoS ONE 19 (5) e0293715 [2024-05-23; online 2024-05-23]
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Saccharomyces cerevisiae strains performing similarly during fermentation of lignocellulosic hydrolysates show pronounced differences in transcriptional stress responses.
Cámara E, Mormino M, Siewers V, Nygård Y
Appl. Environ. Microbiol. 90 (5) e0233023 [2024-05-21; online 2024-04-08]
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Plastid phylogenomics and cytonuclear discordance in Rubioideae, Rubiaceae.
Thureborn O, Wikström N, Razafimandimbison SG, Rydin C
PLoS ONE 19 (5) e0302365 [2024-05-20; online 2024-05-20]
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MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma.
Sydow S, Piccinelli P, Mitra S, ..., Spierings D, Mertens F
Commun Biol 7 (1) 606 [2024-05-20; online 2024-05-20]
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Defining the contribution of Troy-positive progenitor cells to the mouse esophageal epithelium.
Grommisch D, Wang M, Eenjes E, ..., Giselsson P, Genander M
Dev. Cell 59 (10) 1269-1283.e6 [2024-05-20; online 2024-04-01]
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Prediction models of persistent taxane-induced peripheral neuropathy among breast cancer survivors using whole-exome sequencing.
Engvall K, Uvdal H, Björn N, Åvall-Lundqvist E, Gréen H
NPJ Precis Oncol 8 (1) 102 [2024-05-16; online 2024-05-16]
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Complex genetic architecture of the chicken Growth1 QTL region.
Ou JH, Rönneburg T, Carlborg Ö, ..., Siegel PB, Rubin CJ
PLoS ONE 19 (5) e0295109 [2024-05-13; online 2024-05-13]
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Copy number variation and elevated genetic diversity at immune trait loci in Atlantic and Pacific herring.
Mohamadnejad Sangdehi F, Jamsandekar MS, Enbody ED, Pettersson ME, Andersson L
BMC Genomics 25 (1) 459 [2024-05-10; online 2024-05-10]
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The super-pangenome of Populus unveils genomic facets for its adaptation and diversification in widespread forest trees.
Shi T, Zhang X, Hou Y, ..., Yin T, Wang J
Mol Plant 17 (5) 725-746 [2024-05-06; online 2024-03-13]
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Colonial-driven extinction of the blue antelope despite genomic adaptation to low population size.
Hempel E, Faith JT, Preick M, ..., Westbury MV, Hofreiter M
Curr. Biol. 34 (9) 2020-2029.e6 [2024-05-06; online 2024-04-12]
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Meiotic drive against chromosome fusions in butterfly hybrids.
Boman J, Wiklund C, Vila R, Backström N
Chromosome Res. 32 (2) 7 [2024-05-04; online 2024-05-04]
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Genetic Causes and Genomic Consequences of Breakdown of Distyly in Linum trigynum.
Gutiérrez-Valencia J, Zervakis P, Postel Z, ..., Arroyo J, Slotte T
Mol. Biol. Evol. 41 (5) - [2024-05-03; online 2024-05-06]
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Maintenance of caecal homeostasis by diverse adaptive immune cells in the rhesus macaque.
Castro Dopico X, Guryleva M, Mandolesi M, ..., Murrell B, Karlsson Hedestam GB
Clin Transl Immunology 13 (5) e1508 [2024-05-02; online 2024-05-02]
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Growth and mortality rates of picophytoplankton in the Baltic Sea Proper
Alegria Zufia J, Laber C, Legrand C, Lindehoff E, Farnelid H
Mar. Ecol. Prog. Ser. 735 (-) 63-76 [2024-05-02; online 2024-05-02]
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Sex-biased gene expression during neural differentiation of human embryonic stem cells
Pottmeier P, Nikolantonaki D, Lanner F, Peuckert C, Jazin E
Front Cell Dev Biol 12 (-) - [2024-05-01; online 2024-05-01]
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Male-transmitted transgenerational effects of the herbicide linuron on DNA methylation profiles in Xenopus tropicalis brain and testis.
Roza M, Eriksson ANM, Svanholm S, Berg C, Karlsson O
Sci. Total Environ. 923 (-) 170949 [2024-05-01; online 2024-02-15]
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Chromatin accessibility during human first-trimester neurodevelopment.
Mannens CCA, Hu L, Lönnerberg P, ..., Posthuma D, Linnarsson S
Nature - (-) - [2024-05-01; online 2024-05-01]
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Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E, Conner P, Pettersson M, ..., Lindstrand A, Iwarsson E
Ultrasound Obstet Gynecol 63 (5) 658-663 [2024-05-00; online 2024-04-14]
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Unlocking the secret life of blue mussels: Exploring connectivity in the Skagerrak through biophysical modeling and population genomics.
Gustafsson M, Strand Å, Laugen AT, ..., Wrange AL, De Wit P
Evol Appl 17 (5) e13704 [2024-05-00; online 2024-05-20]
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Ruxolitinib: A new hope for ventilator-induced diaphragm dysfunction.
Addinsall AB, Cacciani N, Moruzzi N, ..., Kirkland JL, Larsson L
Acta Physiol (Oxf) 240 (5) e14128 [2024-05-00; online 2024-03-29]
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Head-to-head comparison of relevant cell sources of small extracellular vesicles for cardiac repair: Superiority of embryonic stem cells.
González-King H, Rodrigues PG, Albery T, ..., Wang QD, Jennbacken K
J Extracell Vesicles 13 (5) e12445 [2024-05-00; online 2024-05-07]
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Fluorescently labeled prey surrogates in combination with fluorescence‐activated cell sorting successfully discriminate actively feeding mixotrophs in a lake water sample
Florenza J, Divne A, Bertilsson S
Limnol Oceanogr 69 (5) 1030-1044 [2024-05-00; online 2024-03-13]
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Ectomycorrhizal fungi are more sensitive to high soil nitrogen levels in forests exposed to nitrogen deposition.
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New Phytol. 242 (4) 1725-1738 [2024-05-00; online 2024-01-11]
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Atağ G, Kaptan D, Yüncü E, ..., Hadjisterkotis E, Somel M
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Tsardakas Renhuldt N, Bentzer J, Ahrén D, Marmon S, Sirijovski N
Front Plant Sci 15 (-) 1358490 [2024-04-26; online 2024-04-26]
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Nat Commun 15 (1) 3475 [2024-04-24; online 2024-04-24]
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Vannas C, Escobar M, Österlund T, ..., Fagman H, Ståhlberg A
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Clin Epigenetics 16 (1) 49 [2024-03-28; online 2024-03-28]
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Effects of microgravity on neural crest stem cells.
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Nucleic Acids Res. 52 (5) 2648-2671 [2024-03-21; online 2024-01-05]
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Sci Rep 14 (1) 5630 [2024-03-07; online 2024-03-07]
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Loss of chromosome Y in regulatory T cells.
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fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles.
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High-Quality Genome Assemblies of 4 Members of the Podospora anserina Species Complex.
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Kupffer cells dictate hepatic responses to the atherogenic dyslipidemic insult.
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Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries.
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
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Genetic constraints in genes exhibiting splicing plasticity in facultative diapause.
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Heredity (Edinb) 132 (3) 142-155 [2024-03-00; online 2024-01-30]
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Enhancer mutations modulate the severity of chemotherapy-induced myelosuppression.
Zhigulev A, Norberg Z, Cordier J, ..., Gréen H, Sahlén P
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Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening.
Gezelius H, Enblad AP, Lundmark A, ..., Andersson C, Nordlund J
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Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs.
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PLoS ONE 19 (2) e0299075 [2024-02-29; online 2024-02-29]
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Rengefors K, Annenkova N, Wallenius J, ..., Kremp A, Ahrén D
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Nat Commun 15 (1) 1768 [2024-02-27; online 2024-02-27]
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Cancers (Basel) 16 (5) - [2024-02-27; online 2024-02-27]
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Intestinal stroma guides monocyte differentiation to macrophages through GM-CSF.
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Microb. Ecol. 87 (1) 48 [2024-02-26; online 2024-02-26]
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Mold JE, Weissman MH, Ratz M, ..., Michaëlsson J, Frisén J
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Hold K, Lord E, Brealey JC, ..., Martin MD, Dussex N
Sci Rep 14 (1) 4143 [2024-02-20; online 2024-02-20]
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Long noncoding RNA plasmacytoma variant translocation 1 is overexpressed in cutaneous squamous cell carcinoma and exon 2 is critical for its oncogenicity.
Li C, Sun C, Mahapatra KD, ..., Sonkoly E, Pivarcsi A
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Sustained looking at faces at 5 months of age is associated with socio-communicative skills in the second year of life.
Viktorsson C, Portugal AM, Taylor MJ, Ronald A, Falck-Ytter T
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Dube F, Delhomme N, Martin F, ..., Svärd S, Tydén E
PLoS ONE 19 (2) e0298039 [2024-02-15; online 2024-02-15]
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Genetic and environmental contributions to gaze lateralization across social and non-social stimuli in human infants.
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Phylogeography and phenotypic wing shape variation in a damselfly across populations in Europe.
Yildirim Y, Kristensson D, Outomuro D, ..., Sniegula S, Johansson F
BMC Ecol Evol 24 (1) 19 [2024-02-03; online 2024-02-03]
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A Chromosome-Level Genome Assembly and Annotation for the Clouded Apollo Butterfly (Parnassius mnemosyne): A Species of Global Conservation Concern.
Höglund J, Dias G, Olsen RA, ..., Talla V, Backström N
Genome Biol Evol 16 (2) - [2024-02-01; online 2024-02-18]
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Recent increase in species-wide diversity after interspecies introgression in the highly endangered Iberian lynx.
Lucena-Perez M, Paijmans JLA, Nocete F, ..., Barlow A, Godoy JA
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Multimodal Single-Cell Sequencing of B Cells in Primary Sjögren's Syndrome.
Arvidsson G, Czarnewski P, Johansson A, ..., Nordmark G, Syvänen A
Arthritis & rheumatology (Hoboken, N.J.) 76 (2) 255-267 [2024-02-00; online 2023-12-18]
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Genetic diversity patterns in farmed rainbow trout (Oncorhynchus mykiss) populations using genome-wide SNP and haplotype data.
Longo A, Kurta K, Vanhala T, ..., de Koning DJ, Palaiokostas C
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Gastrointestinal parasite community structure in horses after the introduction of selective anthelmintic treatment strategies.
Halvarsson P, Grandi G, Hägglund S, Höglund J
Vet Parasitol 326 (-) 110111 [2024-02-00; online 2023-12-25]
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Fine-scale genetic structure in the orchid Gymnadenia conopsea is not associated with local density of flowering plants.
Sletvold N, Joffard N, Söderquist L
Am. J. Bot. 111 (2) e16273 [2024-02-00; online 2024-01-30]
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A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile.
Lindelöf L, Rantapää-Dahlqvist S, Lundtoft C, ..., Svenungsson E, Eriksson O
J. Autoimmun. 143 (-) 103166 [2024-02-00; online 2024-01-13]
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Batrachochytrium dendrobatidis strain affects transcriptomic response in liver but not skin in latitudinal populations of the common toad (Bufo bufo).
Chondrelli N, Kuehn E, Meurling S, ..., Laurila A, Höglund J
Sci Rep 14 (1) 2495 [2024-01-30; online 2024-01-30]
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A two-step activation mechanism enables mast cells to differentiate their response between extracellular and invasive enterobacterial infection.
von Beek C, Fahlgren A, Geiser P, ..., Pejler G, Sellin ME
Nat Commun 15 (1) 904 [2024-01-30; online 2024-01-30]
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Single-cell RNA-seq mapping of chicken peripheral blood leukocytes.
Maxwell M, Söderlund R, Härtle S, Wattrang E
BMC Genomics 25 (1) 124 [2024-01-29; online 2024-01-29]
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Genetic diversity and recent ancestry based on whole-genome sequencing of endangered Swedish cattle breeds.
Harish A, Lopes Pinto FA, Eriksson S, Johansson AM
BMC Genomics 25 (1) 89 [2024-01-22; online 2024-01-22]
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Towards high-throughput parallel imaging and single-cell transcriptomics of microbial eukaryotic plankton.
Grujčić V, Saarenpää S, Sundh J, ..., Foster RA, Andersson AF
PLoS ONE 19 (1) e0296672 [2024-01-19; online 2024-01-19]
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Metagenomic analysis of Mesolithic chewed pitch reveals poor oral health among stone age individuals.
Kırdök E, Kashuba N, Damlien H, ..., Aravena A, Götherström A
Sci Rep 13 (1) 22125 [2024-01-18; online 2024-01-18]
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Ciliate Grazing on the Bloom-Forming Microalga Gonyostomum semen.
Bergman I, Lindström ES, Sassenhagen I
Microb. Ecol. 87 (1) 33 [2024-01-18; online 2024-01-18]
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Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.
Moura PL, Mortera-Blanco T, Hofman IJ, ..., Jacobsen SEW, Hellström-Lindberg E
Cancer Res. 84 (2) 211-225 [2024-01-16; online 2023-11-03]
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Differential expression and alternative splicing analyses of multiple tissues reveal albinism-associated genes in the Wels catfish (Silurus glanis).
Ozerov MY, Noreikiene K, Kahar S, ..., Gross R, Vasemägi A
Comp Biochem Physiol B Biochem Mol Biol 271 (-) 110941 [2024-01-11; online 2024-01-11]
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Single-cell genomics of a bloom-forming phytoplankton species reveals population genetic structure across continents.
Gollnisch R, Ahrén D, Rengefors K
ISME J 18 (1) - [2024-01-08; online 2024-03-15]
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Separating phases of allopolyploid evolution with resynthesized and natural Capsella bursa-pastoris.
Duan T, Sicard A, Glémin S, Lascoux M
Elife 12 (-) - [2024-01-08; online 2024-01-08]
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Climate acts as an environmental filter to plant pathogens.
Caballol M, Redondo MÁ, Catalán N, ..., Stenlid J, Oliva J
ISME J 18 (1) - [2024-01-08; online 2024-02-17]
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A pan-genomic approach reveals novel Sulfurimonas clade in the ferruginous meromictic Lake Pavin.
Biderre-Petit C, Courtine D, Hennequin C, ..., Divne A, Hochart C
Mol Ecol Resour - (-) e13923 [2024-01-08; online 2024-01-08]
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Sex-limited experimental evolution drives transcriptomic divergence in a hermaphrodite.
Cīrulis A, Nordén AK, Churcher AM, ..., Zadesenets KS, Abbott JK
Genome Biol Evol 16 (1) - [2024-01-05; online 2023-12-29]
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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius J, Kafantari E, Jhaveri E, ..., Ehrencrona H, Puschmann A
Am. J. Hum. Genet. 111 (1) 82-95 [2024-01-04; online 2023-11-29]
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Identification of a Notch transcriptomic signature for breast cancer.
Braune EB, Geist F, Tang X, ..., Wienke D, Lendahl U
Breast Cancer Res. 26 (1) 4 [2024-01-03; online 2024-01-03]
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Tissue-specific RNA Polymerase II promoter-proximal pause release and burst kinetics in a Drosophila embryonic patterning network.
Hunt G, Vaid R, Pirogov S, ..., Reimegård J, Mannervik M
Genome Biol. 25 (1) 2 [2024-01-02; online 2024-01-02]
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Functional annotation of a divergent genome using sequence and structure-based similarity.
Svedberg D, Winiger RR, Berg A, ..., Vossbrinck CR, Barandun J
BMC Genomics 25 (1) 6 [2024-01-02; online 2024-01-02]
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A comprehensive dataset on spatiotemporal variation of microbial plankton communities in the Baltic Sea.
Latz MAC, Andersson A, Brugel S, ..., Torstensson A, Andersson AF
Sci Data 11 (1) 18 [2024-01-02; online 2024-01-02]
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Global Transcriptome Analysis Reveals Distinct Phases of the Endothelial Response to TNF.
Struck EC, Belova T, Hsieh PH, ..., Dusart PJ, Butler LM
J. Immunol. 212 (1) 117-129 [2024-01-01; online 2023-11-29]
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Whole-genome selective sweep analyses identifies the region and candidate gene associated with white earlobe color in Mediterranean chickens.
Guo Y, Rubin CJ, Rönneburg T, ..., Hu X, Carlborg Ö
Poult. Sci. 103 (1) 103232 [2024-01-00; online 2023-10-24]
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The genetic legacy of the expansion of Bantu-speaking peoples in Africa.
Fortes-Lima CA, Burgarella C, Hammarén R, ..., Bostoen K, Schlebusch CM
Nature 625 (7995) 540-547 [2024-01-00; online 2023-11-29]
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Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons.
Barde S, Aguila J, Zhong W, ..., Hedlund E, Hökfelt T
Eur Neuropsychopharmacol 78 (-) 54-63 [2024-01-00; online 2023-11-04]
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Population genomics of the muskox' resilience in the near absence of genetic variation.
Pečnerová P, Lord E, Garcia-Erill G, ..., Moltke I, Siegismund HR
Mol. Ecol. 33 (2) e17205 [2024-01-00; online 2023-11-16]
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Phylogenomics and topological conflicts in the tribe Anthospermeae (Rubiaceae).
Thureborn O, Wikström N, Razafimandimbison SG, Rydin C
Ecol Evol 14 (1) e10868 [2024-01-00; online 2024-01-25]
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Novel candidate taxa contribute to key metabolic processes in Fennoscandian Shield deep groundwaters.
Dopson M, Rezaei Somee M, González-Rosales C, ..., Mehrshad M, Bertilsson S
ISME COMMUN. 4 (1) ycae113 [2024-01-00; online 2024-09-23]
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New indicators for monitoring genetic diversity applied to alpine brown trout populations using whole genome sequence data.
Kurland S, Saha A, Keehnen N, ..., Ryman N, Laikre L
Mol. Ecol. 33 (2) e17213 [2024-01-00; online 2023-11-28]
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New chemical and microbial perspectives on vitamin B1 and vitamer dynamics of a coastal system.
Bittner MJ, Bannon CC, Rowland E, ..., Paerl RW, Riemann L
ISME COMMUN. 4 (1) ycad016 [2024-01-00; online 2024-01-10]
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Molecular profiling of high-level athlete skeletal muscle after acute endurance or resistance exercise – A systems biology approach
Reitzner SM, Emanuelsson EB, Arif M, ..., Chapman MA, Sundberg CJ
Mol Metab 79 (-) 101857 [2024-01-00; online 2024-01-00]
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Molecular blueprints for spinal circuit modules controlling locomotor speed in zebrafish.
Pallucchi I, Bertuzzi M, Madrid D, ..., Higashijima SI, El Manira A
Nat. Neurosci. 27 (1) 78-89 [2024-01-00; online 2023-11-02]
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DNA metabarcoding reveals spatial and temporal variation of fish eye fluke communities in lake ecosystems.
Diaz-Suarez A, Noreikiene K, Kahar S, ..., Kisand V, Vasemägi A
Int J Parasitol 54 (1) 33-46 [2024-01-00; online 2023-08-24]
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Population genomic data reveal low genetic diversity, divergence and local adaptation among threatened Reeves's Pheasant (Syrmaticus reevesii)
Lu Q, Wang P, Chang J, ..., Höglund J, Zhang Z
Avian Research 15 (-) 100156 [2024-00-00; online 2024-00-00]
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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Schuy J, Sæther KB, Lisfeld J, ..., Eisfeldt J, Lindstrand A
Genetics in Medicine Open 2 (-) 101863 [2024-00-00; online 2024-00-00]
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Year 2023

PubMed DOI Crossref
Impact of the gut microbiome on immunological responses to COVID-19 vaccination in healthy controls and people living with HIV.
Ray S, Narayanan A, Vesterbacka J, ..., Sönnerborg A, Nowak P
NPJ Biofilms Microbiomes 9 (1) 104 [2023-12-20; online 2023-12-20]
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Effects of environmental translocation and host characteristics on skin microbiomes of sun-basking fish.
Berggren H, Nordahl O, Yıldırım Y, ..., Tibblin P, Forsman A
Proc. Biol. Sci. 290 (2013) 20231608 [2023-12-20; online 2023-12-20]
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Dissecting the genetic landscape of GPCR signaling through phenotypic profiling in C. elegans.
Pu L, Wang J, Lu Q, ..., Henriksson J, Chen C
Nat Commun 14 (1) 8410 [2023-12-18; online 2023-12-18]
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Short- and long-term effects of radiation exposure at low dose and low dose rate in normal human VH10 fibroblasts.
Akuwudike P, López-Riego M, Marczyk M, ..., Wojcik A, Lundholm L
Front Public Health 11 (-) 1297942 [2023-12-15; online 2023-12-15]
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Effect of anode material and dispersal limitation on the performance and biofilm community in microbial electrolysis cells.
Abadikhah M, Liu M, Persson F, ..., Sun J, Modin O
Biofilm 6 (-) 100161 [2023-12-15; online 2023-10-10]
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Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.
David D, Fino J, Oliveira R, Dória S, Morton CC
Gene 887 (-) 147737 [2023-12-15; online 2023-08-23]
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A chromosome-level assembly of the seed beetle Callosobruchus maculatus genome with annotation of its repetitive elements.
Arnqvist G, Westerberg I, Galbraith J, ..., Ewels P, Suh A
G3 (Bethesda) - (-) - [2023-12-13; online 2023-12-13]
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The formation of the Indo-Pacific montane avifauna.
Reeve AH, Kennedy JD, Pujolar JM, ..., Nylander JAA, Jønsson KA
Nat Commun 14 (1) 8215 [2023-12-11; online 2023-12-11]
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Haplotype-resolved genome of heterozygous African cassava cultivar TMEB117 (Manihot esculenta).
Landi M, Shah T, Falquet L, ..., Bongcam-Rudloff E, Gisel A
Sci Data 10 (1) 887 [2023-12-09; online 2023-12-09]
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The functional and molecular impact of triamcinolone acetonide on primary human bone marrow mesenchymal stem cells.
Kumlin M, Ungerstedt J, Cai H, ..., Felländer-Tsai L, Qian H
Sci Rep 13 (1) 21787 [2023-12-08; online 2023-12-08]
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Spatial transcriptomics of B cell and T cell receptors reveals lymphocyte clonal dynamics.
Engblom C, Thrane K, Lin Q, ..., Lundeberg J, Frisén J
Science 382 (6675) eadf8486 [2023-12-08; online 2023-12-08]
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Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
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Shared and distinct pathways and networks genetically linked to coronary artery disease between human and mouse.
Kurt Z, Cheng J, Barrere-Cain R, ..., Blencowe M, Yang X
Elife 12 (-) - [2023-12-07; online 2023-12-07]
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Lokatt: a hybrid DNA nanopore basecaller with an explicit duration hidden Markov model and a residual LSTM network.
Xu X, Bhalla N, Ståhl P, Jaldén J
BMC Bioinformatics 24 (1) 461 [2023-12-07; online 2023-12-07]
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Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression.
Guintivano J, Byrne EM, Kiewa J, ..., Meltzer-Brody S, Sullivan P
Am J Psychiatry 180 (12) 884-895 [2023-12-01; online 2023-10-18]
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Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation.
Jensen A, Swift F, de Vries D, ..., Roos C, Guschanski K
Mol. Biol. Evol. 40 (12) - [2023-12-01; online 2023-11-21]
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Patterns of phylogenetic diversification in the Dollarbird (Eurystomus orientalis) and Azure Roller (Eurystomus azureus) complex.
Johansson US, Irestedt M, Ericson PGP
Mol. Phylogenet. Evol. 189 (-) 107909 [2023-12-00; online 2023-08-22]
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Genome-scale phylogeny and comparative genomics of the fungal order Sordariales.
Hensen N, Bonometti L, Westerberg I, ..., Hiltunen Thorén M, Johannesson H
Mol. Phylogenet. Evol. 189 (-) 107938 [2023-12-00; online 2023-10-10]
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An epigenome-wide analysis of sex hormone levels and DNA methylation in male blood samples.
Harbs J, Rinaldi S, Keski-Rahkonen P, ..., Van Guelpen B, Harlid S
Epigenetics 18 (1) 2196759 [2023-12-00; online 2023-03-31]
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An enriched maternal environment and stereotypies of sows differentially affect the neuro-epigenome of brain regions related to emotionality in their piglets.
Tatemoto P, Pértille F, Bernardino T, ..., Guerrero-Bosagna C, Zanella AJ
Epigenetics 18 (1) 2196656 [2023-12-00; online 2023-05-16]
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Sci Rep 13 (1) 21077 [2023-11-29; online 2023-11-29]
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Ovarian ERβ cistrome and transcriptome reveal chromatin interaction with LRH-1.
Birgersson M, Indukuri R, Lindquist L, ..., Archer A, Williams C
BMC Biol. 21 (1) 277 [2023-11-29; online 2023-11-29]
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Infants' looking preferences for social versus non-social objects reflect genetic variation.
Portugal AM, Viktorsson C, Taylor MJ, ..., Ronald A, Falck-Ytter T
Nat Hum Behav - (-) - [2023-11-27; online 2023-11-27]
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DNA elements tether canonical Polycomb Repressive Complex 1 to human genes.
Barrasa JI, Kahn TG, Lundkvist MJ, Schwartz YB
Nucleic Acids Res. 51 (21) 11613-11633 [2023-11-27; online 2023-10-19]
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RecView: an interactive R application for locating recombination positions using pedigree data.
Zhang H, Hansson B
BMC Genomics 24 (1) 712 [2023-11-25; online 2023-11-25]
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Dysregulations in hemostasis, metabolism, immune response, and angiogenesis in post-acute COVID-19 syndrome with and without postural orthostatic tachycardia syndrome: a multi-omic profiling study.
Mahdi A, Zhao A, Fredengren E, ..., Pernow J, Ståhlberg M
Sci Rep 13 (1) 20230 [2023-11-19; online 2023-11-19]
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Shotgun metagenomes from productive lakes in an urban region of Sweden.
Rodríguez-Gijón A, Hampel JJ, Dharamshi J, Bertilsson S, Garcia SL
Sci Data 10 (1) 810 [2023-11-17; online 2023-11-17]
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Demonstration of reduced efficacy against cyathostomins without change in species composition after pyrantel embonate treatment in Swedish equine establishments.
Hedberg Alm Y, Halvarsson P, Martin F, ..., Törngren V, Tydén E
International Journal for Parasitology: Drugs and Drug Resistance 23 (-) 78-86 [2023-11-14; online 2023-11-14]
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Estravis Barcala M, van der Valk T, Chen Z, ..., Nilsson O, Wu HX
Plant J. - (-) - [2023-11-10; online 2023-11-10]
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Vogt EC, Bratland E, Berland S, ..., Husebye E, Øksnes M
Hum. Reprod. - (-) - [2023-11-09; online 2023-11-09]
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Willink B, Tunström K, Nilén S, ..., Svensson EI, Wheat CW
Nat Ecol Evol - (-) - [2023-11-06; online 2023-11-06]
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BLR: a flexible pipeline for haplotype analysis of multiple linked-read technologies.
Höjer P, Frick T, Siga H, ..., Martin M, Ahmadian A
Nucleic Acids Res. - (-) - [2023-11-06; online 2023-11-06]
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LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.
Garza R, Atacho DAM, Adami A, ..., Douse CH, Jakobsson J
Sci Adv 9 (44) eadh9543 [2023-11-03; online 2023-11-01]
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Thuresson A, Brazina J, Akram T, ..., Soussi Zander C, Caldecott KW
Mol Genet Genomic Med - (-) e2295 [2023-11-02; online 2023-11-02]
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Zhang H, Lundberg M, Tarka M, Hasselquist D, Hansson B
Genome Biol Evol 15 (11) - [2023-11-01; online 2023-10-04]
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Klose D, Needhamsen M, Ringh MV, ..., Jagodic M, Kular L
Mult Scler Relat Disord 79 (-) 104991 [2023-11-00; online 2023-09-09]
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Lumpi T, Guo X, Lindström ES
Environ. Microbiol. 25 (11) 2289-2302 [2023-11-00; online 2023-06-28]
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Long-Term Pollution Does Not Inhibit Denitrification and DNRA by Adapted Benthic Microbial Communities.
Broman E, Abdelgadir M, Bonaglia S, ..., Nascimento FJA, Sjöling S
Microb. Ecol. 86 (4) 2357-2372 [2023-11-00; online 2023-05-24]
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Host Phylogeny Structures the Gut Bacterial Community Within Galerucella Leaf Beetles.
An Y, Braga MP, Garcia SL, Grudzinska-Sterno M, Hambäck PA
Microb. Ecol. 86 (4) 2477-2487 [2023-11-00; online 2023-06-14]
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Åkesson J, Hojjati S, Hellberg S, ..., Ernerudh J, Gustafsson M
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Aksoylu IS, Martin P, Robert F, ..., Larsson O, Ramesh V
Mol Autism 14 (1) 39 [2023-10-25; online 2023-10-25]
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Complete Mitochondrial DNA Genome Variation in the Swedish Population.
Sturk-Andreaggi K, Bodner M, Ring JD, ..., Marshall C, Allen M
Genes 14 (11) - [2023-10-25; online 2023-10-25]
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Polymorphic parasitic larvae cooperate to build swimming colonies luring hosts.
Krupenko D, Miroliubov A, Kryukov E, ..., Kastriti ME, Adameyko I
Curr. Biol. 33 (20) 4524-4531.e4 [2023-10-23; online 2023-09-22]
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Stenberg H, Malmberg M, Hayer J
BMC Vet Res 19 (1) 219 [2023-10-20; online 2023-10-20]
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Range-wide and temporal genomic analyses reveal the consequences of near-extinction in Swedish moose.
Dussex N, Kurland S, Olsen RA, ..., Dalén L, Laikre L
Commun Biol 6 (1) 1035 [2023-10-17; online 2023-10-17]
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Sun L, Höjer A, Johansson M, ..., Dicksved J, Lundh Å
Foods 12 (20) - [2023-10-16; online 2023-10-16]
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Single-Cell RNA Analysis Reveals Cell-Intrinsic Functions of CAR T Cells Correlating with Response in a Phase II Study of Lymphoma Patients.
Sarén T, Ramachandran M, Gammelgård G, ..., Enblad G, Essand M
Clin. Cancer Res. 29 (20) 4139-4152 [2023-10-13; online 2023-08-04]
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Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH.
Lysenkova Wiklander M, Övernäs E, Lagensjö J, ..., Liljedahl U, Nordlund J
BMC Res Notes 16 (1) 265 [2023-10-10; online 2023-10-10]
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Low mutation load in a supergene underpinning alternative male mating strategies in ruff (Calidris pugnax).
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Mol. Biol. Evol. 40 (12) msad224 [2023-10-06; online 2023-10-06]
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Introgression underlies phylogenetic uncertainty but not parallel plumage evolution in a recent songbird radiation.
Rancilhac L, Enbody ED, Harris R, ..., Andersson L, Alström P
Syst. Biol. - (-) - [2023-10-06; online 2023-10-06]
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Metabolomic and transcriptomic analyses identify external conditions and key genes underlying high levels of toxic glycoalkaloids in tubers of stress-sensitive potato cultivars.
Merino I, Guasca AO, Krmela A, ..., Schulzova V, Sitbon F
Front Plant Sci 14 (-) 1210850 [2023-10-04; online 2023-10-04]
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Copy number variations and their effect on the plasma proteome.
Schmitz D, Li Z, Lo Faro V, ..., Rafati N, Johansson Å
Genetics - (-) - [2023-10-04; online 2023-10-04]
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Spatial transcriptomic analysis of virtual prostate biopsy reveals confounding effect of tissue heterogeneity on genomic signatures.
Figiel S, Yin W, Doultsinos D, ..., Cussenot O, Lamb AD
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The long non-coding RNA LINC00707 interacts with Smad proteins to regulate TGFβ signaling and cancer cell invasion.
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The dynamics of touch-responsive gene expression in cereals.
Darwish E, Ghosh R, Bentzer J, ..., Sirijovski N, Van Aken O
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Similarity in milk microbiota in replicates.
Dahlberg J, Pelve E, Dicksved J
Microbiologyopen 12 (5) e1383 [2023-10-00; online 2023-10-25]
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Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia.
Fehr A, Arvidsson G, Nordlund J, ..., Stenman G, Andersson MK
Genes Chromosomes Cancer 62 (10) 597-606 [2023-10-00; online 2023-05-23]
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B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus.
Hedenstedt A, Reid S, Sayadi A, ..., Sandling JK, Leonard D
Lupus Sci Med 10 (2) - [2023-10-00; online 2023-10-17]
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Whole genome sequence of the deep-sea sponge Geodia barretti (Metazoa, Porifera, Demospongiae).
Steffen K, Proux-Wéra E, Soler L, ..., Sundh J, Cárdenas P
G3 (Bethesda) 13 (10) - [2023-09-30; online 2023-08-25]
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Community-wide genome sequencing reveals 30 years of Darwin's finch evolution.
Enbody ED, Sendell-Price AT, Sprehn CG, ..., Grant PR, Andersson L
Science 381 (6665) eadf6218 [2023-09-29; online 2023-09-29]
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The relative impact of parental and current environment on plant transcriptomes depends on type of stress and genotype.
Earley TS, Feiner N, Alvarez MF, Coolon JD, Sultan SE
Proc. Biol. Sci. 290 (2007) 20230824 [2023-09-27; online 2023-09-27]
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Single-cell transcriptomics delineates the immune cell landscape in equine lower airways and reveals upregulation of FKBP5 in horses with asthma.
Riihimäki M, Fegraeus K, Nordlund J, ..., Hellman L, Raine A
Sci Rep 13 (1) 16261 [2023-09-27; online 2023-09-27]
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The draft genome of the microscopic Nemertoderma westbladi sheds light on the evolution of Acoelomorpha genomes.
Abalde S, Tellgren-Roth C, Heintz J, Vinnere Pettersson O, Jondelius U
Front Genet 14 (-) 1244493 [2023-09-26; online 2023-09-26]
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Single-cell sequencing of tumor-associated macrophages in a Drosophila model.
Khalili D, Mohammed M, Kunc M, ..., Ankarklev J, Theopold U
Front Immunol 14 (-) 1243797 [2023-09-19; online 2023-09-19]
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Ecogenomics and cultivation reveal distinctive viral-bacterial communities in the surface microlayer of a Baltic Sea slick.
Rahlff J, Wietz M, Giebel HA, ..., Antson A, Holmfeldt K
ISME COMMUN. 3 (1) 97 [2023-09-18; online 2023-09-18]
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Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets.
Mihalič F, Benz C, Kassa E, ..., Jemth P, Ivarsson Y
Nat Commun 14 (1) 5636 [2023-09-13; online 2023-09-13]
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Ectomycorrhizal fungi integrate nitrogen mobilisation and mineral weathering in boreal forest soil.
Mahmood S, Fahad Z, Bolou-Bi EB, ..., Ekblad A, Finlay RD
New Phytol. - (-) - [2023-09-11; online 2023-09-11]
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A novel kleptoplastidic symbiosis revealed in the marine centrohelid Meringosphaera with evidence of genetic integration.
Sørensen MES, Zlatogursky VV, Onuţ-Brännström I, ..., Foster RA, Burki F
Curr. Biol. 33 (17) 3571-3584.e6 [2023-09-11; online 2023-08-02]
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Placental growth factor exerts a dual function for cardiomyogenesis and vasculogenesis during heart development.
Witman N, Zhou C, Häneke T, ..., Chien KR, Sahara M
Nat Commun 14 (1) 5435 [2023-09-05; online 2023-09-05]
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Seasonal and age-related changes in sperm quality of farmed arctic charr (Salvelinus alpinus).
Kurta K, Jeuthe H, Naboulsi R, de Koning DJ, Palaiokostas C
BMC Genomics 24 (1) 519 [2023-09-04; online 2023-09-04]
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The Genomic Basis of Adaptation to High Elevations in Africanized Honey Bees.
Everitt T, Wallberg A, Christmas MJ, ..., Neumann P, Webster MT
Genome Biol Evol 15 (9) - [2023-09-01; online 2023-08-26]
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Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.
Ekman D, Sennblad B, Knight A, ..., Lindblad-Toh K, Dahlqvist J
Rheumatology (Oxford) 62 (9) 3213-3218 [2023-09-01; online 2023-04-03]
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Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.
Dorvall M, Pedersen A, Dumanski JP, ..., Stanne TM, Jern C
Stroke 54 (9) 2434-2437 [2023-09-00; online 2023-07-19]
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Milder Autumns May Increase Risk for Infection of Crops with Turnip Yellows Virus.
Puthanveed V, Singh K, Poimenopoulou E, ..., Siddique AB, Kvarnheden A
Phytopathology 113 (9) 1788-1798 [2023-09-00; online 2023-11-01]
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Contrasting genomic consequences of anthropogenic reintroduction and natural recolonization in high-arctic wild reindeer.
Burnett HA, Bieker VC, Le Moullec M, ..., Hansen BB, Martin MD
Evol Appl 16 (9) 1531-1548 [2023-09-00; online 2023-08-22]
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Chromatin accessibility, not 5mC methylation covaries with partial dosage compensation in crows.
Catalán A, Merondun J, Knief U, Wolf JBW
PLoS Genet. 19 (9) e1010901 [2023-09-00; online 2023-09-25]
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Long-read whole-genome analysis of human single cells.
Hård J, Mold JE, Eisfeldt J, ..., Michaëlsson J, Ameur A
Nat Commun 14 (1) 5164 [2023-08-24; online 2023-08-24]
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Inhibition of high level E2F in a RB1 proficient MYCN overexpressing chicken retinoblastoma model normalizes neoplastic behaviour.
Zhang H, Konjusha D, Rafati N, Tararuk T, Hallböök F
Cell Oncol (Dordr) - (-) - [2023-08-22; online 2023-08-22]
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Contrasting response of microeukaryotic and bacterial communities to the interplay of seasonality and local stressors in shallow soda lakes.
Márton Z, Csitári B, Felföldi T, ..., Szabó A, Székely AJ
FEMS Microbiol. Ecol. 99 (9) - [2023-08-22; online 2023-08-17]
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Expanding the genetic toolbox of Rhodotorula toruloides by identification and validation of six novel promoters induced or repressed under nitrogen starvation.
Brink DP, Mierke F, Norbeck J, Siewers V, Andlid T
Microb. Cell Fact. 22 (1) 160 [2023-08-19; online 2023-08-19]
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Multiplexed Guide RNA Expression Leads to Increased Mutation Frequency in Targeted Window Using a CRISPR-Guided Error-Prone DNA Polymerase in Saccharomyces cerevisiae.
Gossing M, Limeta A, Skrekas C, ..., Siewers V, David F
ACS Synth Biol 12 (8) 2271-2277 [2023-08-18; online 2023-07-24]
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Decoding pancreatic endocrine cell differentiation and β cell regeneration in zebrafish.
Mi J, Liu KC, Andersson O
Sci Adv 9 (33) eadf5142 [2023-08-18; online 2023-08-18]
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Bacterial bioindicators enable biological status classification along the continental Danube river.
Fontaine L, Pin L, Savio D, ..., Farnleitner AH, Eiler A
Commun Biol 6 (1) 862 [2023-08-18; online 2023-08-18]
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An idiosyncratic zonated stroma encapsulates desmoplastic liver metastases and originates from injured liver.
Fernández Moro C, Geyer N, Harrizi S, ..., Bozóky B, Gerling M
Nat Commun 14 (1) 5024 [2023-08-18; online 2023-08-18]
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Environmental effects rather than relatedness determine gut microbiome similarity in a social mammal.
Bensch HM, Lundin D, Tolf C, Waldenström J, Zöttl M
J. Evol. Biol. - (-) - [2023-08-16; online 2023-08-16]
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Transcriptional maintenance of cortical somatostatin interneuron subtype identity during migration.
Munguba H, Nikouei K, Hochgerner H, ..., Linnarsson S, Hjerling-Leffler J
Neuron - (-) - [2023-08-15; online 2023-08-15]
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Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, ..., Rosenquist R, Barbany G
Front Oncol 13 (-) 1217712 [2023-08-14; online 2023-08-14]
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Molecular and spatial landmarks of early mouse skin development.
Jacob T, Annusver K, Czarnewski P, ..., Björklund ÅK, Kasper M
Dev. Cell - (-) - [2023-08-13; online 2023-08-13]
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Limited genetic changes observed during in situ and ex situ conservation in Nordic populations of red clover (Trifolium pratense).
Hagenblad J, Aloisi K, Marum P, ..., Asdal Å, Palmé A
Front Plant Sci 14 (-) 1233838 [2023-08-09; online 2023-08-09]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genetic continuity, isolation, and gene flow in Stone Age Central and Eastern Europe.
Mattila TM, Svensson EM, Juras A, ..., Malmström H, Jakobsson M
Commun Biol 6 (1) 793 [2023-08-09; online 2023-08-09]
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Graded expression of the chemokine receptor CX3CR1 marks differentiation states of human and murine T cells and enables cross-species interpretation.
Zwijnenburg AJ, Pokharel J, Varnaitė R, ..., Eidsmo L, Gerlach C
Immunity 56 (8) 1955-1974.e10 [2023-08-08; online 2023-07-24]
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DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes.
Xavier A, Maltby VE, Ewing E, ..., Lea RA, Lechner-Scott J
Int J Mol Sci 24 (16) - [2023-08-08; online 2023-08-08]
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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Johansson J, Lidéus S, Höijer I, ..., Bondeson ML, Wilbe M
Sci Rep 13 (1) 12856 [2023-08-08; online 2023-08-08]
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Megafaunal extinctions, not climate change, may explain Holocene genetic diversity declines in Numenius shorebirds.
Tan HZ, Jansen JJFJ, Allport GA, ..., Gwee CY, Rheindt FE
Elife 12 (-) - [2023-08-07; online 2023-08-07]
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Biogeography of Fungal Communities Associated with Pinus sylvestris L. and Picea abies (L.) H. Karst. along the Latitudinal Gradient in Europe.
Mishcherikova V, Lynikienė J, Marčiulynas A, ..., Marčiulynienė D, Menkis A
JoF 9 (8) - [2023-08-06; online 2023-08-06]
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Altered gut microbiota community structure and correlated immune system changes in dibutyl phthalate exposed mice.
Almamoun R, Pierozan P, Manoharan L, Karlsson O
Ecotoxicol Environ Saf 262 (-) 115321 [2023-08-05; online 2023-08-05]
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Y-Linked Copy Number Polymorphism of Target of Rapamycin Is Associated with Sexual Size Dimorphism in Seed Beetles.
Kaufmann P, Wiberg RAW, Papachristos K, ..., Tellgren-Roth C, Immonen E
Mol. Biol. Evol. 40 (8) - [2023-08-03; online 2023-07-22]
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Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, ..., Rönnblom L, Kämpe O
Eur. J. Endocrinol. 189 (2) 235-241 [2023-08-02; online 2023-08-09]
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Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P
Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]
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Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Eriksson A, Engvall M, Mathot L, ..., Ladenvall C, Baliakas P
Clin. Cancer Res. 29 (15) 2826-2834 [2023-08-01; online 2023-04-07]
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Patrilocality and hunter-gatherer-related ancestry of populations in East-Central Europe during the Middle Bronze Age.
Chyleński M, Makarowicz P, Juras A, ..., Jakobsson M, Malmström H
Nat Commun 14 (1) 4395 [2023-08-01; online 2023-08-01]
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Base Composition, Codon Usage, and Patterns of Gene Sequence Evolution in Butterflies.
Näsvall K, Boman J, Talla V, Backström N
Genome Biol Evol 15 (8) - [2023-08-01; online 2023-08-11]
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Solid-phase capture and profiling of open chromatin by spatial ATAC.
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Nat. Biotechnol. 41 (8) 1085-1088 [2023-08-00; online 2023-01-05]
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Nascent evolution of recombination rate differences as a consequence of chromosomal rearrangements.
Näsvall K, Boman J, Höök L, ..., Wiklund C, Backström N
PLoS Genet. 19 (8) e1010717 [2023-08-00; online 2023-08-07]
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Methylation of lysine 36 on histone H3 is required to control transposon activities in somatic cells.
Lindehell H, Schwartz YB, Larsson J
Life Sci. Alliance 6 (8) - [2023-08-00; online 2023-05-11]
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Historical RNA expression profiles from the extinct Tasmanian tiger.
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Genome Res. 33 (8) 1299-1316 [2023-08-00; online 2023-07-18]
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Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample.
Jonsson L, Martin J, Lichtenstein P, ..., Westberg L, Tammimies K
Mol Genet Genomic Med 11 (8) e2191 [2023-08-00; online 2023-05-08]
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Evaluation of genetic demultiplexing of single-cell sequencing data from model species.
Cardiello JF, Joven Araus A, Giatrellis S, ..., Simon A, Leigh ND
Life Sci. Alliance 6 (8) e202301979 [2023-08-00; online 2023-05-17]
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Clones on the run: The genomics of a recently expanded partially clonal species.
Pereyra RT, Rafajlović M, De Wit P, ..., Töpel M, Johannesson K
Mol. Ecol. 32 (15) 4209-4223 [2023-08-00; online 2023-05-18]
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Characterisation of a low methane emission rice cultivar suitable for cultivation in high latitude light and temperature conditions.
Hu J, Bettembourg M, Moreno S, ..., Sundström J, Jin Y
Environ Sci Pollut Res 30 (40) 92950-92962 [2023-08-00; online 2023-07-27]
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A genomic platform for surveillance and antigen discovery in Plasmodium spp. using long-read amplicon sequencing
Plaza DF, Zerebinski J, Broumou I, ..., Sundling C, Färnert A
Cell Reports Methods - (-) 100574 [2023-08-00; online 2023-08-00]
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Transposable element insertions in 1000 Swedish individuals.
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PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]
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scDual-Seq of Toxoplasma gondii-infected mouse BMDCs reveals heterogeneity and differential infection dynamics.
Hildebrandt F, Mohammed M, Dziedziech A, ..., Henriksson J, Ankarklev J
Front Immunol 14 (-) 1224591 [2023-07-27; online 2023-07-27]
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Cutaneous squamous cell carcinoma-derived extracellular vesicles exert an oncogenic role by activating cancer-associated fibroblasts.
Li C, Sun C, Lohcharoenkal W, ..., Sonkoly E, Pivarcsi A
Cell Death Discov 9 (1) 260 [2023-07-26; online 2023-07-26]
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Multiyear analysis uncovers coordinated seasonality in stocks and composition of the planktonic food web in the Baltic Sea proper.
Fridolfsson E, Bunse C, Lindehoff E, ..., Legrand C, Hylander S
Sci Rep 13 (1) 11865 [2023-07-22; online 2023-07-22]
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Vegetation, topography, and soil depth drive microbial community structure in two Swedish grasslands.
Guasconi D, Juhanson J, Clemmensen KE, ..., Roth N, Fransson P
FEMS Microbiol. Ecol. 99 (8) - [2023-07-21; online 2023-07-21]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Iron age genomic data from Althiburos - Tunisia renew the debate on the origins of African taurine cattle.
Ginja C, Guimarães S, da Fonseca RR, ..., Pires AE, Valenzuela-Lamas S
iScience 26 (7) 107196 [2023-07-21; online 2023-06-24]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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FAVIS: Fast and versatile protocol for non-destructive metabarcoding of bulk insect samples.
Iwaszkiewicz-Eggebrecht E, Łukasik P, Buczek M, ..., Ronquist F, Miraldo A
PLoS ONE 18 (7) e0286272 [2023-07-19; online 2023-07-19]
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Salicylic acid metabolism and signalling coordinate senescence initiation in aspen in nature.
Lihavainen J, Šimura J, Bag P, ..., Ljung K, Jansson S
Nat Commun 14 (1) 4288 [2023-07-18; online 2023-07-18]
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Next generation pan-cancer blood proteome profiling using proximity extension assay.
Álvez MB, Edfors F, von Feilitzen K, ..., Fagerberg L, Uhlén M
Nat Commun 14 (1) 4308 [2023-07-18; online 2023-07-18]
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Comparative transcriptome profiling provides insights into the growth promotion activity of Pseudomonas fluorescens strain SLU99 in tomato and potato plants.
Hanifah NASB, Ghadamgahi F, Ghosh S, ..., Vetukuri RR, Kalyandurg PB
Front Plant Sci 14 (-) 1141692 [2023-07-18; online 2023-07-18]
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Irradiation and lithium treatment alter the global DNA methylation pattern and gene expression underlying a shift from gliogenesis towards neurogenesis in human neural progenitors.
Neofytou C, Backlund A, Blomgren K, Hermanson O
Transl Psychiatry 13 (1) 258 [2023-07-13; online 2023-07-13]
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Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease.
Davidsson P, Eketjäll S, Eriksson N, ..., White H, Wallentin L
Cardiovasc. Res. 119 (7) 1596-1605 [2023-07-04; online 2023-03-05]
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Proteomic and transcriptomic screening demonstrates increased mast cell-derived CCL23 in systemic mastocytosis.
Söderlund S, Boey D, van Midden W, ..., Dahlin JS, Ungerstedt J
J. Allergy Clin. Immunol. 152 (1) 205-213 [2023-07-00; online 2023-02-21]
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Forest Fire Influence on Tomicus piniperda-Associated Fungal Communities and Phloem Nutrient Availability of Colonized Pinus sylvestris.
Kluting K, Strid Y, Six D, Rosling A
Microb. Ecol. 86 (1) 224-239 [2023-07-00; online 2022-07-13]
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Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins.
Llobet MO, Johansson Å, Gyllensten U, Allen M, Enroth S
Forensic Sci Int Genet 65 (-) 102871 [2023-07-00; online 2023-04-07]
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Esr1+ hypothalamic-habenula neurons shape aversive states.
Calvigioni D, Fuzik J, Le Merre P, ..., Carlén M, Meletis K
Nat. Neurosci. 26 (7) 1245-1255 [2023-07-00; online 2023-06-22]
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Environmental stress during larval development induces DNA methylation shifts in the migratory painted lady butterfly (Vanessa cardui).
Boman J, Zhu Y, Höök L, ..., Talavera G, Backström N
Mol. Ecol. 32 (13) 3513-3523 [2023-07-00; online 2023-04-23]
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Actionable cancer vulnerability due to translational arrest, p53 aggregation and ribosome biogenesis stress evoked by the disulfiram metabolite CuET.
Kanellis DC, Zisi A, Skrott Z, ..., Lindström MS, Bartek J
Cell Death Differ. 30 (7) 1666-1678 [2023-07-00; online 2023-05-04]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Screening autism-associated environmental factors in differentiating human neural progenitors with fractional factorial design-based transcriptomics.
Arora A, Becker M, Marques C, ..., Lanekoff I, Tammimies K
Sci Rep 13 (1) 10519 [2023-06-29; online 2023-06-29]
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Quantification of metabolic niche occupancy dynamics in a Baltic Sea bacterial community.
Massing JC, Fahimipour AK, Bunse C, Pinhassi J, Gross T
mSystems 8 (3) e0002823 [2023-06-29; online 2023-05-31]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic markers associated with bone composition in Rhode Island Red laying hens.
Sallam M, Wilson PW, Andersson B, ..., De Koning DJ, Johnsson M
Genet. Sel. Evol. 55 (1) 44 [2023-06-29; online 2023-06-29]
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A Highly Substituted Ring-Fused 2-Pyridone Compound Targeting PrfA and the Efflux Regulator BrtA in Listeria monocytogenes.
Tükenmez H, Singh P, Sarkar S, ..., Almqvist F, Johansson J
MBio 14 (3) e0044923 [2023-06-27; online 2023-04-25]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Thiobacillus as a key player for biofilm formation in oligotrophic groundwaters of the Fennoscandian Shield.
Lopez-Fernandez M, Westmeijer G, Turner S, ..., Bertilsson S, Dopson M
NPJ Biofilms Microbiomes 9 (1) 41 [2023-06-22; online 2023-06-22]
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Microbial Profiling of Amniotic Fluid, Umbilical Blood and Placenta of the Foaling Mare.
Hemberg E, Niazi A, Guo Y, ..., Morrell JM, Kútvölgyi G
Animals (Basel) 13 (12) - [2023-06-18; online 2023-06-18]
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Human skin-resident CD8+ T cells require RUNX2 and RUNX3 for induction of cytotoxicity and expression of the integrin CD49a.
Zitti B, Hoffer E, Zheng W, ..., Eidsmo L, Bryceson YT
Immunity 56 (6) 1285-1302.e7 [2023-06-13; online 2023-06-02]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.
Rohdin C, Wang C, Brander G, ..., Ljungvall I, Lindblad-Toh K
J. Vet. Intern. Med. 37 (4) 1507-1513 [2023-06-09; online 2023-06-09]
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Absence of changes in the milk microbiota during Escherichia coli endotoxin induced experimental bovine mastitis.
Dahlberg J, Johnzon CF, Sun L, ..., Östensson K, Dicksved J
Vet Res 54 (1) 46 [2023-06-08; online 2023-06-08]
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Ablation of ZC3H11A causes early embryonic lethality and dysregulation of metabolic processes.
Younis S, Jouneau A, Larsson M, ..., Brochard V, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 120 (23) e2216799120 [2023-06-06; online 2023-05-30]
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Phenotypic and transcriptomic acclimation of the green microalga Raphidocelis subcapitata to high environmental levels of the herbicide diflufenican.
Gómez-Martínez D, Bengtson J, Nilsson AK, ..., Kristiansson E, Corcoll N
Sci. Total Environ. 875 (-) 162604 [2023-06-01; online 2023-03-05]
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Chromosome-level genome assembly of Lilford's wall lizard, Podarcis lilfordi (Günther, 1874) from the Balearic Islands (Spain).
Gomez-Garrido J, Cruz F, Alioto TS, ..., Otalora Acevedo KE, Baldo L
DNA Res. 30 (3) - [2023-06-01; online 2023-05-04]
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An annotated chromosome-scale reference genome for Eastern black-eared wheatear (Oenanthe melanoleuca).
Peona V, Palacios-Gimenez OM, Lutgen D, ..., Suh A, Burri R
G3 (Bethesda) 13 (6) - [2023-06-01; online 2023-04-25]
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The genomic basis and environmental correlates of local adaptation in the Atlantic horse mackerel (Trachurus trachurus).
Fuentes-Pardo AP, Farrell ED, Pettersson ME, Sprehn CG, Andersson L
Evol Appl 16 (6) 1201-1219 [2023-06-00; online 2023-06-06]
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The evolutionary maintenance of ancient recombining sex chromosomes in the ostrich.
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PLoS Genet. 19 (6) e1010801 [2023-06-00; online 2023-06-30]
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Northwest African Neolithic initiated by migrants from Iberia and Levant.
Simões LG, Günther T, Martínez-Sánchez RM, ..., Valdiosera C, Jakobsson M
Nature 618 (7965) 550-556 [2023-06-00; online 2023-06-07]
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Multimodal chromatin profiling using nanobody-based single-cell CUT&Tag.
Bartosovic M, Castelo-Branco G
Nat. Biotechnol. 41 (6) 794-805 [2023-06-00; online 2022-12-19]
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Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.
Williamson A, Norris DM, Yin X, ..., Fazakerley DJ, Langenberg C
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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
Wadensten E, Wessman S, Abel F, ..., Gisselsson D, Genomic Medicine Sweden Childhood Cancer Working Group
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Contrasting plant-soil-microbial feedbacks stabilize vegetation types and uncouple topsoil C and N stocks across a subarctic-alpine landscape.
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New Phytol. 238 (6) 2621-2633 [2023-06-00; online 2022-12-29]
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Climate change-related warming reduces thermal sensitivity and modifies metabolic activity of coastal benthic bacterial communities.
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Multiple rearrangements and low inter- and intra-species mitogenome sequence variation in the Heterobasidion annosum s.l. species complex.
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Curr. Biol. 33 (9) 1753-1764.e4 [2023-05-08; online 2023-04-07]
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Mosquera KD, Nilsson LKJ, de Oliveira MR, ..., de Souza AQL, Terenius O
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Göransson S, Chen S, Olofsson H, Larsson O, Strömblad S
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Three-dimensional genome rewiring in loci with human accelerated regions.
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The functional and evolutionary impacts of human-specific deletions in conserved elements.
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Arapovic L, Huang Y, Manell E, ..., Lindberg JE, Dicksved J
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Red clover root-associated microbiota is shaped by geographic location and choice of farming system.
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Pappas F, Kurta K, Vanhala T, ..., Beirão J, Palaiokostas C
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Morez A, Britton K, Noble G, ..., Donald C, Girdland-Flink L
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Smeds L, Ellegren H
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Boström AED, Jamshidi E, Manu DM, ..., Åsberg M, Jokinen J
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Long-term warming modulates diversity, vertical structuring of microbial communities, and sulfate reduction in coastal Baltic Sea sediments.
Seidel L, Sachpazidou V, Ketzer M, ..., Forsman A, Dopson M
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Rodríguez-Gijón A, Buck M, Andersson AF, ..., Nascimento FJA, Garcia SL
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Subramanian E, Elewa A, Brito G, ..., Andersson O, Simon A
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Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.
Arthur C, Jylhä C, de Ståhl TD, ..., Sandvik U, Tham E
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Evidence for a single, ancient origin of a genus-wide alternative life history strategy.
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Conde E Silva N, Leguilloux M, Bellec A, ..., Berges H, Deveaux Y
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Rifkin RF, Vikram S, Alcorta J, ..., Schlebusch CM, Lombard M
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Occupational inhalable agents constitute major risk factors for rheumatoid arthritis, particularly in the context of genetic predisposition and smoking.
Tang B, Liu Q, Ilar A, ..., Alfredsson L, Jiang X
Ann. Rheum. Dis. 82 (3) 316-323 [2023-03-00; online 2022-12-06]
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PubMed DOI Crossref
Multiple introgressions shape mitochondrial evolutionary history in Drosophila paulistorum and the Drosophila willistoni group.
Baião GC, Schneider DI, Miller WJ, Klasson L
Mol. Phylogenet. Evol. 180 (-) 107683 [2023-03-00; online 2022-12-24]
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
Shrine N, Izquierdo AG, Chen J, ..., Hall IP, Tobin MD
Nat. Genet. 55 (3) 410-422 [2023-03-00; online 2023-03-13]
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DOI Crossref
Ectomycorrhizal fungi with hydrophobic mycelia and rhizomorphs dominate in young pine trees surviving experimental drought stress
Castaño C, Suarez-Vidal E, Zas R, ..., Oliva J, Sampedro L
Soil Biology and Biochemistry 178 (-) 108932 [2023-03-00; online 2023-03-00]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-Cell Transcriptomics To Define Plasmodium falciparum Stage Transition in the Mosquito Midgut.
Mohammed M, Dziedziech A, Sekar V, ..., Vega-Rodriguez J, Ankarklev J
Microbiol Spectr 11 (2) e0367122 [2023-02-27; online 2023-02-27]
Bioinformatics Support for Computational Resources [Service] Microbial Single Cell Genomics [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Reconstructing clonal tree for phylo-phenotypic characterization of cancer using single-cell transcriptomics.
Jun S, Toosi H, Mold J, ..., Roth A, Lagergren J
Nat Commun 14 (1) 982 [2023-02-22; online 2023-02-22]
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PubMed DOI Crossref
Accelerated epigenetic aging in women with emotionally unstable personality disorder and a history of suicide attempts.
Boström ADE, Andersson P, Jamshidi E, ..., Åsberg M, Jokinen J
Transl Psychiatry 13 (1) 66 [2023-02-22; online 2023-02-22]
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PubMed DOI Crossref
Targeting the gut-lung axis by synbiotic feeding to infants in a randomized controlled trial.
Sjödin KS, Sjödin A, Ruszczyński M, ..., Szajewska H, West CE
BMC Biol. 21 (1) 38 [2023-02-20; online 2023-02-20]
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PubMed DOI Crossref
Endosperm cellularization failure induces a dehydration-stress response leading to embryo arrest.
Xu W, Sato H, Bente H, Santos-González J, Köhler C
Plant Cell 35 (2) 874-888 [2023-02-20; online 2022-11-26]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Associations of DNA Methylation With Behavioral Problems, Gray Matter Volumes, and Negative Life Events Across Adolescence: Evidence From the Longitudinal IMAGEN Study.
Sun Y, Jia T, Barker ED, ..., Schumann G, Desrivières S
Biol. Psychiatry 93 (4) 342-351 [2023-02-15; online 2022-06-22]
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PubMed DOI Crossref
Genomic architecture of migration timing in a long-distance migratory songbird.
de Greef E, Suh A, Thorstensen MJ, Delmore KE, Fraser KC
Sci Rep 13 (1) 2437 [2023-02-10; online 2023-02-10]
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Bacteroidetes to Firmicutes: captivity changes the gut microbiota composition and diversity in a social subterranean rodent.
Bensch HM, Tolf C, Waldenström J, Lundin D, Zöttl M
Anim Microbiome 5 (1) 9 [2023-02-10; online 2023-02-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Larval transcriptomes reflect the evolutionary history of plant-insect associations.
de la Paz Celorio-Mancera M, Steward RA, Pruisscher P, ..., Wheat CW, Nylin S
Evolution 77 (2) 519-533 [2023-02-04; online 2023-01-11]
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Population genomics of the island thrush elucidates one of earth's great archipelagic radiations.
Reeve AH, Gower G, Pujolar JM, ..., Racimo F, Jønsson KA
Evolution Letters 7 (1) 24-36 [2023-02-01; online 2023-01-31]
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PubMed DOI Crossref
Ten years of marine evolutionary biology-Challenges and achievements of a multidisciplinary research initiative.
Johannesson K, Leder EH, André C, ..., Thorndyke M, Blomberg A
Evol Appl 16 (2) 530-541 [2023-02-00; online 2023-01-07]
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PubMed DOI Crossref
Migratory behaviour is positively associated with genetic diversity in butterflies.
García-Berro A, Talla V, Vila R, ..., Backström N, Talavera G
Mol. Ecol. 32 (3) 560-574 [2023-02-00; online 2022-11-23]
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DOI Crossref
Carbon substrate selects for different lineages of N2O reducing communities in soils under anoxic conditions
Maheshwari A, Jones CM, Tiemann M, Hallin S
Soil Biology and Biochemistry 177 (-) 108909 [2023-02-00; online 2023-02-00]
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PubMed DOI Crossref
An allozyme polymorphism is associated with a large chromosomal inversion in the marine snail Littorina fabalis.
Le Moan A, Panova M, De Jode A, ..., Butlin R, Johannesson K
Evol Appl 16 (2) 279-292 [2023-02-00; online 2022-06-26]
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PubMed DOI Crossref
A topographic atlas defines developmental origins of cell heterogeneity in the human embryonic lung.
Sountoulidis A, Marco Salas S, Braun E, ..., Nilsson M, Samakovlis C
Nat Cell Biol 25 (2) 351-365 [2023-02-00; online 2023-01-16]
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PubMed DOI Crossref
Inversions maintain differences between migratory phenotypes of a songbird.
Lundberg M, Mackintosh A, Petri A, Bensch S
Nat Commun 14 (1) 452 [2023-01-27; online 2023-01-27]
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PubMed DOI Crossref
High-density linkage maps and chromosome level genome assemblies unveil direction and frequency of extensive structural rearrangements in wood white butterflies (Leptidea spp.).
Höök L, Näsvall K, Vila R, Wiklund C, Backström N
Chromosome Res. 31 (1) 2 [2023-01-20; online 2023-01-20]
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PubMed DOI Crossref
Highly differentiated loci resolve phylogenetic relationships in the Bean Goose complex.
Ottenburghs J, Honka J, Heikkinen ME, ..., Müskens GJDM, Ellegren H
BMC Ecol Evol 23 (1) 2 [2023-01-19; online 2023-01-19]
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PubMed DOI Crossref
Microbial communities mediating net methylmercury formation along a trophic gradient in a peatland chronosequence.
Wang B, Hu H, Bishop K, ..., Bertilsson S, Bravo AG
J Hazard Mater 442 (-) 130057 [2023-01-15; online 2022-09-23]
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PubMed DOI Crossref
PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia.
Arendt ML, Sakthikumar S, Melin M, ..., Rönnberg H, Lindblad-Toh K
Sci Rep 13 (1) 632 [2023-01-12; online 2023-01-12]
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PubMed DOI Crossref
Single-cell transcriptomics reveals correct developmental dynamics and high-quality midbrain cell types by improved hESC differentiation.
Nishimura K, Yang S, Lee KW, ..., Linnarsson S, Arenas E
Stem Cell Reports 18 (1) 337-353 [2023-01-10; online 2022-11-17]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal single-cell analysis of SARS-CoV-2-reactive B cells uncovers persistence of early-formed, antigen-specific clones.
Scharf L, Axelsson H, Emmanouilidi A, ..., Bemark M, Angeletti D
JCI Insight 8 (1) - [2023-01-10; online 2023-01-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Spatial and temporal heterogeneity in human mobility patterns in Holocene Southwest Asia and the East Mediterranean.
Koptekin D, Yüncü E, Rodríguez-Varela R, ..., Götherström A, Somel M
Curr. Biol. 33 (1) 41-57.e15 [2023-01-09; online 2022-12-08]
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PubMed DOI Crossref
The genetic history of Scandinavia from the Roman Iron Age to the present.
Rodríguez-Varela R, Moore KHS, Ebenesersdóttir SS, ..., Helgason A, Götherström A
Cell 186 (1) 32-46.e19 [2023-01-05; online 2023-01-08]
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PubMed DOI Crossref
Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas.
Weishaupt H, Čančer M, Rosén G, ..., Ameur A, Swartling FJ
Neuro-oncology 25 (1) 97-107 [2023-01-05; online 2022-06-24]
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PubMed DOI Crossref
Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression.
Sokolov AV, Manu DM, Nordberg DOT, ..., Jokinen J, Schiöth HB
Clin Epigenetics 15 (1) 1 [2023-01-04; online 2023-01-04]
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PubMed DOI Crossref
Experimental Life History Evolution Results in Sex-specific Evolution of Gene Expression in Seed Beetles.
Immonen E, Sayadi A, Stojković B, ..., Wiberg RAW, Arnqvist G
Genome Biol Evol 15 (1) - [2023-01-04; online 2022-12-22]
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A Phylogenomic Assessment of Processes Underpinning Convergent Evolution in Open-Habitat Chats.
Alaei Kakhki N, Schweizer M, Lutgen D, ..., Schielzeth H, Burri R
Mol. Biol. Evol. 40 (1) - [2023-01-04; online 2022-12-30]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The path to immortalization of cells starts by managing stress through gene duplications.
Lewerentz J, Johansson AM, Stenberg P
Exp. Cell Res. 422 (1) 113431 [2023-01-01; online 2022-11-21]
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PubMed DOI Crossref
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Wen J, Trost B, Engchuan W, ..., Yuen RKC, Szatkiewicz JP
Mol. Psychiatry 28 (1) 475-482 [2023-01-00; online 2022-11-16]
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PubMed DOI Crossref
Graphene oxide elicits microbiome-dependent type 2 immune responses via the aryl hydrocarbon receptor.
Peng G, Sinkko HM, Alenius H, ..., Bräutigam L, Fadeel B
Nat Nanotechnol 18 (1) 42-48 [2023-01-00; online 2022-12-12]
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Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs.
Lingaas F, Tengvall K, Jansen JH, ..., Lindblad-Toh K, Wang C
PLoS Genet. 19 (1) e1010599 [2023-01-00; online 2023-01-24]
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Year 2022

PubMed DOI Crossref
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Kanoni S, Graham SE, Wang Y, ..., Assimes TL, Peloso GM
Genome Biol. 23 (1) 268 [2022-12-27; online 2022-12-27]
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PubMed DOI Crossref
Leukocyte DNA methylation in Alzheimer´s disease associated genes: replication of findings from neuronal cells.
Karlsson IK, Ploner A, Wang Y, ..., Pedersen NL, Hägg S
Epigenetics - (-) 1-5 [2022-12-26; online 2022-12-26]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Investigation of the Virome and Characterization of Issyk-Kul Virus from Swedish Myotis brandtii Bats.
Cholleti H, de Jong J, Blomström AL, Berg M
Pathogens 12 (1) - [2022-12-21; online 2022-12-21]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene Networks and Pathways Involved in LPS-Induced Proliferative Response of Bovine Endometrial Epithelial Cells.
Najafi M, Guo Y, Andersson G, Humblot P, Bongcam-Rudloff E
Genes 13 (12) - [2022-12-12; online 2022-12-12]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Blue Turns to Gray: Paleogenomic Insights into the Evolutionary History and Extinction of the Blue Antelope (Hippotragus leucophaeus).
Hempel E, Bibi F, Faith JT, ..., Hofreiter M, Westbury MV
Mol. Biol. Evol. 39 (12) - [2022-12-05; online 2022-11-03]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics of tibia bone properties of crossbred commercial laying hens in different housing systems.
Johnsson M, Wall H, Lopes Pinto FA, ..., Kindmark A, de Koning DJ
G3 (Bethesda) - (-) - [2022-12-01; online 2022-12-01]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Functional responses of key marine bacteria to environmental change - toward genetic counselling for coastal waters.
Pinhassi J, Farnelid H, García SM, ..., Labrenz M, Riemann L
Front Microbiol 13 (-) 869093 [2022-12-01; online 2022-12-01]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Species composition of shoreline wolf spider communities vary with salinity, but their diets vary with wrack inflow.
Hambäck PA, Cirtwill AR, Grudzinska-Sterno M, ..., Langbak M, Åhlén D
Ecol Evol 12 (12) e9701 [2022-12-00; online 2022-12-28]
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PubMed DOI Crossref
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.
Sjøgren T, Bratland E, Røyrvik EC, ..., Husebye ES, Wolff ASB
J. Autoimmun. 133 (-) 102917 [2022-12-00; online 2022-09-30]
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DOI Crossref
Resistance of subarctic soil fungal and invertebrate communities to disruption of below‐ground carbon supply
Parker TC, Chomel M, Clemmensen KE, ..., Subke J, Wookey PA
J Ecol 110 (12) 2883-2897 [2022-12-00; online 2022-10-17]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association and Mendelian randomization study of fibroblast growth factor 21 reveals causal associations with hyperlipidemia and possibly NASH.
Larsson SC, Michaëlsson K, Mola-Caminal M, Höijer J, Mantzoros CS
Metabolism 137 (-) 155329 [2022-12-00; online 2022-10-05]
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Cone-setting in spruce is regulated by conserved elements of the age-dependent flowering pathway.
Akhter S, Westrin KJ, Zivi N, ..., Emanuelsson O, Sundström JF
New Phytol. 236 (5) 1951-1963 [2022-12-00; online 2022-09-16]
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An overlooked subset of Cx3cr1wt/wt microglia in the Cx3cr1CreER-Eyfp/wt mouse has a repopulation advantage over Cx3cr1CreER-Eyfp/wt microglia following microglial depletion
Zhou K, Han J, Lund H, ..., Harris RA, Blomgren K
J Neuroinflammation 19 (1) 20 [2022-12-00; online 2022-01-21]
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PubMed DOI Crossref
Dynamic patterns of blood lipids and DNA methylation in response to statin therapy.
Qin X, Wang Y, Pedersen NL, Tang B, Hägg S
Clin Epigenetics 14 (1) 153 [2022-11-28; online 2022-11-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.
Brink M, Ljung L, Hansson M, ..., Klareskog L, Rantapää-Dahlqvist S
Rheumatology (Oxford) 61 (12) 4985-4990 [2022-11-28; online 2022-05-10]
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PubMed DOI Crossref
Divergent gene expression responses in two Baltic Sea heterotrophic model bacteria to dinoflagellate dissolved organic matter.
Osbeck CMG, Lundin D, Karlsson C, ..., Moran MA, Pinhassi J
PLoS ONE 17 (11) e0243406 [2022-11-17; online 2022-11-17]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stage-specific transposon activity in the life cycle of the fairy-ring mushroom <i>Marasmius oreades</i>.
Hiltunen M, Ament-Velásquez SL, Ryberg M, Johannesson H
Proc. Natl. Acad. Sci. U.S.A. 119 (46) e2208575119 [2022-11-16; online 2022-11-07]
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PubMed DOI Crossref
Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals.
Strom NI, Smit DJA, Silzer T, ..., Mataix-Cols D, Cath D
Transl Psychiatry 12 (1) 479 [2022-11-15; online 2022-11-15]
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PubMed DOI Crossref
Genomic Consequences of Fragmentation in the Endangered Fennoscandian Arctic Fox (Vulpes lagopus).
Cockerill CA, Hasselgren M, Dussex N, ..., Sokolova N, Norén K
Genes 13 (11) - [2022-11-15; online 2022-11-15]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Early changes in gene expression profiles in AML patients during induction chemotherapy.
Jakobsen I, Sundkvist M, Björn N, Gréen H, Lotfi K
BMC Genomics 23 (1) 752 [2022-11-14; online 2022-11-14]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, ..., Gharavi AG, Kiryluk K
Nat Commun 13 (1) 6859 [2022-11-11; online 2022-11-11]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic trajectories of a near-extinction event in the Chatham Island black robin.
von Seth J, van der Valk T, Lord E, ..., Robertson BC, Dussex N
BMC Genomics 23 (1) 747 [2022-11-10; online 2022-11-10]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fungal Communities in Leaves and Roots of Healthy-Looking and Diseased Ulmusglabra.
Marčiulynas A, Marčiulynienė D, Lynikienė J, Bakys R, Menkis A
Microorganisms 10 (11) - [2022-11-10; online 2022-11-10]
NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome Evolution of a Symbiont Population for Pathogen Defense in Honeybees.
Dyrhage K, Garcia-Montaner A, Tamarit D, ..., Webster MT, Andersson SGE
Genome Biol Evol 14 (11) - [2022-11-04; online 2022-10-21]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic snapshot of demographic and cultural dynamism in Upper Mesopotamia during the Neolithic Transition.
Altınışık NE, Kazancı DD, Aydoğan A, ..., Erim Özdoğan A, Somel M
Sci Adv 8 (44) eabo3609 [2022-11-04; online 2022-11-04]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Dynamics of Adaptation to Stress from Standing Genetic Variation and de novo Mutations.
Ament-Velásquez SL, Gilchrist C, Rêgo A, ..., Rafati N, Stelkens R
Mol. Biol. Evol. 39 (11) - [2022-11-03; online 2022-11-06]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population dynamics and demographic history of Eurasian collared lemmings.
Lord E, Marangoni A, Baca M, ..., Fedorov VB, Dalén L
BMC Ecol Evol 22 (1) 126 [2022-11-03; online 2022-11-03]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mountain- and brown hare genetic polymorphisms to survey local adaptations and conservation status of the heath hare (Lepus timidus sylvaticus, Nilsson 1831).
Michell CT, Pohjoismäki JLO, Spong G, Thulin CG
Sci Data 9 (1) 667 [2022-11-03; online 2022-11-03]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome analyses based on single, field collected spores of the arbuscular mycorrhizal fungus Funneliformis geosporum.
Sahraei SE, Sánchez-García M, Montoliu-Nerin M, ..., Rosendahl S, Rosling A
Mycorrhiza 32 (5-6) 361-371 [2022-11-00; online 2022-09-26]
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Arthritis & rheumatology (Hoboken, N.J.) 74 (11) 1842-1850 [2022-11-00; online 2022-10-07]
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Shipilina D, Näsvall K, Höök L, ..., Talavera G, Backström N
Genomics 114 (6) 110481 [2022-11-00; online 2022-09-14]
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Forests 13 (11) 1780 [2022-10-27; online 2022-10-27]
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Schuster J, Klar J, Khalfallah A, ..., Birnir B, Dahl N
Front Mol Neurosci 15 (-) 988993 [2022-10-24; online 2022-10-24]
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Single-cell sequencing deconvolutes cellular responses to exercise in human skeletal muscle.
Lovrić A, Rassolie A, Alam S, ..., Gustafsson T, Rullman E
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Glucocorticoids and glucolipotoxicity alter the DNA methylome and function of human EndoC-βH1 cells.
Dos Santos C, Karagiannopoulos A, Rafacho A, ..., Ling C, Bacos K
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BMC Genomics 23 (1) 704 [2022-10-15; online 2022-10-15]
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Castro D, Concha C, Jamett F, Ibáñez C, Hurry V
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Spatiotemporal variations in retrovirus-host interactions among Darwin's finches.
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Sci Rep 12 (1) 17149 [2022-10-13; online 2022-10-13]
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Fisheries Management Eco 29 (5) 586-596 [2022-10-00; online 2022-03-28]
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Global patterns and rates of habitat transitions across the eukaryotic tree of life.
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Nat Ecol Evol 6 (10) 1458-1470 [2022-10-00; online 2022-08-04]
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Pharmacogenomics 23 (15) 813-820 [2022-10-00; online 2022-09-07]
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A saturated map of common genetic variants associated with human height.
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Loss of SNAI1 induces cellular plasticity in invasive triple-negative breast cancer cells.
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Cell Death Dis 13 (9) 832 [2022-09-28; online 2022-09-28]
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Parasitic strongyle nemabiome communities in wild ruminants in Sweden.
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Parasit Vectors 15 (1) 341 [2022-09-27; online 2022-09-27]
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Plant Cell 34 (10) 3860-3872 [2022-09-27; online 2022-07-07]
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A chromosome-scale reference genome for Spironucleus salmonicida.
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Sci Data 9 (1) 585 [2022-09-24; online 2022-09-24]
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Expression Levels of hgcAB Genes and Mercury Availability Jointly Explain Methylmercury Formation in Stratified Brackish Waters.
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Spatio-temporal analysis of prostate tumors in situ suggests pre-existence of treatment-resistant clones.
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Nat Commun 13 (1) 5475 [2022-09-17; online 2022-09-17]
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BMC Vet Res 18 (1) 348 [2022-09-16; online 2022-09-16]
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Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma.
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Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.
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Immunity 55 (9) 1732-1746.e5 [2022-09-13; online 2022-07-19]
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Colitis Induces Sex-Specific Intestinal Transcriptomic Responses in Mice.
Hases L, Birgersson M, Indukuri R, Archer A, Williams C
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Schwann cell precursors represent a neural crest-like state with biased multipotency.
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Genomic evidence that a sexually selected trait captures genome-wide variation and facilitates the purging of genetic load.
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PRC2-mediated repression is essential to maintain identity and function of differentiated dopaminergic and serotonergic neurons.
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Sci Adv 8 (34) eabo1543 [2022-08-26; online 2022-08-26]
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Genomic and gene expression associations to morphology of a sexual ornament in the chicken.
Bakovic V, Höglund A, Martin Cerezo ML, Henriksen R, Wright D
G3 (Bethesda) 12 (9) jkac174 [2022-08-25; online 2022-07-09]
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Seasonal dynamics in picocyanobacterial abundance and clade composition at coastal and offshore stations in the Baltic Sea.
Zufia JA, Legrand C, Farnelid H
Sci Rep 12 (1) 14330 [2022-08-22; online 2022-08-22]
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Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
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Int J Mol Sci 23 (16) - [2022-08-20; online 2022-08-20]
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Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome.
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iScience 25 (8) 104826 [2022-08-19; online 2022-08-01]
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Characterization of hemocytes and hematopoietic cells of a freshwater crayfish based on single-cell transcriptome analysis.
Söderhäll I, Fasterius E, Ekblom C, Söderhäll K
iScience 25 (8) 104850 [2022-08-19; online 2022-08-02]
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Ecosystem size-induced environmental fluctuations affect the temporal dynamics of community assembly mechanisms.
Bier RL, Vass M, Székely AJ, Langenheder S
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Terrigenous dissolved organic matter persists in the energy-limited deep groundwaters of the Fennoscandian Shield.
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Nat Commun 13 (1) 4837 [2022-08-17; online 2022-08-17]
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Multi-omics personalized network analyses highlight progressive disruption of central metabolism associated with COVID-19 severity.
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Cell Syst 13 (8) 665-681.e4 [2022-08-17; online 2022-07-08]
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Isolated Grauer's gorilla populations differ in diet and gut microbiome.
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Microbial functional genes are driven by gradients in sediment stoichiometry, oxygen, and salinity across the Baltic benthic ecosystem.
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Microbiome 10 (1) 126 [2022-08-15; online 2022-08-15]
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Dynamical Systems Model of RNA Velocity Improves Inference of Single-cell Trajectory, Pseudo-time and Gene Regulation.
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Estimation of the impact of three different bioinformatic pipelines on sheep nemabiome analysis.
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Parasit Vectors 15 (1) 290 [2022-08-11; online 2022-08-11]
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Single-cell multi-omics of human preimplantation embryos shows susceptibility to glucocorticoids.
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Genome Res. 32 (9) 1627-1641 [2022-08-10; online 2022-08-10]
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Nuclear-specific gene expression in heterokaryons of the filamentous ascomycete Neurospora tetrasperma.
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Proc. Biol. Sci. 289 (1980) 20220971 [2022-08-10; online 2022-08-10]
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Metatranscriptomics of Nasopharyngeal Microbiota and Host Distinguish between Pneumonia and Health.
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Am. J. Respir. Crit. Care Med. - (-) - [2022-08-10; online 2022-08-10]
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Dahn HA, Mountcastle J, Balacco J, ..., Jarvis ED, Fedrigo O
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Ageing desexualizes the Drosophila brain transcriptome.
Malacrinò A, Brengdahl MI, Kimber CM, ..., Mirabello C, Friberg U
Proc. Biol. Sci. 289 (1980) 20221115 [2022-08-10; online 2022-08-10]
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Detecting DNA Methylations in the Hyperthermoacidophilic Crenarchaeon Sulfolobus acidocaldarius Using SMRT Sequencing.
Tellgren-Roth C, Couturier M
Methods Mol. Biol. 2516 (-) 39-50 [2022-08-04; online 2022-08-04]
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Dahlqvist J, Ekman D, Sennblad B, ..., Eriksson P, Lindblad-Toh K
Rheumatology (Oxford) 61 (8) 3461-3470 [2022-08-03; online 2021-12-11]
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A Genome for Edith's Checkerspot Butterfly: An Insect with Complex Host-Adaptive Suites and Rapid Evolutionary Responses to Environmental Changes.
Tunstrom K, Wheat CW, Parmesan C, Singer MC, Mikheyev AS
Genome Biol Evol 14 (8) - [2022-08-03; online 2022-07-26]
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Modin O, Fuad N, Abadikhah M, ..., Persson F, Wilén BM
Water Res X 16 (-) 100146 [2022-08-01; online 2022-06-16]
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The genomic architecture of the passerine MHC region: High repeat content and contrasting evolutionary histories of single copy and tandemly duplicated MHC genes.
Westerdahl H, Mellinger S, Sigeman H, ..., Wolf JBW, Strandh M
Mol Ecol Resour 22 (6) 2379-2395 [2022-08-00; online 2022-04-11]
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Spatially resolved clonal copy number alterations in benign and malignant tissue.
Erickson A, He M, Berglund E, ..., Lamb AD, Lundeberg J
Nature 608 (7922) 360-367 [2022-08-00; online 2022-08-10]
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Short- and long-read metabarcoding of the eukaryotic rRNA operon: Evaluation of primers and comparison to shotgun metagenomics sequencing.
Latz MAC, Grujcic V, Brugel S, ..., Andersson A, Andersson AF
Mol Ecol Resour 22 (6) 2304-2318 [2022-08-00; online 2022-05-06]
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Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.
Muurinen M, Taylan F, Tournis S, ..., Mäkitie O, Costantini A
JBMR Plus 6 (8) e10660 [2022-08-00; online 2022-07-05]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Human adaptation to arsenic in Bolivians living in the Andes.
De Loma J, Vicente M, Tirado N, ..., Schlebusch CM, Broberg K
Chemosphere 301 (-) 134764 [2022-08-00; online 2022-04-28]
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Host genotype interacts with aerial spore communities and influences the needle mycobiome of Norway spruce.
Redondo MA, Oliva J, Elfstrand M, ..., Karlsson B, Berlin A
Environ. Microbiol. 24 (8) 3640-3654 [2022-08-00; online 2022-03-22]
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Ericaceous dwarf shrubs contribute a significant but drought‐sensitive fraction of soil respiration in a boreal pine forest
Mielke LA, Ekblad A, Finlay RD, ..., Lindahl BD, Clemmensen KE
J Ecol 110 (8) 1928-1941 [2022-08-00; online 2022-06-15]
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Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.
Lundtoft C, Pucholt P, Martin M, ..., Svenungsson E, Rönnblom L
Arthritis & rheumatology (Hoboken, N.J.) 74 (8) 1440-1450 [2022-08-00; online 2022-06-27]
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A polygenic architecture with habitat-dependent effects underlies ecological differentiation in Silene.
Gramlich S, Liu X, Favre A, Buerkle CA, Karrenberg S
New Phytol. 235 (4) 1641-1652 [2022-08-00; online 2022-06-23]
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Ramdas S, Judd J, Graham SE, ..., Zhu X, Brown CD
The American Journal of Human Genetics 109 (8) 1366-1387 [2022-08-00; online 2022-08-00]
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Cholleti H, de Jong J, Blomström AL, Berg M
Viruses 14 (8) - [2022-07-28; online 2022-07-28]
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Restricted X chromosome introgression and support for Haldane's rule in hybridizing damselflies.
Swaegers J, Sánchez-Guillén RA, Chauhan P, Wellenreuther M, Hansson B
Proc. Biol. Sci. 289 (1979) 20220968 [2022-07-27; online 2022-07-20]
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Inputs of Terrestrial Dissolved Organic Matter Enhance Bacterial Production and Methylmercury Formation in Oxic Coastal Water.
Rodríguez J, Andersson A, Björn E, ..., Skrobonja A, Rowe O
Front Microbiol 13 (-) 809166 [2022-07-27; online 2022-07-27]
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Khatri B, Tessneer KL, Rasmussen A, ..., Nordmark G, Lessard CJ
Nat Commun 13 (1) 4287 [2022-07-27; online 2022-07-27]
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Targeted Chromosome Conformation Capture (HiCap).
Zhigulev A, Sahlén P
Methods Mol. Biol. 2532 (-) 75-94 [2022-07-23; online 2022-07-23]
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Proliferation and Immune Response Gene Signatures Associated with Clinical Outcome to Immunotherapy and Targeted Therapy in Metastatic Cutaneous Malignant Melanoma.
Costa Svedman F, Das I, Tuominen R, ..., Höiom V, Egyhazi Brage S
Cancers (Basel) 14 (15) - [2022-07-22; online 2022-07-22]
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Claudin5 protects the peripheral endothelial barrier in an organ and vessel-type-specific manner.
Richards M, Nwadozi E, Pal S, ..., Nordling S, Claesson-Welsh L
Elife 11 (-) - [2022-07-21; online 2022-07-21]
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Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening.
Schaal W, Ameur A, Olsson-Strömberg U, ..., Cavelier L, Spjuth O
Cancer Inform 21 (-) 11769351221110872 [2022-07-15; online 2022-07-15]
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Lipoxins reduce obesity-induced adipose tissue inflammation in 3D-cultured human adipocytes and explant cultures.
Soták M, Rajan MR, Clark M, ..., Lange S, Börgeson E
iScience 25 (7) 104602 [2022-07-15; online 2022-06-11]
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Equilibrated evolution of the mixed auto-/allopolyploid haplotype-resolved genome of the invasive hexaploid Prussian carp.
Kuhl H, Du K, Schartl M, ..., Stöck M, Lamatsch DK
Nat Commun 13 (1) 4092 [2022-07-14; online 2022-07-14]
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Single-cell transcriptional pharmacodynamics of trifluridine in a tumor-immune model.
Selvin T, Fasterius E, Jarvius M, ..., Larsson R, Andersson CR
Sci Rep 12 (1) 11960 [2022-07-13; online 2022-07-13]
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Integrated single cell and spatial transcriptomics reveal autoreactive differentiated B cells in joints of early rheumatoid arthritis.
Hardt U, Carlberg K, Af Klint E, ..., Ståhl PL, Malmström V
Sci Rep 12 (1) 11876 [2022-07-13; online 2022-07-13]
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High Variability of Fungal Communities Associated with the Functional Tissues and Rhizosphere Soil of Picea abies in the Southern Baltics
Marčiulynas A, Marčiulynienė D, Mishcherikova V, ..., Gedminas A, Menkis A
Forests 13 (7) 1103 [2022-07-13; online 2022-07-13]
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An atlas of endogenous DNA double-strand breaks arising during human neural cell fate determination.
Ballarino R, Bouwman BAM, Agostini F, ..., Bienko M, Crosetto N
Sci Data 9 (1) 400 [2022-07-12; online 2022-07-12]
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FLOWERING LOCUS T paralogs control the annual growth cycle in Populus trees.
André D, Marcon A, Lee KC, ..., Schmid M, Nilsson O
Curr. Biol. 32 (13) 2988-2996.e4 [2022-07-11; online 2022-06-03]
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Hoffman T, Sjödin A, Öhrman C, ..., Lundkvist Å, Olsen B
Microorganisms 10 (7) 1393 [2022-07-11; online 2022-07-11]
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Microplastic exposure across trophic levels: effects on the host-microbiota of freshwater organisms.
Varg JE, Outomuro D, Kunce W, ..., Svanbäck R, Johansson F
Environ Microbiome 17 (1) 36 [2022-07-06; online 2022-07-06]
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Single-cell RNA-sequencing analysis of the developing mouse inner ear identifies molecular logic of auditory neuron diversification.
Petitpré C, Faure L, Uhl P, ..., Hadjab S, Lallemend F
Nat Commun 13 (1) 3878 [2022-07-05; online 2022-07-05]
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Seasonal Dynamics in Carbon Cycling of Marine Bacterioplankton Are Lifestyle Dependent.
Martínez-García S, Bunse C, Pontiller B, ..., Legrand C, Pinhassi J
Front Microbiol 13 (-) 834675 [2022-07-05; online 2022-07-05]
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High-throughput muscle fiber typing from RNA sequencing data.
Oskolkov N, Santel M, Parikh HM, ..., Pääbo S, Hansson O
Skelet Muscle 12 (1) 16 [2022-07-02; online 2022-07-02]
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Practical application of a Bayesian network approach to poultry epigenetics and stress.
Videla Rodriguez EA, Pértille F, Guerrero-Bosagna C, ..., Jensen P, Smith VA
BMC Bioinformatics 23 (1) 261 [2022-07-01; online 2022-07-01]
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Weak population genetic structure in Eurasian spruce bark beetle over large regional scales in Sweden.
Ellerstrand SJ, Choudhury S, Svensson K, ..., Hansson B, Runemark A
Ecol Evol 12 (7) e9078 [2022-07-00; online 2022-07-06]
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Grey wolf genomic history reveals a dual ancestry of dogs.
Bergström A, Stanton DWG, Taron UH, ..., Dalén L, Skoglund P
Nature 607 (7918) 313-320 [2022-07-00; online 2022-06-29]
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Genomic dynamics of brown trout populations released to a novel environment.
Kurland S, Rafati N, Ryman N, Laikre L
Ecol Evol 12 (7) e9050 [2022-07-00; online 2022-07-03]
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Allorecognition genes drive reproductive isolation in Podospora anserina.
Ament-Velásquez SL, Vogan AA, Granger-Farbos A, ..., Clavé C, Johannesson H
Nat Ecol Evol 6 (7) 910-923 [2022-07-00; online 2022-05-12]
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Novotny A, Jan KMG, Dierking J, Winder M
Sci Rep 12 (1) 10952 [2022-06-29; online 2022-06-29]
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High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A, Nowikiewicz T, Olszewski P, ..., Dumanski JP, Piotrowski A
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Metatranscriptomics captures dynamic shifts in mycorrhizal coordination in boreal forests.
Law SR, Serrano AR, Daguerre Y, ..., Street NR, Hurry V
Proc. Natl. Acad. Sci. U.S.A. 119 (26) e2118852119 [2022-06-28; online 2022-06-21]
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MYCN induces cell-specific tumorigenic growth in RB1-proficient human retinal organoid and chicken retina models of retinoblastoma.
Blixt MKE, Hellsand M, Konjusha D, ..., Ring H, Hallböök F
Oncogenesis 11 (1) 34 [2022-06-21; online 2022-06-21]
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Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
Gorski M, Rasheed H, Teumer A, ..., Kronenberg F, Heid IM
Kidney Int. - (-) - [2022-06-16; online 2022-06-16]
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Molecular profiling of stem cell-derived retinal pigment epithelial cell differentiation established for clinical translation.
Petrus-Reurer S, Lederer AR, Baqué-Vidal L, ..., La Manno G, Lanner F
Stem Cell Reports 17 (6) 1458-1475 [2022-06-14; online 2022-06-16]
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CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer's disease PSEN 1 M146L mutation.
Konstantinidis E, Molisak A, Perrin F, ..., Berezovska O, Ingelsson M
Mol Ther Nucleic Acids 28 (-) 450-461 [2022-06-14; online 2022-03-28]
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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Winkler TW, Rasheed H, Teumer A, ..., Pattaro C, Heid IM
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Long-Term Warming of Baltic Sea Coastal Waters Affects Bacterial Communities in Bottom Water and Sediments Differently.
Seidel L, Broman E, Ståhle M, ..., Hylander S, Dopson M
Front Microbiol 13 (-) 873281 [2022-06-10; online 2022-06-10]
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Disturbance-based management of ecosystem services and disservices in partial nitritation-anammox biofilms.
Suarez C, Sedlacek CJ, Gustavsson DJI, ..., Hermansson M, Persson F
NPJ Biofilms Microbiomes 8 (1) 47 [2022-06-08; online 2022-06-08]
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Bioarchaeological evidence of one of the earliest Islamic burials in the Levant.
Srigyan M, Bolívar H, Ureña I, ..., Günther T, Valdiosera C
Commun Biol 5 (1) 554 [2022-06-07; online 2022-06-07]
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Developmental landscape of human forebrain at a single-cell level identifies early waves of oligodendrogenesis.
van Bruggen D, Pohl F, Langseth CM, ..., Sundström E, Castelo-Branco G
Dev. Cell 57 (11) 1421-1436.e5 [2022-06-06; online 2022-05-05]
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Accelerated epigenetic aging in suicide attempters uninfluenced by high intent-to-die and choice of lethal methods.
Jokinen J, Andersson P, Chatzittofis A, ..., Åsberg M, Boström ADE
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Robust derivation of transplantable dopamine neurons from human pluripotent stem cells by timed retinoic acid delivery.
Alekseenko Z, Dias JM, Adler AF, ..., Parmar M, Ericson J
Nat Commun 13 (1) 3046 [2022-06-01; online 2022-06-01]
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The mosaic oat genome gives insights into a uniquely healthy cereal crop.
Kamal N, Tsardakas Renhuldt N, Bentzer J, ..., Spannagl M, Sirijovski N
Nature 606 (7912) 113-119 [2022-06-00; online 2022-05-18]
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The HDAC9-associated risk locus promotes coronary artery disease by governing TWIST1.
Ma L, Bryce NS, Turner AW, ..., Björkegren JLM, Kovacic JC
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Gunnarsson R, Yang M, Biloglav A, ..., Paulsson K, Johansson B
Leukemia 36 (6) 1681-1684 [2022-06-00; online 2022-04-01]
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 188 (6) 1676-1687 [2022-06-00; online 2022-02-15]
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Millischer V, Matheson GJ, Bergen SE, ..., Lavebratt C, Schalling M
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Higher levels of Bifidobacteria and tumor necrosis factor in children with drug-resistant epilepsy are associated with anti-seizure response to the ketogenic diet.
Dahlin M, Singleton SS, David JA, ..., Mazumder R, Prast-Nielsen S
EBioMedicine 80 (-) 104061 [2022-06-00; online 2022-05-19]
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The era of reference genomes in conservation genomics.
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Clonal relations in the mouse brain revealed by single-cell and spatial transcriptomics.
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Vickovic S, Schapiro D, Carlberg K, ..., Regev A, Ståhl PL
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Parigi SM, Larsson L, Das S, ..., Lundeberg J, Villablanca EJ
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Hou XQ, Zhang DD, Powell D, ..., Andersson MN, Löfstedt C
BMC Biol. 20 (1) 34 [2022-02-07; online 2022-02-07]
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Schuy J, Eisfeldt J, Pettersson M, ..., Falk A, Lindstrand A
Front Genet 12 (-) 803683 [2022-02-04; online 2022-02-04]
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Pagnon de la Vega M, Näslund C, Brundin R, ..., Ingelsson M, Giedraitis V
BMC Genomics 23 (1) 99 [2022-02-04; online 2022-02-04]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Le Duc D, Velluva A, Cassatt-Johnstone M, ..., Shapiro B, Schöneberg T
Sci Adv 8 (5) eabl6496 [2022-02-04; online 2022-02-04]
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The miRNome function transitions from regulating developmental genes to transposable elements during pollen maturation.
Oliver C, Annacondia ML, Wang Z, ..., Köhler C, Martinez G
Plant Cell 34 (2) 784-801 [2022-02-03; online 2021-11-11]
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CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations.
Höijer I, Emmanouilidou A, Östlund R, ..., den Hoed M, Ameur A
Nat Commun 13 (1) 627 [2022-02-02; online 2022-02-02]
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Population genomics and geographic dispersal in Chagas disease vectors: Landscape drivers and evidence of possible adaptation to the domestic setting.
Hernandez-Castro LE, Villacís AG, Jacobs A, ..., Llewellyn MS, Grijalva MJ
PLoS Genet. 18 (2) e1010019 [2022-02-00; online 2022-02-04]
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Jörgensen K, Granath G, Strengbom J, Lindahl BD
Functional Ecology 36 (2) 392-405 [2022-02-00; online 2021-12-22]
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Edvardsen RB, Wallerman O, Furmanek T, ..., Norberg B, Rubin CJ
PLoS Genet. 18 (2) e1010011 [2022-02-00; online 2022-02-08]
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A genomic and morphometric analysis of alpine bumblebees: Ongoing reductions in tongue length but no clear genetic component.
Christmas MJ, Jones JC, Olsson A, ..., Miller-Struttmann NE, Webster MT
Mol. Ecol. 31 (4) 1111-1127 [2022-02-00; online 2021-12-07]
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A Verticillium longisporum pleiotropic drug transporter determines tolerance to the plant host β-pinene monoterpene.
Rafiei V, Ruffino A, Persson Hodén K, ..., Dubey M, Tzelepis G
Mol. Plant Pathol. 23 (2) 291-303 [2022-02-00; online 2021-11-26]
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Standards recommendations for the Earth BioGenome Project.
Lawniczak MKN, Durbin R, Flicek P, ..., Lewin HA, Richards S
Proc. Natl. Acad. Sci. U.S.A. 119 (4) - [2022-01-25; online 2022-01-20]
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Occasional paternal inheritance of the germline-restricted chromosome in songbirds.
Pei Y, Forstmeier W, Ruiz-Ruano FJ, ..., Suh A, Kempenaers B
Proc. Natl. Acad. Sci. U.S.A. 119 (4) - [2022-01-25; online 2022-01-22]
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Massive genome inversion drives coexistence of divergent morphs in common quails.
Sanchez-Donoso I, Ravagni S, Rodríguez-Teijeiro JD, ..., Leonard JA, Vilà C
Curr. Biol. 32 (2) 462-469.e6 [2022-01-24; online 2021-11-29]
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Fish Skin Microbiomes Are Highly Variable Among Individuals and Populations but Not Within Individuals.
Berggren H, Tibblin P, Yıldırım Y, ..., Lundin D, Forsman A
Front Microbiol 12 (-) 767770 [2022-01-21; online 2022-01-21]
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Cold case: The disappearance of Egypt bee virus, a fourth distinct master strain of deformed wing virus linked to honeybee mortality in 1970's Egypt.
de Miranda JR, Brettell LE, Chejanovsky N, ..., Martin SJ, Ball BV
Virol J 19 (1) 12 [2022-01-15; online 2022-01-15]
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Transcriptome Analysis of an Aedes albopictus Cell Line Single- and Dual-Infected with Lammi Virus and WNV.
Öhlund P, Delhomme N, Hayer J, Hesson JC, Blomström AL
Int J Mol Sci 23 (2) - [2022-01-14; online 2022-01-14]
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Plant Growth-Promoting Activity of Pseudomonas aeruginosa FG106 and Its Ability to Act as a Biocontrol Agent against Potato, Tomato and Taro Pathogens.
Ghadamgahi F, Tarighi S, Taheri P, ..., Ortiz R, Vetukuri RR
Biology (Basel) 11 (1) - [2022-01-14; online 2022-01-14]
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The formation of avian montane diversity across barriers and along elevational gradients.
Pujolar JM, Blom MPK, Reeve AH, ..., Irestedt M, Jønsson KA
Nat Commun 13 (1) 268 [2022-01-12; online 2022-01-12]
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Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression.
Stratmann S, Yones SA, Garbulowski M, ..., Komorowski J, Holmfeldt L
Blood Adv 6 (1) 152-164 [2022-01-11; online 2021-10-08]
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Connectivity of Fennoscandian Shield terrestrial deep biosphere microbiomes with surface communities.
Westmeijer G, Mehrshad M, Turner S, ..., Bertilsson S, Dopson M
Commun Biol 5 (1) 37 [2022-01-11; online 2022-01-11]
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Canonical WNT signaling-dependent gating of MYC requires a noncanonical CTCF function at a distal binding site.
Chachoua I, Tzelepis I, Dai H, ..., Mehmood R, Göndör A
Nat Commun 13 (1) 204 [2022-01-11; online 2022-01-11]
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Fungal Perspective of Pine and Oak Colonization in Mediterranean Degraded Ecosystems
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Genomic Signatures of Sexual Selection on Pollen-Expressed Genes in Arabis alpina.
Gutiérrez-Valencia J, Fracassetti M, Horvath R, ..., Kolář F, Slotte T
Mol. Biol. Evol. 39 (1) - [2022-01-07; online 2021-12-09]
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Land-use intensification differentially affects bacterial, fungal and protist communities and decreases microbiome network complexity.
Romdhane S, Spor A, Banerjee S, ..., Saghai A, Philippot L
Environ Microbiome 17 (1) 1 [2022-01-06; online 2022-01-06]
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Metabolic resistance to the inhibition of mitochondrial transcription revealed by CRISPR-Cas9 screen.
Mennuni M, Filograna R, Felser A, ..., Lytovchenko O, Larsson N
EMBO Rep. 23 (1) e53054 [2022-01-05; online 2021-11-15]
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Risk of Revision After Arthroplasty Associated with Specific Gene Loci: A Genomewide Association Study of Single-Nucleotide Polymorphisms in 1,130 Twins Treated with Arthroplasty.
Brüggemann A, Eriksson N, Michaëlsson K, Hailer NP
J Bone Joint Surg Am 104 (7) 610-620 [2022-01-04; online 2022-01-04]
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Whole-genome resequencing confirms reproductive isolation between sympatric demes of brown trout (Salmo trutta) detected with allozymes.
Saha A, Andersson A, Kurland S, ..., Ryman N, Laikre L
Mol. Ecol. 31 (2) 498-511 [2022-01-00; online 2021-11-15]
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Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology.
Skaftason A, Qu Y, Abdulla M, ..., Rosenquist R, Mansouri L
Genes Chromosomes Cancer 61 (1) 27-36 [2022-01-00; online 2021-10-23]
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Proteome-scale mapping of binding sites in the unstructured regions of the human proteome.
Benz C, Ali M, Krystkowiak I, ..., Davey NE, Ivarsson Y
Mol. Syst. Biol. 18 (1) e10584 [2022-01-00; online 2022-01-20]
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Phytophthora infestans Ago1-associated miRNA promotes potato late blight disease.
Hu X, Persson Hodén K, Liao Z, Åsman A, Dixelius C
New Phytol. 233 (1) 443-457 [2022-01-00; online 2021-10-27]
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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, ..., Renieri A, Furini S
Hum. Genet. 141 (1) 147-173 [2022-01-00; online 2021-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2021

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Biased TCR gene usage in citrullinated Tenascin C specific T-cells in rheumatoid arthritis.
Sharma RK, Boddul SV, Yoosuf N, ..., Klareskog L, Malmström V
Sci Rep 11 (1) 24512 [2021-12-31; online 2021-12-31]
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Pan-AMPK activator O304 prevents gene expression changes and remobilisation of histone marks in islets of diet-induced obese mice.
López-Pérez A, Norlin S, Steneberg P, ..., Edlund H, Hörnblad A
Sci Rep 11 (1) 24410 [2021-12-23; online 2021-12-23]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Taxon-Specific Shifts in Bacterial and Archaeal Transcription of Dissolved Organic Matter Cycling Genes in a Stratified Fjord.
Pontiller B, Pérez-Martínez C, Bunse C, ..., Lundin D, Pinhassi J
mSystems 6 (6) e0057521 [2021-12-21; online 2021-12-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Phytoplankton settling quality has a subtle but significant effect on sediment microeukaryotic and bacterial communities.
Albert S, Hedberg P, Motwani NH, ..., Winder M, Nascimento FJA
Sci Rep 11 (1) 24033 [2021-12-15; online 2021-12-15]
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A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.
Riaz M, Mattisson J, Polekhina G, ..., Forsberg LA, Lacaze P
Cell Biosci 11 (1) 205 [2021-12-12; online 2021-12-12]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Meta-analyses identify DNA methylation associated with kidney function and damage.
Schlosser P, Tin A, Matias-Garcia PR, ..., Köttgen A, Teumer A
Nat Commun 12 (1) 7174 [2021-12-09; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.
Tin A, Schlosser P, Matias-Garcia PR, ..., Teumer A, Köttgen A
Nat Commun 12 (1) 7173 [2021-12-09; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide spatial expression profiling in formalin-fixed tissues.
Gracia Villacampa E, Larsson L, Mirzazadeh R, ..., Carlson J, Lundeberg J
Cell Genomics 1 (3) 100065 [2021-12-08; online 2021-12-08]
NGI Short read [Service] NGI Spatial omics [Service] National Genomics Infrastructure [Service]
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Male-biased migration from East Africa introduced pastoralism into southern Africa.
Vicente M, Lankheet I, Russell T, ..., Jongh M, Schlebusch CM
BMC Biol. 19 (1) 259 [2021-12-07; online 2021-12-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The SEQC2 epigenomics quality control (EpiQC) study.
Foox J, Nordlund J, Lalancette C, ..., Deng Y, Mason CE
Genome Biol. 22 (1) 332 [2021-12-06; online 2021-12-06]
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Interplay between eutrophication and climate warming on bacterial communities in coastal sediments differs depending on water depth and oxygen history.
Seidel L, Broman E, Turner S, Ståhle M, Dopson M
Sci Rep 11 (1) 23384 [2021-12-03; online 2021-12-03]
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Global similarity, and some key differences, in the metagenomes of Swedish varroa-surviving and varroa-susceptible honeybees.
Thaduri S, Marupakula S, Terenius O, ..., Locke B, de Miranda JR
Sci Rep 11 (1) 23214 [2021-12-01; online 2021-12-01]
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The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, ..., Sun YV, Willer CJ
Nature 600 (7890) 675-679 [2021-12-00; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The genomics of heart failure: design and rationale of the HERMES consortium.
Lumbers RT, Shah S, Lin H, ..., Vasan RS, Smith JG
ESC Heart Failure 8 (6) 5531-5541 [2021-12-00; online 2021-09-03]
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Pyramiding of scald resistance genes in four spring barley MAGIC populations.
Hautsalo J, Novakazi F, Jalli M, ..., Bengtsson T, PPP Barley Consortium
Theor. Appl. Genet. 134 (12) 3829-3843 [2021-12-00; online 2021-08-04]
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Long-term agricultural management impacts arbuscular mycorrhizal fungi more than short-term experimental drought
Kozjek K, Kundel D, Kushwaha SK, ..., Birkhofer K, Hedlund K
Applied Soil Ecology 168 (-) 104140 [2021-12-00; online 2021-12-00]
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Historical population declines prompted significant genomic erosion in the northern and southern white rhinoceros (Ceratotherium simum).
Sánchez-Barreiro F, Gopalakrishnan S, Ramos-Madrigal J, ..., Moodley Y, Gilbert MTP
Mol. Ecol. 30 (23) 6355-6369 [2021-12-00; online 2021-07-07]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome.
Norheim KB, Imgenberg-Kreuz J, Alexsson A, ..., Ronnblom L, Omdal R
RMD Open 7 (3) - [2021-12-00; online 2021-12-16]
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Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis.
Mäkinen A, Nikkilä A, Mehtonen J, ..., Paavonen T, Lohi O
Pathology 53 (7) 875-882 [2021-12-00; online 2021-05-26]
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Evolutionary history of the extinct Sardinian dhole
Ciucani MM, Jensen JK, Sinding MHS, ..., Gilbert MTP, Gopalakrishnan S
Current Biology 31 (24) 5571-5579.e6 [2021-12-00; online 2021-12-00]
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An atlas of the Norway spruce needle seasonal transcriptome.
Bag P, Lihavainen J, Delhomme N, ..., Robinson KM, Jansson S
Plant J. 108 (6) 1815-1829 [2021-12-00; online 2021-10-21]
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Dredging and deposition of metal sulfide rich river sediments results in rapid conversion to acid sulfate soil materials.
Johnson A, Högfors-Rönnholm E, Engblom S, ..., Åström M, Dopson M
Sci. Total Environ. - (-) 151864 [2021-11-23; online 2021-11-23]
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Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study.
Zerdes I, Simonetti M, Matikas A, ..., Crosetto N, Foukakis T
NPJ Breast Cancer 7 (1) 144 [2021-11-19; online 2021-11-19]
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Single cell genomics reveals plastid-lacking Picozoa are close relatives of red algae.
Schön ME, Zlatogursky VV, Singh RP, ..., Wideman JG, Burki F
Nat Commun 12 (1) 6651 [2021-11-17; online 2021-11-17]
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J Ecol - (-) - [2021-11-17; online 2021-11-17]
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Comparison of EM-seq and PBAT methylome library methods for low-input DNA.
Han Y, Zheleznyakova GY, Marincevic-Zuniga Y, ..., Needhamsen M, Jagodic M
Epigenetics 17 (10) 1195-1204 [2021-11-17; online 2021-11-17]
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Grosche S, Marenholz I, Esparza-Gordillo J, ..., Xu C, Lee Y
Nat Commun 12 (1) 6618 [2021-11-16; online 2021-11-16]
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Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
Sáinz-Jaspeado M, Smith RO, Plunde O, ..., Bäck M, Claesson-Welsh L
Circulation 144 (20) 1629-1645 [2021-11-16; online 2021-10-12]
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MapToCleave: High-throughput profiling of microRNA biogenesis in living cells.
Kang W, Fromm B, Houben AJ, ..., Biryukova I, Friedländer MR
Cell Rep 37 (7) 110015 [2021-11-16; online 2021-11-18]
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Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.
Zhao Y, Fang LT, Shen T, ..., Hong H, Xiao W
Sci Data 8 (1) 296 [2021-11-09; online 2021-11-09]
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Tracing the evolution of aneuploid cancers by multiregional sequencing with CRUST.
Chattopadhyay S, Karlsson J, Valind A, Andersson N, Gisselsson D
Brief. Bioinformatics 22 (6) - [2021-11-05; online 2021-08-04]
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Neuroimage 245 (-) 118707 [2021-11-03; online 2021-11-03]
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Small RNA Response to Infection of the Insect-Specific Lammi Virus and Hanko Virus in an Aedes albopictus Cell Line.
Öhlund P, Hayer J, Hesson JC, Blomström AL
Viruses 13 (11) - [2021-10-29; online 2021-10-29]
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Microbial Plankton Community Structure and Function Responses to Vitamin B12 and B1 Amendments in an Upwelling System.
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Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
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Hered Cancer Clin Pract 19 (1) 46 [2021-10-28; online 2021-10-28]
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J. Virol. 95 (22) e0038721 [2021-10-27; online 2021-09-01]
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Adaptive Introgression Facilitates Adaptation to High Latitudes in European Aspen (Populus tremula L.).
Rendón-Anaya M, Wilson J, Sveinsson S, ..., Street NR, Ingvarsson PK
Mol. Biol. Evol. 38 (11) 5034-5050 [2021-10-27; online 2021-07-31]
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The oral microbiota of wild bears in Sweden reflects the history of antibiotic use by humans.
Brealey JC, Leitão HG, Hofstede T, Kalthoff DC, Guschanski K
Curr. Biol. 31 (20) 4650-4658.e6 [2021-10-25; online 2021-08-25]
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Milking system and premilking routines have strong effect on the microbial community in bulk tank milk.
Sun L, Lundh Å, Höjer A, ..., Saedén KH, Dicksved J
J Dairy Sci - (-) - [2021-10-22; online 2021-10-22]
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Tang Q, Burri R, Liu Y, ..., Heckel G, Schweizer M
Mol. Ecol. - (-) - [2021-10-21; online 2021-10-21]
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Transcriptome Analysis of Potato Infected with the Necrotrophic Pathogen Alternaria solani.
Brouwer SM, Brus-Szkalej M, Saripella GV, ..., Liljeroth E, Grenville-Briggs LJ
Plants (Basel) 10 (10) - [2021-10-18; online 2021-10-18]
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Frailty and the risk of dementia: is the association explained by shared environmental and genetic factors?
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BMC Med 19 (1) 248 [2021-10-18; online 2021-10-18]
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RNA sequencing reveals metabolic and regulatory changes leading to more robust fermentation performance during short-term adaptation of Saccharomyces cerevisiae to lignocellulosic inhibitors.
van Dijk M, Rugbjerg P, Nygård Y, Olsson L
Biotechnol Biofuels 14 (1) 201 [2021-10-15; online 2021-10-15]
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Spatial deconvolution of HER2-positive breast cancer delineates tumor-associated cell type interactions.
Andersson A, Larsson L, Stenbeck L, ..., Engblom C, Lundeberg J
Nat Commun 12 (1) 6012 [2021-10-14; online 2021-10-14]
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Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens.
Li J, Lee MO, Chen J, ..., Chuong CM, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 118 (41) - [2021-10-12; online 2021-10-06]
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Philippine Ayta possess the highest level of Denisovan ancestry in the world.
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Curr. Biol. 31 (19) 4219-4230.e10 [2021-10-11; online 2021-08-12]
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HPA axis dysregulation is associated with differential methylation of CpG-sites in related genes.
Chatzittofis A, Boström ADE, Ciuculete DM, ..., Schiöth HB, Jokinen J
Sci Rep 11 (1) 20134 [2021-10-11; online 2021-10-11]
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Chromosome-level genome assembly and transcriptome-based annotation of the oleaginous yeast Rhodotorula toruloides CBS 14.
Martín-Hernández GC, Müller B, Chmielarz M, ..., Viehweger A, Passoth V
Genomics 113 (6) 4022-4027 [2021-10-11; online 2021-10-11]
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Inhibition of the ubiquitin-proteasome system by an NQO1-activatable compound.
Giovannucci TA, Salomons FA, Haraldsson M, ..., Johnsen JI, Dantuma NP
Cell Death Dis 12 (10) 914 [2021-10-06; online 2021-10-06]
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Distinct B cell subsets in Peyer's patches convey probiotic effects by Limosilactobacillus reuteri.
Liu HY, Giraud A, Seignez C, ..., Bertilsson S, Phillipson M
Microbiome 9 (1) 198 [2021-10-03; online 2021-10-03]
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The role of H3K36 methylation and associated methyltransferases in chromosome-specific gene regulation.
Lindehell H, Glotov A, Dorafshan E, Schwartz YB, Larsson J
Sci Adv 7 (40) eabh4390 [2021-10-00; online 2021-10-01]
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Pregnancy-related hormones and COMT genotype: Associations with maternal working memory.
Amiel Castro R, Kunovac Kallak T, Sundström Poromaa I, ..., Ehlert U, Skalkidou A
Psychoneuroendocrinology 132 (-) 105361 [2021-10-00; online 2021-07-17]
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Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.
Ilumäe AM, Post H, Flores R, ..., Rootsi S, Villems R
Eur. J. Hum. Genet. 29 (10) 1510-1519 [2021-10-00; online 2021-05-07]
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Maternal genetic origin of the late and final Neolithic human populations from present-day Poland.
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Am. J. Phys. Anthropol. 176 (2) 223-236 [2021-10-00; online 2021-07-26]
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G
J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]
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Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.
Sundbaum JK, Baecklund E, Eriksson N, ..., Wadelius M, Hallberg P
Pharmacogenomics 22 (15) 973-982 [2021-10-00; online 2021-09-15]
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Ecologically coherent population structure of uncultivated bacterioplankton.
Sjöqvist C, Delgado LF, Alneberg J, Andersson AF
ISME J 15 (10) 3034-3049 [2021-10-00; online 2021-05-05]
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DE-ETIOLATED1 has a role in the circadian clock of the liverwort Marchantia polymorpha.
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New Phytol. 232 (2) 595-609 [2021-10-00; online 2021-08-19]
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ZBED6 regulates Igf2 expression partially through its regulation of miR483 expression.
Naboulsi R, Larsson M, Andersson L, Younis S
Sci Rep 11 (1) 19484 [2021-09-30; online 2021-09-30]
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In-depth Phylogenomic Analysis of Arbuscular Mycorrhizal Fungi Based on a Comprehensive Set of de novo Genome Assemblies
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Front. Fungal Biol. 2 (-) - [2021-09-29; online 2021-09-29]
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Composition and Seasonality of Membrane Transporters in Marine Picoplankton.
Hagström Å, Zweifel UL, Sundh J, ..., Müller-Karulis B, Pinhassi J
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Saturation mutagenesis charts the functional landscape of Salmonella ProQ and reveals a gene regulatory function of its C-terminal domain.
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Nucleic Acids Res. 49 (17) 9992-10006 [2021-09-27; online 2021-08-28]
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Comparison of DNA and RNA sequencing of total nucleic acids from human cervix for metagenomics.
Arroyo Mühr LS, Dillner J, Ure AE, Sundström K, Hultin E
Sci Rep 11 (1) 18852 [2021-09-22; online 2021-09-22]
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Avian neo-sex chromosomes reveal dynamics of recombination suppression and W degeneration.
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Mol. Biol. Evol. 38 (12) 5275-5291 [2021-09-20; online 2021-09-20]
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Single-Cell Analysis Reveals Major Histocompatibility Complex II‒Expressing Keratinocytes in Pressure Ulcers with Worse Healing Outcomes.
Li D, Cheng S, Pei Y, ..., Deng Q, Xu Landén N
J. Invest. Dermatol. - (-) - [2021-09-16; online 2021-09-16]
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Ancient and modern genomes unravel the evolutionary history of the rhinoceros family.
Liu S, Westbury MV, Dussex N, ..., Dalén L, Gilbert MTP
Cell 184 (19) 4874-4885.e16 [2021-09-16; online 2021-08-24]
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Dual RNA-seq transcriptome analysis of caecal tissue during primary Eimeria tenella infection in chickens.
Sandholt AKS, Wattrang E, Lilja T, ..., Svärd SG, Söderlund R
BMC Genomics 22 (1) 660 [2021-09-14; online 2021-09-14]
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The avian W chromosome is a refugium for endogenous retroviruses with likely effects on female-biased mutational load and genetic incompatibilities.
Peona V, Palacios-Gimenez OM, Blommaert J, ..., Jern P, Suh A
Philos. Trans. R. Soc. Lond., B, Biol. Sci. 376 (1833) 20200186 [2021-09-13; online 2021-07-26]
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A highly-contiguous genome assembly of the Eurasian spruce bark beetle, Ips typographus, provides insight into a major forest pest.
Powell D, Groβe-Wilde E, Krokene P, ..., Andersson MN, Schlyter F
Commun Biol 4 (1) 1059 [2021-09-09; online 2021-09-09]
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Temporally balanced selection during development of larval Pacific oysters (Crassostrea gigas) inherently preserves genetic diversity within offspring.
Durland E, De Wit P, Langdon C
Proc. Biol. Sci. 288 (1958) 20203223 [2021-09-08; online 2021-09-01]
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Selection on accessible chromatin regions in Capsella grandiflora.
Horvath R, Josephs EB, Pesquet E, ..., Scofield D, Slotte T
Mol. Biol. Evol. - (-) - [2021-09-08; online 2021-09-08]
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Spatial mapping reveals human adipocyte subpopulations with distinct sensitivities to insulin.
Bäckdahl J, Franzén L, Massier L, ..., Ståhl PL, Mejhert N
Cell Metab. 33 (9) 1869-1882.e6 [2021-09-07; online 2021-08-10]
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Single-nuclei transcriptomes from human adrenal gland reveal distinct cellular identities of low and high-risk neuroblastoma tumors.
Bedoya-Reina OC, Li W, Arceo M, ..., Kogner P, Schlisio S
Nat Commun 12 (1) 5309 [2021-09-07; online 2021-09-07]
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Stop codon readthrough alters the activity of a POU/Oct transcription factor during Drosophila development.
Zhao Y, Lindberg BG, Esfahani SS, ..., Piazza S, Engström Y
BMC Biol. 19 (1) 185 [2021-09-03; online 2021-09-03]
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Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing.
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Nat. Biotechnol. 39 (9) 1141-1150 [2021-09-00; online 2021-09-09]
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The microRNA response associated with methyl jasmonate-induced resistance in Norway spruce bark
Wilkinson SW, Vivian-Smith A, Krokene P, Mageroy MH
Plant Gene 27 (-) 100301 [2021-09-00; online 2021-09-00]
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The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels.
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PLoS Genet. 17 (9) e1009726 [2021-09-00; online 2021-09-02]
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Soil physico-chemical properties have a greater effect on soil fungi than host species in Mediterranean pure and mixed pine forests
Adamo I, Castaño C, Bonet JA, ..., Martínez de Aragón J, Alday JG
Soil Biology and Biochemistry 160 (-) 108320 [2021-09-00; online 2021-09-00]
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Reindeer control over subarctic treeline alters soil fungal communities with potential consequences for soil carbon storage.
Ylänne H, Madsen RL, Castaño C, Metcalfe DB, Clemmensen KE
Glob Chang Biol 27 (18) 4254-4268 [2021-09-00; online 2021-06-14]
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Regulatory T cells reduce endothelial neutral sphingomyelinase 2 to prevent T-cell migration into tumors.
Akeus P, Szeponik L, Langenes V, ..., Slusher BS, Quiding-Järbrink M
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Positive selection plays a major role in shaping signatures of differentiation across the genomic landscape of two independent Ficedula flycatcher species pairs.
Chase MA, Ellegren H, Mugal CF
Evolution 75 (9) 2179-2196 [2021-09-00; online 2021-05-03]
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Novel genome reveals susceptibility of popular gamebird, the red-legged partridge (Alectoris rufa, Phasianidae), to climate change.
Chattopadhyay B, Forcina G, Garg KM, ..., Barbanera F, Rheindt FE
Genomics 113 (5) 3430-3438 [2021-09-00; online 2021-08-13]
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Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus.
Reid S, Hagberg N, Sandling JK, ..., Rönnblom L, Leonard D
Ann. Rheum. Dis. 80 (9) 1183-1189 [2021-09-00; online 2021-03-25]
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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
Fang LT, Zhu B, Zhao Y, ..., Xiao W, Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium
Nat. Biotechnol. 39 (9) 1151-1160 [2021-09-00; online 2021-09-09]
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Climate warming dominates over plant genotype in shaping the seasonal trajectory of foliar fungal communities on oak.
Faticov M, Abdelfattah A, Roslin T, ..., Lindahl BD, Tack AJM
New Phytol. 231 (5) 1770-1783 [2021-09-00; online 2021-06-18]
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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.
Wightman DP, Jansen IE, Savage JE, ..., Andreassen OA, Posthuma D
Nat. Genet. 53 (9) 1276-1282 [2021-09-00; online 2021-09-07]
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A genome-wide association study of the frailty index highlights brain pathways in ageing.
Atkins JL, Jylhävä J, Pedersen NL, ..., Williams DM, Pilling LC
Aging Cell 20 (9) e13459 [2021-09-00; online 2021-08-25]
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Exploring the β-tubulin gene family in a benzimidazole-resistant Parascaris univalens population.
Martin F, Halvarsson P, Delhomme N, Höglund J, Tydén E
International Journal for Parasitology: Drugs and Drug Resistance 17 (-) 84-91 [2021-08-26; online 2021-08-26]
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Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia.
Kolijn PM, Muggen AF, Ljungström V, ..., Rosenquist R, Langerak AW
Front Oncol 11 (-) 740083 [2021-08-26; online 2021-08-26]
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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
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Front Genet 12 (-) 708348 [2021-08-26; online 2021-08-26]
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Amnion signals are essential for mesoderm formation in primates.
Yang R, Goedel A, Kang Y, ..., Niu Y, Chien KR
Nat Commun 12 (1) 5126 [2021-08-26; online 2021-08-26]
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Small-scale sequencing enables quality assessment of Ribo-Seq data: an example from Arabidopsis cell culture.
Mahboubi A, Delhomme N, Häggström S, Hanson J
Plant Methods 17 (1) 92 [2021-08-24; online 2021-08-24]
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Ecological Specialization and Evolutionary Reticulation in Extant Hyaenidae.
Westbury MV, Le Duc D, Duchêne DA, ..., Schöneberg T, Hofreiter M
Mol. Biol. Evol. 38 (9) 3884-3897 [2021-08-23; online 2021-08-25]
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Community composition of aquatic fungi across the thawing Arctic.
Kluge M, Wurzbacher C, Wauthy M, ..., Stenlid J, Peura S
Sci Data 8 (1) 221 [2021-08-19; online 2021-08-19]
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Haplotype-Specific Expression Analysis of MHC Class II Genes in Healthy Individuals and Rheumatoid Arthritis Patients.
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Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors.
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Characterization of Dynamic Regulatory Gene and Protein Networks in Wheat Roots Upon Perceiving Water Deficit Through Comparative Transcriptomics Survey.
Rahimi Y, Ingvarsson PK, Bihamta MR, ..., Taleei A, Khoshnoodi Jabar Abadi S
Front Plant Sci 12 (-) 710867 [2021-08-16; online 2021-08-16]
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Transcriptome Analysis of Post-Mortem Brain Tissue Reveals Up-Regulation of the Complement Cascade in a Subgroup of Schizophrenia Patients.
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Site-Dependent Relationships Between Fungal Community Composition, Plant Genotypic Diversity and Environmental Drivers in a Salix Biomass System
Hoeber S, Baum C, Weih M, Manzoni S, Fransson P
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Single-cell analysis pinpoints distinct populations of cytotoxic CD4+ T cells and an IL-10+CD109+ TH2 cell population in nasal polyps.
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Sci Immunol 6 (62) - [2021-08-13; online 2021-08-15]
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Candidatus Methylumidiphilus Drives Peaks in Methanotrophic Relative Abundance in Stratified Lakes and Ponds Across Northern Landscapes.
Martin G, Rissanen AJ, Garcia SL, ..., Buck M, Peura S
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Diffusible signal factor signaling controls bioleaching activity and niche protection in the acidophilic, mineral-oxidizing leptospirilli.
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Sci Rep 11 (1) 16275 [2021-08-11; online 2021-08-11]
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Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia.
Sayyab S, Lundmark A, Larsson M, ..., Nordlund J, Syvänen A
Sci Rep 11 (1) 15988 [2021-08-06; online 2021-08-06]
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Complete Genome Sequence and Methylome of the Type Strain of Shewanella algae.
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Microbiol Resour Announc 10 (31) e0055921 [2021-08-05; online 2021-08-05]
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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.
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Acta Neuropathol Commun 9 (1) 132 [2021-08-03; online 2021-08-03]
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PopulusPtERF85 Balances Xylem Cell Expansion and Secondary Cell Wall Formation in Hybrid Aspen.
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Cells 10 (8) 1971 [2021-08-03; online 2021-08-03]
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Genome-wide estrogen receptor β chromatin binding in human colon cancer cells reveals its tumor suppressor activity.
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Int. J. Cancer 149 (3) 692-706 [2021-08-01; online 2021-04-05]
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The exon-junction complex helicase eIF4A3 controls cell fate via coordinated regulation of ribosome biogenesis and translational output.
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Sci Adv 7 (32) - [2021-08-00; online 2021-08-04]
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Terrestrial dissolved organic matter inflow drives temporal dynamics of the bacterial community of a subarctic estuary (northern Baltic Sea).
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Environ. Microbiol. 23 (8) 4200-4213 [2021-08-00; online 2021-06-01]
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SFRP2 induces a mesenchymal subtype transition by suppression of SOX2 in glioblastoma.
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Oncogene 40 (32) 5066-5080 [2021-08-00; online 2021-05-21]
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Molecular architecture of the developing mouse brain.
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Nature 596 (7870) 92-96 [2021-08-00; online 2021-07-28]
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Long- and short-read metabarcoding technologies reveal similar spatiotemporal structures in fungal communities.
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Mol Ecol Resour 21 (6) 1833-1849 [2021-08-00; online 2021-05-06]
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Genomic inference of contemporary effective population size in a large island population of collared flycatchers (Ficedula albicollis).
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Mol. Ecol. 30 (16) 3965-3973 [2021-08-00; online 2021-07-01]
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Genetic insights into biological mechanisms governing human ovarian ageing.
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Nature 596 (7872) 393-397 [2021-08-00; online 2021-08-04]
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Dynamics of Baltic Sea phages driven by environmental changes.
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Environ. Microbiol. 23 (8) 4576-4594 [2021-08-00; online 2021-07-07]
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Genetic association study of childhood aggression across raters, instruments, and age.
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Transl Psychiatry 11 (1) 413 [2021-07-30; online 2021-07-30]
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Genetic Barriers to Historical Gene Flow between Cryptic Species of Alpine Bumblebees Revealed by Comparative Population Genomics.
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Mol. Biol. Evol. 38 (8) 3126-3143 [2021-07-29; online 2021-04-07]
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Complex population structure of the Atlantic puffin revealed by whole genome analyses.
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Commun Biol 4 (1) 922 [2021-07-29; online 2021-07-29]
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Unraveling negative biotic interactions determining soil microbial community assembly and functioning.
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Single-cell analysis of mosquito hemocytes identifies signatures of immune cell subtypes and cell differentiation.
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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99.
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Sci Rep 11 (1) 15160 [2021-07-26; online 2021-07-26]
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Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
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A genome sequence resource for the genus Passiflora, the genome of the wild diploid species Passiflora organensis.
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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
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Sci Rep 11 (1) 14763 [2021-07-20; online 2021-07-20]
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DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome.
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Front Immunol 12 (-) 702037 [2021-07-16; online 2021-07-16]
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Energy efficiency and biological interactions define the core microbiome of deep oligotrophic groundwater.
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Nat Commun 12 (1) 4253 [2021-07-12; online 2021-07-12]
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Single-cell RNAseq and longitudinal proteomic analysis of a novel semi-spontaneous urothelial cancer model reveals tumor cell heterogeneity and pretumoral urine protein alterations.
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PLoS ONE 16 (7) e0253178 [2021-07-07; online 2021-07-07]
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Genomic Predictions With Nonadditive Effects Improved Estimates of Additive Effects and Predictions of Total Genetic Values in Pinus sylvestris.
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Front Plant Sci 12 (-) 666820 [2021-07-07; online 2021-07-07]
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Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis.
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High-Quality Genome Assembly and Comprehensive Transcriptome of the Painted Lady Butterfly Vanessa cardui.
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Genome Biol Evol 13 (7) - [2021-07-06; online 2021-07-21]
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Candidate regulators and target genes of drought stress in needles and roots of Norway spruce.
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Tree Physiol 41 (7) 1230-1246 [2021-07-05; online 2021-01-09]
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Comparative analyses of the Hymenoscyphus fraxineus and Hymenoscyphus albidus genomes reveals potentially adaptive differences in secondary metabolite and transposable element repertoires.
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Whole genome sequencing reveals high differentiation, low levels of genetic diversity and short runs of homozygosity among Swedish wels catfish.
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Heredity (Edinb) 127 (1) 79-91 [2021-07-00; online 2021-05-07]
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Variants in BANK1 are associated with lupus nephritis of European ancestry.
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Genes Immun. 22 (3) 194-202 [2021-07-00; online 2021-06-14]
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The genomics of phenotypically differentiated Asellus aquaticus cave, surface stream and lake ecotypes.
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Mol. Ecol. 30 (14) 3530-3547 [2021-07-00; online 2021-06-08]
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Single-cell CUT&Tag profiles histone modifications and transcription factors in complex tissues.
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Mol. Ecol. 30 (14) 3515-3529 [2021-07-00; online 2021-06-11]
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On the origin of the widespread self-compatible allotetraploid Capsella bursa-pastoris (Brassicaceae).
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Heredity (Edinb) 127 (1) 124-134 [2021-07-00; online 2021-04-19]
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Mammuthus sp. (Early and Middle Pleistocene Mammoths).
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Trends Genet. 37 (7) 682-683 [2021-07-00; online 2021-05-11]
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Insights into the multitrophic interactions between the biocontrol agent Bacillus subtilis MBI 600, the pathogen Botrytis cinerea and their plant host.
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High throughput shotgun sequencing of eRNA reveals taxonomic and derived functional shifts across a benthic productivity gradient.
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Mol. Ecol. 30 (13) 3023-3039 [2021-07-00; online 2020-08-19]
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FGFR1 overexpression in non-small cell lung cancer is mediated by genetic and epigenetic mechanisms and is a determinant of FGFR1 inhibitor response.
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Extreme Y chromosome polymorphism corresponds to five male reproductive morphs of a freshwater fish.
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Nat Ecol Evol 5 (7) 939-948 [2021-07-00; online 2021-05-06]
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Bifidobacteria-mediated immune system imprinting early in life
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A group of ectomycorrhizal fungi restricts organic matter accumulation in boreal forest.
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Towards Bioleaching of a Vanadium Containing Magnetite for Metal Recovery.
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DNA metabarcoding reveals trophic niche diversity of micro and mesozooplankton species.
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Proc. Biol. Sci. 288 (1953) 20210908 [2021-06-30; online 2021-06-16]
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Combined prenatal Lactobacillus reuteri and ω-3 supplementation synergistically modulates DNA methylation in neonatal T helper cells.
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Clin Epigenetics 13 (1) 135 [2021-06-30; online 2021-06-30]
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
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A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.
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Nat Commun 12 (1) 3987 [2021-06-28; online 2021-06-28]
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Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring.
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Toll-like receptor 4 methylation grade is linked to depressive symptom severity.
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Profiling temporal dynamics of acetogenic communities in anaerobic digesters using next-generation sequencing and T-RFLP.
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COVseq is a cost-effective workflow for mass-scale SARS-CoV-2 genomic surveillance.
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Nat Commun 12 (1) 3903 [2021-06-23; online 2021-06-23]
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The γ-tubulin meshwork assists in the recruitment of PCNA to chromatin in mammalian cells.
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Commun Biol 4 (1) 767 [2021-06-22; online 2021-06-22]
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Development of a PacBio Long-Read Sequencing Assay for High Throughput Detection of Fungicide Resistance in Zymoseptoria tritici.
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Front Microbiol 12 (-) 692845 [2021-06-18; online 2021-06-18]
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Differential DNA Methylation of the Genes for Amyloid Precursor Protein, Tau, and Neurofilaments in Human Traumatic Brain Injury.
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Differences in the genome, methylome, and transcriptome do not differentiate isolates of Streptococcus equi subsp. equi from horses with acute clinical signs from isolates of inapparent carriers.
Morris ERA, Boyle AG, Riihimäki M, ..., Pringle J, Cohen ND
PLoS ONE 16 (6) e0252804 [2021-06-14; online 2021-06-14]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Leveraging breeding programs and genomic data in Norway spruce (Picea abies L. Karst) for GWAS analysis.
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Genome Biol. 22 (1) 179 [2021-06-13; online 2021-06-13]
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DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML).
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Genes 12 (6) 895 [2021-06-10; online 2021-06-10]
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Variable kinship patterns in Neolithic Anatolia revealed by ancient genomes.
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Reinforcing one-carbon metabolism via folic acid/Folr1 promotes β-cell differentiation.
Karampelias C, Rezanejad H, Rosko M, ..., Korbutt GS, Andersson O
Nat Commun 12 (1) 3362 [2021-06-07; online 2021-06-07]
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
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Nat Commun 12 (1) 3417 [2021-06-07; online 2021-06-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Low Energy Electron Irradiation Is a Potent Alternative to Gamma Irradiation for the Inactivation of (CAR-)NK-92 Cells in ATMP Manufacturing.
Walcher L, Kistenmacher AK, Sommer C, ..., Dünkel A, Fricke S
Front Immunol 12 (-) 684052 [2021-06-04; online 2021-06-04]
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Atg7 deficiency in microglia drives an altered transcriptomic profile associated with an impaired neuroinflammatory response.
Friess L, Cheray M, Keane L, Grabert K, Joseph B
Mol Brain 14 (1) 87 [2021-06-03; online 2021-06-03]
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RNA atlas of human bacterial pathogens uncovers stress dynamics linked to infection.
Avican K, Aldahdooh J, Togninalli M, ..., Rhen M, Fällman M
Nat Commun 12 (1) 3282 [2021-06-02; online 2021-06-02]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Gene count from target sequence capture places three whole genome duplication events in Hibiscus L. (Malvaceae).
Eriksson JS, Bacon CD, Bennett DJ, ..., Oxelman B, Antonelli A
BMC Ecol Evol 21 (1) 107 [2021-06-02; online 2021-06-02]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Crawford AA, Bankier S, Altmaier E, ..., Walker BR, CORtisol NETwork (CORNET) consortium
J. Hum. Genet. 66 (6) 625-636 [2021-06-00; online 2021-01-20]
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The trans-ancestral genomic architecture of glycemic traits.
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Nat. Genet. 53 (6) 840-860 [2021-06-00; online 2021-05-31]
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RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.
Chen D, Camponeschi A, Nordlund J, ..., Fogelstrand L, Mårtensson IL
Cancer Med 10 (12) 3997-4003 [2021-06-00; online 2021-05-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Methylome and transcriptome signature of bronchoalveolar cells from multiple sclerosis patients in relation to smoking.
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Mult. Scler. 27 (7) 1014-1026 [2021-06-00; online 2020-07-30]
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Genomic and fitness consequences of inbreeding in an endangered carnivore.
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Mol. Ecol. 30 (12) 2790-2799 [2021-06-00; online 2021-05-20]
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Genomic Characterization of the Barnacle Balanus improvisus Reveals Extreme Nucleotide Diversity in Coding Regions.
Alm Rosenblad M, Abramova A, Lind U, ..., Nystedt B, Blomberg A
Mar Biotechnol (NY) 23 (3) 402-416 [2021-06-00; online 2021-05-01]
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Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.
de Las Fuentes L, Sung YJ, Noordam R, ..., Rao DC, Fornage M
Mol. Psychiatry 26 (6) 2111-2125 [2021-06-00; online 2020-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan.
van Dongen J, Hagenbeek FA, Suderman M, ..., Bartels M, Boomsma DI
Mol. Psychiatry 26 (6) 2148-2162 [2021-06-00; online 2021-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genomic basis of parallel adaptation varies with divergence in Arabidopsis and its relatives.
Bohutínská M, Vlček J, Yair S, ..., Slotte T, Kolář F
Proc. Natl. Acad. Sci. U.S.A. 118 (21) - [2021-05-25; online 2021-05-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Divergent clonal differentiation trajectories establish CD8+ memory T cell heterogeneity during acute viral infections in humans.
Mold JE, Modolo L, Hård J, ..., Michaëlsson J, Frisén J
Cell Rep 35 (8) 109174 [2021-05-25; online 2021-05-27]
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A combined approach for single-cell mRNA and intracellular protein expression analysis.
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Commun Biol 4 (1) 624 [2021-05-25; online 2021-05-25]
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Size Variation of the Nonrecombining Region on the Mating-Type Chromosomes in the Fungal Podospora anserina Species Complex.
Hartmann FE, Ament-Velásquez SL, Vogan AA, ..., Silar P, Giraud T
Mol. Biol. Evol. 38 (6) 2475-2492 [2021-05-19; online 2021-02-09]
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Phage Biocontrol of Pseudomonas aeruginosa in Water.
Kauppinen A, Siponen S, Pitkänen T, ..., Torvinen E, Miettinen IT
Viruses 13 (5) 928 [2021-05-17; online 2021-05-17]
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Comprehensive dataset of shotgun metagenomes from oxygen stratified freshwater lakes and ponds.
Buck M, Garcia SL, Fernandez L, ..., Bertilsson S, Peura S
Sci Data 8 (1) 131 [2021-05-14; online 2021-05-14]
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Ultralow amounts of DNA from long-term archived serum samples produce high-quality methylomes.
Wojewodzic MW, Leithaug M, Lauritzen M, ..., Grotmol T, Rounge TB
Clin Epigenetics 13 (1) 107 [2021-05-12; online 2021-05-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Progesterone Dampens Immune Responses in In Vitro Activated CD4+ T Cells and Affects Genes Associated With Autoimmune Diseases That Improve During Pregnancy.
Hellberg S, Raffetseder J, Rundquist O, ..., Ernerudh J, Gustafsson M
Front Immunol 12 (-) 672168 [2021-05-12; online 2021-05-12]
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Freshwater Chlorobia Exhibit Metabolic Specialization among Cosmopolitan and Endemic Populations.
Garcia SL, Mehrshad M, Buck M, ..., Greening C, Peura S
mSystems 6 (3) - [2021-05-11; online 2021-05-11]
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African and Asian leopards are highly differentiated at the genomic level.
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The Genetic Variation of Lactase Persistence Alleles in Sudan and South Sudan.
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Genome Biol Evol 13 (5) - [2021-05-07; online 2021-03-25]
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The Effects of GC-Biased Gene Conversion on Patterns of Genetic Diversity among and across Butterfly Genomes.
Boman J, Mugal CF, Backström N
Genome Biol Evol 13 (5) - [2021-05-07; online 2021-03-25]
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INT-Hi-C reveals distinct chromatin architecture in endosperm and leaf tissues of Arabidopsis.
Yadav VK, Santos-González J, Köhler C
Nucleic Acids Res. 49 (8) 4371-4385 [2021-05-07; online 2021-03-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality.
Schunk SJ, Kleber ME, März W, ..., eQTLGen consortium , BIOS consortium
Eur. Heart J. 42 (18) 1742-1756 [2021-05-07; online 2021-03-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Chromosome Level Assembly of the Comma Butterfly (Polygonia c-album).
Celorio-Mancera MP, Rastas P, Steward RA, Nylin S, Wheat CW
Genome Biol Evol 13 (5) - [2021-05-07; online 2021-03-23]
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How to Make a Rodent Giant: Genomic Basis and Tradeoffs of Gigantism in the Capybara, the World's Largest Rodent.
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Tissue-specific transcriptional imprinting and heterogeneity in human innate lymphoid cells revealed by full-length single-cell RNA-sequencing.
Mazzurana L, Czarnewski P, Jonsson V, ..., Almer S, Mjösberg J
Cell Res 31 (5) 554-568 [2021-05-00; online 2021-01-08]
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The association between genetically determined ABO blood types and major depressive disorder.
Garvert L, Baune BT, Berger K, ..., Grabe HJ, Van der Auwera S
Psychiatry Res 299 (-) 113837 [2021-05-00; online 2021-02-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The Enterprise, a massive transposon carrying Spok meiotic drive genes.
Vogan AA, Ament-Velásquez SL, Bastiaans E, ..., Suh A, Johannesson H
Genome Res. 31 (5) 789-798 [2021-05-00; online 2021-04-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
Ain NU, Baroncelli M, Costantini A, ..., Mäkitie O, Naz S
J. Med. Genet. 58 (5) 351-356 [2021-05-00; online 2020-06-26]
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In vivo screen identifies a SIK inhibitor that induces β cell proliferation through a transient UPR.
Charbord J, Ren L, Sharma RB, ..., Alonso LC, Andersson O
Nat Metab 3 (5) 682-700 [2021-05-00; online 2021-05-20]
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Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
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Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
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Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, ..., UK DNA Lacunar Stroke Study Investigators , International Stroke Genetics Consortium
Lancet Neurol 20 (5) 351-361 [2021-05-00; online 2021-03-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Dual RNA-Seq transcriptome analysis of chicken macrophage-like cells (HD11) infected in vitro with Eimeria tenella.
Sandholt AKS, Xu F, Söderlund R, ..., Svärd SG, Wattrang E
Parasitology 148 (6) 712-725 [2021-05-00; online 2021-02-04]
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Cyanophage Diversity and Community Structure in Dead Zone Sediments.
Broman E, Holmfeldt K, Bonaglia S, Hall POJ, Nascimento FJA
mSphere 6 (2) - [2021-04-28; online 2021-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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An introgressed gene causes meiotic drive in Neurospora sitophila.
Svedberg J, Vogan AA, Rhoades NA, ..., Hammond TM, Johannesson H
Proc. Natl. Acad. Sci. U.S.A. 118 (17) e2026605118 [2021-04-27; online 2021-04-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Middle Pleistocene genome calibrates a revised evolutionary history of extinct cave bears.
Barlow A, Paijmans JLA, Alberti F, ..., Baryshnikov G, Hofreiter M
Curr. Biol. 31 (8) 1771-1779.e7 [2021-04-26; online 2021-02-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations.
von Seth J, Dussex N, Díez-Del-Molino D, ..., Götherström A, Dalén L
Nat Commun 12 (1) 2393 [2021-04-26; online 2021-04-26]
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Functional Diversity Facilitates Stability Under Environmental Changes in an Outdoor Microalgal Cultivation System.
Mattsson L, Sörenson E, Capo E, ..., Lindehoff E, Legrand C
Front Bioeng Biotechnol 9 (-) 651895 [2021-04-22; online 2021-04-22]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Epigenome-wide association study of level and change in cognitive abilities from midlife through late life.
Karlsson IK, Ericsson M, Wang Y, ..., Reynolds CA, Pedersen NL
Clin Epigenetics 13 (1) 85 [2021-04-21; online 2021-04-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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smartPARE: An R Package for Efficient Identification of True mRNA Cleavage Sites.
Persson Hodén K, Hu X, Martinez G, Dixelius C
Int J Mol Sci 22 (8) 4267 [2021-04-20; online 2021-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Active DNRA and denitrification in oxic hypereutrophic waters.
Broman E, Zilius M, Samuiloviene A, ..., Nascimento FJA, Bonaglia S
Water Res. 194 (-) 116954 [2021-04-15; online 2021-02-21]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A spinal organ of proprioception for integrated motor action feedback.
Picton LD, Bertuzzi M, Pallucchi I, ..., Shearing PR, El Manira A
Neuron 109 (7) 1188-1201.e7 [2021-04-07; online 2021-02-11]
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PubMed DOI Crossref
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A, Hoeber J, Schuster J, ..., Klar J, Dahl N
Am. J. Hum. Genet. 108 (4) 739-748 [2021-04-01; online 2021-03-11]
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PubMed DOI Crossref
The heart microbiome of insectivorous bats from Central and South Eastern Europe.
Corduneanu A, Mihalca AD, Sándor AD, ..., Viso NP, Bongcam-Rudloff E
Comp Immunol Microbiol Infect Dis 75 (-) 101605 [2021-04-00; online 2021-01-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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The effects of drift and selection on latitudinal genetic variation in Scandinavian common toads (Bufo bufo) following postglacial recolonisation.
Thörn F, Rödin-Mörch P, Cortazar-Chinarro M, ..., Laurila A, Höglund J
Heredity (Edinb) 126 (4) 656-667 [2021-04-00; online 2021-02-09]
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PubMed DOI Crossref
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Correia SP, Moedas MF, Naess K, ..., Wedell A, Wredenberg A
Hum. Mutat. 42 (4) 378-384 [2021-04-00; online 2021-02-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS.
Abdulla M, Alexsson A, Sundström C, ..., Hollander P, Amini RM
Acta Oncol 60 (4) 531-538 [2021-04-00; online 2021-02-12]
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Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, ..., Wedell A, Wredenberg A
Neurol Genet 7 (2) e566 [2021-04-00; online 2021-03-15]
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Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
Gorski M, Jung B, Li Y, ..., Pattaro C, Heid IM
Kidney Int. 99 (4) 926-939 [2021-04-00; online 2020-10-31]
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Life-Time Covariation of Major Cardiovascular Diseases: A 40-Year Longitudinal Study and Genetic Studies.
Lind L, Sundström J, Ärnlöv J, ..., Lumbers RT, Lampa E
Circ Genom Precis Med 14 (2) e002963 [2021-04-00; online 2021-02-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groups.
Coutinho A, Malmström H, Edlund H, ..., Schlebusch CM, Jakobsson M
Am. J. Phys. Anthropol. 174 (4) 701-713 [2021-04-00; online 2021-02-04]
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski JP, Halvardson J, Davies H, ..., Ryś J, Forsberg LA
Cell. Mol. Life Sci. 78 (8) 4019-4033 [2021-04-00; online 2021-04-10]
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Experimental evidence of microbial inheritance in plants and transmission routes from seed to phyllosphere and root.
Abdelfattah A, Wisniewski M, Schena L, Tack AJM
Environ. Microbiol. 23 (4) 2199-2214 [2021-04-00; online 2021-01-21]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Development of a highly efficient 50K single nucleotide polymorphism genotyping array for the large and complex genome of Norway spruce (Picea abies L. Karst) by whole genome resequencing and its transferability to other spruce species.
Bernhardsson C, Zan Y, Chen Z, Ingvarsson PK, Wu HX
Mol Ecol Resour 21 (3) 880-896 [2021-04-00; online 2020-12-02]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The evolution of ancestral and species-specific adaptations in snowfinches at the Qinghai-Tibet Plateau.
Qu Y, Chen C, Chen X, ..., Zhang YE, Lei F
Proc. Natl. Acad. Sci. U.S.A. 118 (13) e2012398118 [2021-03-30; online 2021-03-24]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Multiple migrations to the Philippines during the last 50,000 years.
Larena M, Sanchez-Quinto F, Sjödin P, ..., Endicott P, Jakobsson M
Proc. Natl. Acad. Sci. U.S.A. 118 (13) - [2021-03-30; online 2021-03-24]
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Estrogen Receptor Beta Influences the Inflammatory p65 Cistrome in Colon Cancer Cells.
Indukuri R, Hases L, Archer A, Williams C
Front Endocrinol (Lausanne) 12 (-) 650625 [2021-03-30; online 2021-03-30]
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Genotyping Strategies Using ddRAD Sequencing in Farmed Arctic Charr (Salvelinus alpinus).
Pappas F, Palaiokostas C
Animals (Basel) 11 (3) - [2021-03-21; online 2021-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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PRDM16 regulates a temporal transcriptional program to promote progression of cortical neural progenitors.
He L, Jones J, He W, ..., Wen J, Dai Q
Development 148 (6) - [2021-03-17; online 2021-03-17]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Reproducible, portable, and efficient ancient genome reconstruction with nf-core/eager.
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PeerJ 9 (-) e10947 [2021-03-16; online 2021-03-16]
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Expansions of adaptive-like NK cells with a tissue-resident phenotype in human lung and blood.
Brownlie D, Scharenberg M, Mold JE, ..., Marquardt N, Michaëlsson J
Proc. Natl. Acad. Sci. U.S.A. 118 (11) e2016580118 [2021-03-16; online 2021-04-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Transcriptional analysis of islets of Langerhans from organ donors of different ages.
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PLoS ONE 16 (3) e0247888 [2021-03-12; online 2021-03-12]
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The Fennoscandian Shield deep terrestrial virosphere suggests slow motion 'boom and burst' cycles.
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Commun Biol 4 (1) 307 [2021-03-08; online 2021-03-08]
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Single cell transcriptomics of primate sensory neurons identifies cell types associated with chronic pain.
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Nat Commun 12 (1) 1510 [2021-03-08; online 2021-03-08]
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Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France.
Seguin-Orlando A, Donat R, Der Sarkissian C, ..., Guilaine J, Orlando L
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NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Sperm Methylome Profiling Can Discern Fertility Levels in the Porcine Biomedical Model.
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Int J Mol Sci 22 (5) 2679 [2021-03-06; online 2021-03-06]
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Effluent solids recirculation to municipal sludge digesters enhances long-chain fatty acids degradation capacity.
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Biotechnol Biofuels 14 (1) 56 [2021-03-04; online 2021-03-04]
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Divergence in Coding Sequence and Expression of Different Functional Categories of Immune Genes between Two Wild Rodent Species.
Zhong X, Lundberg M, Råberg L
Genome Biol Evol 13 (3) - [2021-03-01; online 2021-02-11]
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Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
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Haematologica 106 (3) 682-691 [2021-03-01; online 2021-03-01]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole-genome analyses provide no evidence for dog introgression in Fennoscandian wolf populations.
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Evol Appl 14 (3) 721-734 [2021-03-00; online 2020-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
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Nat. Med. 27 (3) 546-559 [2021-03-00; online 2021-03-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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RNA transcript response by an Acidithiobacillus spp. mixed culture reveals adaptations to growth on arsenopyrite.
Barragán CE, Márquez MA, Dopson M, Montoya D
Extremophiles 25 (2) 143-158 [2021-03-00; online 2021-02-22]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Million-year-old DNA sheds light on the genomic history of mammoths.
van der Valk T, Pečnerová P, Díez-Del-Molino D, ..., Götherström A, Dalén L
Nature 591 (7849) 265-269 [2021-03-00; online 2021-02-17]
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Escherichia coli EC93 deploys two plasmid-encoded class I contact-dependent growth inhibition systems for antagonistic bacterial interactions.
Wäneskog M, Halvorsen T, Filek K, ..., Poole SJ, Koskiniemi S
Microb Genom 7 (3) - [2021-03-00; online 2021-03-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Cyclin A2 localises in the cytoplasm at the S/G2 transition to activate PLK1.
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Life Sci. Alliance 4 (3) e202000980 [2021-03-00; online 2021-01-05]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Abundantly expressed class of noncoding RNAs conserved through the multicellular evolution of dictyostelid social amoebas.
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Genome Res. 31 (3) 436-447 [2021-03-00; online 2021-01-21]
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Chenodeoxycholic Acid Modulates Bile Acid Synthesis Independent of Fibroblast Growth Factor 19 in Primary Human Hepatocytes.
Johansson H, Søndergaard JN, Jorns C, Kutter C, Ellis ECS
Front Endocrinol (Lausanne) 11 (-) 554922 [2021-02-22; online 2021-02-22]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Sheep nemabiome diversity and its response to anthelmintic treatment in Swedish sheep herds.
Halvarsson P, Höglund J
Parasit Vectors 14 (1) 114 [2021-02-18; online 2021-02-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts.
Zaghlool A, Niazi A, Björklund ÅK, ..., Ameur A, Feuk L
Sci Rep 11 (1) 4076 [2021-02-18; online 2021-02-18]
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Comparative Fungal Community Analyses Using Metatranscriptomics and Internal Transcribed Spacer Amplicon Sequencing from Norway Spruce.
Schneider AN, Sundh J, Sundström G, ..., Hurry V, Street NR
mSystems 6 (1) - [2021-02-16; online 2021-02-16]
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Distinct subtypes of proprioceptive dorsal root ganglion neurons regulate adaptive proprioception in mice.
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Nat Commun 12 (1) 1026 [2021-02-15; online 2021-02-15]
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Combined removal of organic micropollutants and ammonium in reactive barriers developed for managed aquifer recharge.
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Water Res. 190 (-) 116669 [2021-02-15; online 2020-11-25]
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Asymmetric introgression reveals the genetic architecture of a plumage trait.
Semenov GA, Linck E, Enbody ED, ..., Andersson L, Taylor SA
Nat Commun 12 (1) 1019 [2021-02-15; online 2021-02-15]
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Temperature Stress Induces Shift From Co-Existence to Competition for Organic Carbon in Microalgae-Bacterial Photobioreactor Community - Enabling Continuous Production of Microalgal Biomass.
Sörenson E, Capo E, Farnelid H, Lindehoff E, Legrand C
Front Microbiol 12 (-) 607601 [2021-02-11; online 2021-02-11]
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A novel canine reference genome resolves genomic architecture and uncovers transcript complexity.
Wang C, Wallerman O, Arendt ML, ..., Meadows JRS, Lindblad-Toh K
Commun Biol 4 (1) 185 [2021-02-10; online 2021-02-10]
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Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets.
Stratmann S, Yones SA, Mayrhofer M, ..., Cavelier L, Holmfeldt L
Blood Adv 5 (3) 900-912 [2021-02-09; online 2021-02-10]
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Halophytophthora fluviatilis Pathogenicity and Distribution along a Mediterranean-Subalpine Gradient.
Caballol M, Štraus D, Macia H, ..., Redondo MÁ, Oliva J
JoF 7 (2) 112 [2021-02-03; online 2021-02-03]
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Genomic Evidence of an Ancient East Asian Divergence Event in Wild Saccharomyces cerevisiae.
Bendixsen DP, Gettle N, Gilchrist C, Zhang Z, Stelkens R
Genome Biol Evol 13 (2) - [2021-02-03; online 2021-01-13]
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The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.
Schober FA, Moore D, Atanassov I, ..., Freyer C, Wredenberg A
Sci Adv 7 (8) - [2021-02-00; online 2021-02-19]
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Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians.
Sjöstrand AE, Sjödin P, Hegay T, ..., Heyer E, Jakobsson M
Eur. J. Hum. Genet. 29 (2) 325-337 [2021-02-00; online 2020-10-01]
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Spatiotemporal dissection of the cell cycle with single-cell proteogenomics.
Mahdessian D, Cesnik AJ, Gnann C, ..., Sullivan DP, Lundberg E
Nature 590 (7847) 649-654 [2021-02-00; online 2021-02-24]
Eukaryotic Single Cell Genomics (ESCG) [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics [Collaborative]
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Small-scale population divergence is driven by local larval environment in a temperate amphibian.
Rödin-Mörch P, Palejowski H, Cortazar-Chinarro M, ..., Höglund J, Laurila A
Heredity (Edinb) 126 (2) 279-292 [2021-02-00; online 2020-09-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Single nucleus transcriptomics data integration recapitulates the major cell types in human liver.
Diamanti K, Inda Díaz JS, Raine A, ..., Wadelius C, Cavalli M
Hepatol Res 51 (2) 233-238 [2021-02-00; online 2020-11-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Root trait-microbial relationships across tundra plant species.
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New Phytol. 229 (3) 1508-1520 [2021-02-00; online 2020-10-30]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Role of H1 and DNA methylation in selective regulation of transposable elements during heat stress.
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New Phytol. 229 (4) 2238-2250 [2021-02-00; online 2020-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Hybrid seed incompatibility in Capsella is connected to chromatin condensation defects in the endosperm.
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PLoS Genet. 17 (2) e1009370 [2021-02-00; online 2021-02-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide single nucleotide polymorphism markers reveal population structure and dispersal direction of an expanding nuisance algal bloom species.
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Mol. Ecol. 30 (4) 912-925 [2021-02-00; online 2021-01-20]
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Comparative genomics highlights the importance of drug efflux transporters during evolution of mycoparasitism in Clonostachys subgenus Bionectria (Fungi, Ascomycota, Hypocreales).
Broberg M, Dubey M, Iqbal M, ..., Brandström Durling M, Karlsson M
Evol Appl 14 (2) 476-497 [2021-02-00; online 2020-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A recently isolated human commensal Escherichia coli ST10 clone member mediates enhanced thermotolerance and tetrathionate respiration on a P1 phage-derived IncY plasmid.
Kamal SM, Cimdins-Ahne A, Lee C, ..., Mogk A, Römling U
Mol. Microbiol. 115 (2) 255-271 [2021-02-00; online 2020-10-12]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Importance of Sex in the Discovery of Colorectal Cancer Prognostic Biomarkers.
Hases L, Ibrahim A, Chen X, ..., Hartman J, Williams C
Int J Mol Sci 22 (3) 1354 [2021-01-29; online 2021-01-29]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
Norin U, Rintisch C, Meng L, ..., Bäckdahl L, Holmdahl R
Nat Commun 12 (1) 610 [2021-01-27; online 2021-01-27]
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Ecological adaptation in European eels is based on phenotypic plasticity.
Enbody ED, Pettersson ME, Sprehn CG, ..., Wickström H, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 118 (4) e2022620118 [2021-01-26; online 2021-01-23]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Divergence and Remarkable Diversity of the Y Chromosome in Guppies.
Almeida P, Sandkam BA, Morris J, ..., Breden F, Mank JE
Mol. Biol. Evol. 38 (2) 619-633 [2021-01-23; online 2020-10-07]
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Genome-wide association study and pathway analysis identify NTRK2 as a novel candidate gene for litter size in sheep.
Esmaeili-Fard SM, Gholizadeh M, Hafezian SH, Abdollahi-Arpanahi R
PLoS ONE 16 (1) e0244408 [2021-01-22; online 2021-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals.
Strawbridge RJ, Johnston KJA, Bailey MES, ..., Sennblad B, Smith DJ
Sci Rep 11 (1) 632 [2021-01-12; online 2021-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA-Metabarcoding of Belowground Fungal Communities in Bare-Root Forest Nurseries: Focus on Different Tree Species.
Marčiulynienė D, Marčiulynas A, Lynikienė J, ..., Gedminas A, Menkis A
Microorganisms 9 (1) - [2021-01-11; online 2021-01-11]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Temporal changes in DNA methylation and RNA expression in a small song bird: within- and between-tissue comparisons.
Lindner M, Verhagen I, Viitaniemi HM, ..., Husby A, van Oers K
BMC Genomics 22 (1) 36 [2021-01-07; online 2021-01-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, ..., Prokopenko I, Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)
Nat Commun 12 (1) 24 [2021-01-05; online 2021-01-05]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Root distribution in intercropping systems – a comparison of DNA based methods and visual distinction of roots
Hassan A, Dresbøll DB, Rasmussen CR, ..., Lund OS, Thorup-Kristensen K
Archives of Agronomy and Soil Science 67 (1) 15-28 [2021-01-02; online 2019-10-16]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Post-treatment of dewatered digested sewage sludge by thermophilic high-solid digestion for pasteurization with positive energy output.
Nordell E, Moestedt J, Österman J, ..., Sun L, Schnürer A
Waste Management 119 (-) 11-21 [2021-01-01; online 2020-10-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
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Mol Genet Genomic Med 9 (1) e1526 [2021-01-00; online 2020-12-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Urbanization is associated with modifications in DNA methylation in a small passerine bird.
Watson H, Powell D, Salmón P, Jacobs A, Isaksson C
Evol Appl 14 (1) 85-98 [2021-01-00; online 2020-11-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Munn-Chernoff MA, Johnson EC, Chou YL, ..., Bulik CM, Agrawal A
Addict Biol 26 (1) e12880 [2021-01-00; online 2020-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.
Khandagale A, Holmlund T, Entesarian M, ..., Nordenskjöld M, Fadeel B
Br. J. Haematol. 192 (1) 200-211 [2021-01-00; online 2020-11-18]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK, Pucholt P, Hultin Rosenberg L, ..., Lindblad-Toh K, Rönnblom L
Ann. Rheum. Dis. 80 (1) 109-117 [2021-01-00; online 2020-10-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Identifying the causes and consequences of assembly gaps using a multiplatform genome assembly of a bird-of-paradise.
Peona V, Blom MPK, Xu L, ..., Irestedt M, Suh A
Mol Ecol Resour 21 (1) 263-286 [2021-01-00; online 2020-10-10]
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Human population dynamics and Yersinia pestis in ancient northeast Asia.
Kılınç GM, Kashuba N, Koptekin D, ..., Storå J, Götherström A
Sci Adv 7 (2) - [2021-01-00; online 2021-01-06]
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PubMed DOI Crossref
Host plant diet affects growth and induces altered gene expression and microbiome composition in the wood white (Leptidea sinapis) butterfly.
Näsvall K, Wiklund C, Mrazek V, ..., Vila R, Backström N
Mol. Ecol. 30 (2) 499-516 [2021-01-00; online 2020-12-14]
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PubMed DOI Crossref
Evaluating totipotency using criteria of increasing stringency.
Posfai E, Schell JP, Janiszewski A, ..., Lanner F, Rossant J
Nat Cell Biol 23 (1) 49-60 [2021-01-00; online 2021-01-08]
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PubMed DOI Crossref
Epigenome-wide cross-tissue correlation of human bone and blood DNA methylation - can blood be used as a surrogate for bone?
Ebrahimi P, Luthman H, McGuigan FE, Akesson KE
Epigenetics 16 (1) 92-105 [2021-01-00; online 2020-07-21]
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Diversification of molecularly defined myenteric neuron classes revealed by single-cell RNA sequencing.
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Nat. Neurosci. 24 (1) 34-46 [2021-01-00; online 2020-12-07]
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Crown‐fire severity is more important than ground‐fire severity in determining soil fungal community development in the boreal forest
Pérez‐Izquierdo L, Clemmensen KE, Strengbom J, ..., Nilsson M, Lindahl BD
J Ecol 109 (1) 504-518 [2021-01-00; online 2020-11-00]
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Year 2020

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Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.
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Sci Rep 10 (1) 22436 [2020-12-31; online 2020-12-31]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens.
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Novakazi F, Krusell L, Jensen J, ..., Bengtsson T, None
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Hodgkin Lymphoma Monozygotic Triplets Reveal Divergences in DNA Methylation Signatures.
Xia C, Olsen TK, Zirakzadeh AA, ..., Björkholm M, Strååt K
Front Oncol 10 (-) 598872 [2020-12-09; online 2020-12-09]
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BMP signaling is a therapeutic target in ovarian cancer.
Fukuda T, Fukuda R, Tanabe R, ..., Miyazono K, Heldin CH
Cell Death Discov 6 (1) 139 [2020-12-05; online 2020-12-05]
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Moose genomes reveal past glacial demography and the origin of modern lineages.
Dussex N, Alberti F, Heino MT, ..., Dalén L, Díez-Del-Molino D
BMC Genomics 21 (1) 854 [2020-12-02; online 2020-12-02]
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A shotgun metagenomic investigation of the microbiota of udder cleft dermatitis in comparison to healthy skin in dairy cows.
Ekman L, Bagge E, Nyman A, ..., Pringle M, Segerman B
PLoS ONE 15 (12) e0242880 [2020-12-02; online 2020-12-02]
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
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Genome Biol. 21 (1) 290 [2020-12-01; online 2020-12-01]
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Tissue-specific patterns of regulatory changes underlying gene expression differences among Ficedula flycatchers and their naturally occurring F1 hybrids.
Mugal CF, Wang M, Backström N, ..., Qvarnström A, Ellegren H
Genome Res. 30 (12) 1727-1739 [2020-12-00; online 2020-11-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sawangproh W, Lang AS, Hedenäs L, Cronberg N
Org Divers Evol 20 (4) 619-637 [2020-12-00; online 2020-09-07]
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Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
Rasmussen ER, Hallberg P, Baranova EV, ..., Palmer CNA, Wadelius M
Pharmacogenomics J. 20 (6) 770-783 [2020-12-00; online 2020-02-21]
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Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Yaghootkar H, Zhang Y, Spracklen CN, ..., Loos RJF, Kilpeläinen TO
Diabetes 69 (12) 2806-2818 [2020-12-00; online 2020-09-11]
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Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.
van Zuydam NR, Ladenvall C, Voight BF, ..., Palmer CNA, SUMMIT Steering Committee; CARDIOGRAMplusC4D Steering Committee*
Circ Genom Precis Med 13 (6) e002769 [2020-12-00; online 2020-08-13]
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Features of increased malignancy in eosinophilic clear cell renal cell carcinoma.
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J. Pathol. 252 (4) 384-397 [2020-12-00; online 2020-09-24]
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Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.
Maroteau C, Siddiqui MK, Veluchamy A, ..., Palmer CNA, PREDICTION-ADR
Clin. Pharmacol. Ther. 108 (6) 1195-1202 [2020-12-00; online 2020-07-18]
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Vetukuri RR, Kalyandurg PB, Saripella GV, ..., Grenville-Briggs LJ, Savenkov EI
Arch Virol 165 (12) 2953-2959 [2020-12-00; online 2020-10-10]
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Surendran P, Feofanova EV, Lahrouchi N, ..., Munroe PB, Howson JMM
Nat. Genet. 52 (12) 1314-1332 [2020-12-00; online 2020-11-23]
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Deep sequencing detects human papillomavirus (HPV) in cervical cancers negative for HPV by PCR.
Arroyo Mühr LS, Lagheden C, Lei J, ..., Sundström K, Dillner J
Br. J. Cancer 123 (12) 1790-1795 [2020-12-00; online 2020-10-06]
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CRISPR and Long-Read Sequencing: A Perfect Match.
Ameur A
CRISPR J 3 (6) 425-427 [2020-12-00; online 2020-11-30]
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A genome-wide association study revealed five SNPs affecting 8-month weight in sheep.
Pasandideh M, Gholizadeh M, Rahimi-Mianji G
Anim Genet 51 (6) 973-976 [2020-12-00; online 2020-09-10]
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Fatima N, Petri A, Gyllensten U, Feuk L, Ameur A
Genes 11 (12) 1444 [2020-11-30; online 2020-11-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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Competitive mapping allows for the identification and exclusion of human DNA contamination in ancient faunal genomic datasets.
Feuerborn TR, Palkopoulou E, van der Valk T, ..., Dalén L, Díez-Del-Molino D
BMC Genomics 21 (1) 844 [2020-11-30; online 2020-11-30]
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Immobilization of sulfate and thiosulfate-reducing biomass on sand under haloalkaline conditions.
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Genome-wide identification of Argonautes in Solanaceae with emphasis on potato.
Liao Z, Hodén KP, Singh RK, Dixelius C
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Nat Commun 11 (1) 5860 [2020-11-17; online 2020-11-17]
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BMC Genomics 21 (1) 796 [2020-11-16; online 2020-11-16]
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Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.
Watanabe A, Miyake K, Nordlund J, ..., Sugita K, Inukai T
Blood 136 (20) 2319-2333 [2020-11-12; online 2020-06-24]
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Mahmud AKMF, Nilsson K, Fahlgren A, ..., Avican K, Fällman M
mSystems 5 (6) - [2020-11-10; online 2020-11-10]
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Sci Rep 10 (1) 19304 [2020-11-09; online 2020-11-09]
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Truvé K, Parris TZ, Vizlin-Hodzic D, ..., Ågren H, Funa K
Transl Psychiatry 10 (1) 390 [2020-11-09; online 2020-11-09]
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Ozerov MY, Flajšhans M, Noreikiene K, Vasemägi A, Gross R
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Evolution from adherent to suspension: systems biology of HEK293 cell line development.
Malm M, Saghaleyni R, Lundqvist M, ..., Nielsen J, Rockberg J
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Naming the untouchable - environmental sequences and niche partitioning as taxonomical evidence in fungi.
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From Inquilines to Gall Inducers: Genomic Signature of a Life-Style Transition in Synergus Gall Wasps.
Gobbo E, Lartillot N, Hearn J, ..., Ide T, Ronquist F
Genome Biol Evol 12 (11) 2060-2073 [2020-11-03; online 2020-09-29]
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Putative Epigenetic Biomarkers of Stress in Red Blood Cells of Chickens Reared Across Different Biomes.
Pértille F, Ibelli AMG, Sharif ME, ..., Guerrero-Bosagna C, Coutinho LL
Front Genet 11 (-) 508809 [2020-11-02; online 2020-11-02]
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Pericyte dysfunction due to Shb gene deficiency increases B16F10 melanoma lung metastasis.
He Q, Li X, He L, ..., Betsholtz C, Welsh M
Int. J. Cancer 147 (9) 2634-2644 [2020-11-01; online 2020-05-30]
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Moodley Y, Westbury MV, Russo IM, ..., Dalén L, Bruford MW
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Wallentin L, Lindbäck J, Eriksson N, ..., Oldgren J, Siegbahn A
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The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome.
Duran-Ferrer M, Clot G, Nadeu F, ..., Campo E, Martín-Subero JI
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Sahelian pastoralism from the perspective of variants associated with lactase persistence.
Priehodová E, Austerlitz F, Čížková M, ..., Schlebusch CM, Černý V
Am. J. Phys. Anthropol. 173 (3) 423-436 [2020-11-00; online 2020-08-19]
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Optimized metabarcoding with Pacific biosciences enables semi-quantitative analysis of fungal communities.
Castaño C, Berlin A, Brandström Durling M, ..., Clemmensen KE, Olson Å
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Leaf shape in Populus tremula is a complex, omnigenic trait.
Mähler N, Schiffthaler B, Robinson KM, ..., Hvidsten TR, Street NR
Ecol Evol 10 (21) 11922-11940 [2020-11-00; online 2020-10-13]
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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J, Proven M, Halvardson J, ..., Thuresson AC, Fu D
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Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Soil Biology and Biochemistry 150 (-) 108010 [2020-11-00; online 2020-11-00]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Dense sampling of bird diversity increases power of comparative genomics.
Feng S, Stiller J, Deng Y, ..., Paten B, Zhang G
Nature 587 (7833) 252-257 [2020-11-00; online 2020-11-11]
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Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Bankvall M, Östman S, Jontell M, Torinsson Naluai Å
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Origins and genetic legacy of prehistoric dogs.
Bergström A, Frantz L, Schmidt R, ..., Larson G, Skoglund P
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Intra-Individual Behavioural Variability: A Trait under Genetic Control.
Henriksen R, Höglund A, Fogelholm J, ..., Dingemanse NJ, Wright D
Int J Mol Sci 21 (21) 8069 [2020-10-29; online 2020-10-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Horizontal Gene Transfer and Tandem Duplication Shape the Unique CAZyme Complement of the Mycoparasitic Oomycetes Pythium oligandrum and Pythium periplocum.
Liang D, Andersen CB, Vetukuri RR, Dou D, Grenville-Briggs LJ
Front Microbiol 11 (-) 581698 [2020-10-29; online 2020-10-29]
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DNA methylation in canine brains is related to domestication and dog-breed formation.
Sundman AS, Pértille F, Lehmann Coutinho L, ..., Guerrero-Bosagna C, Jensen P
PLoS ONE 15 (10) e0240787 [2020-10-29; online 2020-10-29]
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Microbiomes in a manganese oxide producing ecosystem in the Ytterby mine, Sweden: impact on metal mobility.
Sjöberg S, Stairs CW, Allard B, ..., Ettema TJG, Dupraz C
FEMS Microbiol. Ecol. 96 (11) - [2020-10-28; online 2020-08-21]
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Population genomics reveals lack of greater white-fronted introgression into the Swedish lesser white-fronted goose.
Díez-Del-Molino D, von Seth J, Gyllenstrand N, ..., Sjögren-Gulve P, Dalén L
Sci Rep 10 (1) 18347 [2020-10-27; online 2020-10-27]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Polycomb Repressive Complex 2-mediated histone modification H3K27me3 is associated with embryogenic potential in Norway spruce.
Nakamura M, Batista RA, Köhler C, Hennig L
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Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study.
Castaldo L, Laguzzi F, Strawbridge RJ, ..., Mälarstig A, Gigante B
Genes 11 (11) 1243 [2020-10-22; online 2020-10-22]
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Fulvestrant-Mediated Attenuation of the Innate Immune Response Decreases ER+ Breast Cancer Growth In Vivo More Effectively than Tamoxifen.
Abrahamsson A, Rodriguez GV, Dabrosin C
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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Am. J. Med. Genet. A - (-) - [2020-10-13; online 2020-10-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Temporal changes in the vaginal microbiota in self-samples and its association with persistent HPV16 infection and CIN2.
Berggrund M, Gustavsson I, Aarnio R, ..., Olovsson M, Gyllensten U
Virol J 17 (1) 147 [2020-10-07; online 2020-10-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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GeneSetCluster: a tool for summarizing and integrating gene-set analysis results.
Ewing E, Planell-Picola N, Jagodic M, Gomez-Cabrero D
BMC Bioinformatics 21 (1) 443 [2020-10-07; online 2020-10-07]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Transcriptional responses in developing lesions of European common ash (Fraxinus excelsior) reveal genes responding to infection by Hymenoscyphus fraxineus.
Sahraei SE, Cleary M, Stenlid J, Brandström Durling M, Elfstrand M
BMC Plant Biol. 20 (1) 455 [2020-10-06; online 2020-10-06]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Pre-extinction Demographic Stability and Genomic Signatures of Adaptation in the Woolly Rhinoceros.
Lord E, Dussex N, Kierczak M, ..., Götherström A, Dalén L
Curr. Biol. 30 (19) 3871-3879.e7 [2020-10-05; online 2020-08-13]
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Notch activation in the mouse mammary luminal lineage leads to ductal hyperplasia and altered partitioning of luminal cell subtypes.
Phoon YP, Chivukula IV, Tsoi YL, ..., Kuiper R, Lendahl U
Exp. Cell Res. 395 (1) 112156 [2020-10-01; online 2020-07-22]
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Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.
Schlebusch CM, Sjödin P, Breton G, ..., Soodyall H, Jakobsson M
Mol. Biol. Evol. 37 (10) 2944-2954 [2020-10-01; online 2020-07-23]
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Genome Biol Evol 12 (10) 1918-1928 [2020-10-01; online 2020-08-25]
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Cauz-Santos LA, da Costa ZP, Callot C, ..., van den Berg C, Vieira MLC
Genome Biol Evol 12 (10) 1841-1857 [2020-10-01; online 2020-07-30]
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Metagenomic analysis of bacteria in stallion semen.
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Animal Reproduction Science 221 (-) 106568 [2020-10-00; online 2020-08-01]
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Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
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PLoS Genet. 16 (10) e1009199 [2020-10-00; online 2020-10-26]
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High-fat diet and estrogen impacts the colon and its transcriptome in a sex-dependent manner.
Hases L, Archer A, Indukuri R, ..., Korach-André M, Williams C
Sci Rep 10 (1) 16160 [2020-09-30; online 2020-09-30]
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Yavuz S, Bianchi M, Kozyrev S, ..., Lindblad-Toh K, Rönnblom L
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Streamlined and Abundant Bacterioplankton Thrive in Functional Cohorts.
Mondav R, Bertilsson S, Buck M, ..., Lindström ES, Garcia SL
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Rafati N, Chen J, Herpin A, ..., Schartl M, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 117 (39) 24359-24368 [2020-09-29; online 2020-09-16]
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Labile Dissolved Organic Matter Compound Characteristics Select for Divergence in Marine Bacterial Activity and Transcription.
Pontiller B, Martínez-García S, Lundin D, Pinhassi J
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Generation of Sequencing Libraries for Structural Analysis of Bacterial 5' UTRs.
Ignatov D, Vaitkevicius K, Johansson J
STAR Protoc 1 (2) 100046 [2020-09-18; online 2020-06-06]
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Microorganisms 8 (9) 1394 [2020-09-11; online 2020-09-11]
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Sci Rep 10 (1) 14977 [2020-09-11; online 2020-09-11]
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A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.
Svensson D, Rentoft M, Dahlin AM, ..., Trygg J, Johansson E
PLoS ONE 15 (9) e0237721 [2020-09-11; online 2020-09-11]
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Uneklint I, Öhrman C, Karlsson L, ..., Forsman M, Sjödin A
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FEMS Microbiol. Ecol. 96 (9) - [2020-09-01; online 2020-08-09]
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Syst. Biol. 69 (5) 820-829 [2020-09-01; online 2020-05-18]
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Mutations Upstream of the TBX5 and PITX1 Transcription Factor Genes Are Associated with Feathered Legs in the Domestic Chicken.
Li J, Lee M, Davis BW, ..., Siegel PB, Andersson L
Mol. Biol. Evol. 37 (9) 2477-2486 [2020-09-01; online 2020-04-29]
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Madsen EB, Höijer I, Kvist T, Ameur A, Mikkelsen MJ
Hum. Mutat. 41 (9) 1671-1679 [2020-09-00; online 2020-06-29]
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Mkrtchian S, Kåhlin J, Gómez-Galán M, ..., Erlandsson Harris H, Eriksson LI
Exp. Physiol. 105 (9) 1634-1647 [2020-09-00; online 2020-07-24]
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Linked-read sequencing enables haplotype-resolved resequencing at population scale.
Lutgen D, Ritter R, Olsen RA, ..., Suh A, Burri R
Mol Ecol Resour 20 (5) 1311-1322 [2020-09-00; online 2020-06-29]
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Mol Ecol Resour 20 (5) 1171-1181 [2020-09-00; online 2019-05-05]
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Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.
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Am. J. Med. Genet. B Neuropsychiatr. Genet. 183 (6) 309-330 [2020-09-00; online 2020-07-18]
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Lung Cancer 147 (-) 106-114 [2020-09-00; online 2020-07-12]
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DNA methylation variation in the brain of laying hens in relation to differential behavioral patterns.
Guerrero-Bosagna C, Pértille F, Gomez Y, ..., Voelkl B, Toscano MJ
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Comparative analysis of genome-wide DNA methylation in Neurospora.
Hosseini S, Meunier C, Nguyen D, Reimegård J, Johannesson H
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A Shh/Gli-driven three-node timer motif controls temporal identity and fate of neural stem cells.
Dias JM, Alekseenko Z, Jeggari A, ..., Iber D, Ericson J
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Four SARS-CoV-2 Genome Sequences from Late April in Stockholm, Sweden, Reveal a Rare Mutation in the Spike Protein.
Soratto TAT, Darban H, Bjerkner A, ..., Allander T, Andersson B
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Whole-genome sequencing and gene network modules predict gemcitabine/carboplatin-induced myelosuppression in non-small cell lung cancer patients.
Björn N, Badam TVS, Spalinskas R, ..., Gustafsson M, Gréen H
npj Syst Biol Appl 6 (1) 25 [2020-08-24; online 2020-08-24]
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Rapid size change associated with intra-island evolutionary radiation in extinct Caribbean "island-shrews".
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High Cysteine Membrane Proteins (HCMPs) Are Up-Regulated During Giardia-Host Cell Interactions.
Peirasmaki D, Ma'ayeh SY, Xu F, ..., Liu J, Svärd SG
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Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.
Poveda A, Atabaki-Pasdar N, Ahmad S, ..., Renström F, Franks PW
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Carlström KE, Zhu K, Ewing E, ..., Castelo-Branco G, Piehl F
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Transcriptional mutagenesis dramatically alters genome-wide p53 transactivation landscape.
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Association of Factor V Leiden With Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data.
Mahmoodi BK, Tragante V, Kleber ME, ..., Asselbergs FW, Patel RS
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Floudas D, Bentzer J, Ahrén D, ..., Persson P, Tunlid A
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Forest Ecology and Management 469 (-) 118199 [2020-08-00; online 2020-08-00]
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The importance of the ZBED6-IGF2 axis for metabolic regulation in mouse myoblast cells.
Younis S, Naboulsi R, Wang X, ..., Welsh N, Andersson L
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The compact genome of Giardia muris reveals important steps in the evolution of intestinal protozoan parasites.
Xu F, Jiménez-González A, Einarsson E, ..., Svärd SG, Jerlström-Hultqvist J
Microb Genom 6 (8) - [2020-08-00; online 2020-07-03]
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The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders.
Coutinho A, Günther T, Munters AR, ..., Malmström H, Jakobsson M
Am. J. Phys. Anthropol. 172 (4) 638-649 [2020-08-00; online 2020-06-04]
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SWEDEGENE-a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions.
Hallberg P, Yue QY, Eliasson E, ..., Ås J, Wadelius M
Pharmacogenomics J. 20 (4) 579-585 [2020-08-00; online 2020-01-17]
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Recent introgression between Taiga Bean Goose and Tundra Bean Goose results in a largely homogeneous landscape of genetic differentiation.
Ottenburghs J, Honka J, Müskens GJDM, Ellegren H
Heredity (Edinb) 125 (1-2) 73-84 [2020-08-00; online 2020-05-26]
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Petrus-Reurer S, Kumar P, Padrell Sánchez S, ..., Kvanta A, Lanner F
Stem Cells Transl Med 9 (8) 936-953 [2020-08-00; online 2020-04-22]
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Trell K, Jörgensen J, Rasmussen M, Senneby E
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Joint impact of common risk factors on incident dementia: A cohort study of the Swedish Twin Registry.
Tomata Y, Li X, Karlsson IK, ..., Pedersen NL, Hägg S
J. Intern. Med. 288 (2) 234-247 [2020-08-00; online 2020-05-03]
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Higher host plant specialization of root-associated endophytes than mycorrhizal fungi along an arctic elevational gradient.
Abrego N, Huotari T, Tack AJM, ..., Ovaskainen O, Roslin T
Ecol Evol 10 (16) 8989-9002 [2020-08-00; online 2020-08-06]
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Wille M, Wensman JJ, Larsson S, ..., Hayer J, Malmberg M
Infection, Genetics and Evolution 82 (-) 104290 [2020-08-00; online 2020-03-20]
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Determinants of genetic variation across eco-evolutionary scales in pinnipeds.
Peart CR, Tusso S, Pophaly SD, ..., Shafer ABA, Wolf JBW
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Juottonen H, Fontaine L, Wurzbacher C, ..., Peura S, Eiler A
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Reynolds CA, Tan Q, Munoz E, ..., Hägg S, Pedersen NL
Aging Cell 19 (8) e13197 [2020-08-00; online 2020-07-24]
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Oliva-Vilarnau N, Vorrink SU, Ingelman-Sundberg M, Lauschke VM
Adv Sci (Weinh) 7 (15) 2000248 [2020-08-00; online 2020-06-23]
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Höglund A, Strempfl K, Fogelholm J, Wright D, Henriksen R
BMC Genomics 21 (1) 518 [2020-07-29; online 2020-07-29]
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Combining transcriptomics and genetic linkage based information to identify candidate genes associated with Heterobasidion-resistance in Norway spruce.
Chaudhary R, Lundén K, Dalman K, ..., Stenlid J, Elfstrand M
Sci Rep 10 (1) 12711 [2020-07-29; online 2020-07-29]
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Early Pleistocene origin and extensive intra-species diversity of the extinct cave lion.
Stanton DWG, Alberti F, Plotnikov V, ..., Skoglund P, Dalén L
Sci Rep 10 (1) 12621 [2020-07-28; online 2020-07-28]
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Multimodal Analysis of Composition and Spatial Architecture in Human Squamous Cell Carcinoma.
Ji AL, Rubin AJ, Thrane K, ..., Lundeberg J, Khavari PA
Cell 182 (2) 497-514.e22 [2020-07-23; online 2020-06-23]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
von der Heyde B, Emmanouilidou A, Mazzaferro E, ..., Brooke HL, den Hoed M
Sci Rep 10 (1) 11831 [2020-07-16; online 2020-07-16]
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Seamless integration of image and molecular analysis for spatial transcriptomics workflows.
Bergenstråhle J, Larsson L, Lundeberg J
BMC Genomics 21 (1) 482 [2020-07-14; online 2020-07-14]
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Transcriptional responses in Parascaris univalens after in vitro exposure to ivermectin, pyrantel citrate and thiabendazole.
Martin F, Dube F, Karlsson Lindsjö O, ..., Bergström TF, Tydén E
Parasit Vectors 13 (1) 342 [2020-07-09; online 2020-07-09]
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Disturbance history can increase functional stability in the face of both repeated disturbances of the same type and novel disturbances.
Renes SE, Sjöstedt J, Fetzer I, Langenheder S
Sci Rep 10 (1) 11333 [2020-07-09; online 2020-07-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Systems biology of acidophile biofilms for efficient metal extraction.
Buetti-Dinh A, Herold M, Christel S, ..., Pivkin IV, Dopson M
Sci Data 7 (1) 215 [2020-07-07; online 2020-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Low Abundance of Methanotrophs in Sediments of Shallow Boreal Coastal Zones With High Water Methane Concentrations.
Broman E, Sun X, Stranne C, ..., Humborg C, Nascimento FJA
Front Microbiol 11 (-) 1536 [2020-07-07; online 2020-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Discovery and population genomics of structural variation in a songbird genus.
Weissensteiner MH, Bunikis I, Catalán A, ..., Warmuth VM, Wolf JBW
Nat Commun 11 (1) 3403 [2020-07-07; online 2020-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
Clin Epigenetics 12 (1) 99 [2020-07-02; online 2020-07-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Y-Chromosome Variation in Southern African Khoe-San Populations Based on Whole-Genome Sequences.
Naidoo T, Xu J, Vicente M, ..., Jakobsson M, Schlebusch CM
Genome Biol Evol 12 (7) 1031-1039 [2020-07-01; online 2020-07-23]
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Genetic Associations Between Childhood Psychopathology and Adult Depression and Associated Traits in 42 998 Individuals: A Meta-analysis.
Akingbuwa WA, Hammerschlag AR, Jami ES, ..., Middeldorp CM, Bipolar Disorder and Major Depressive Disorder Working Groups of the Psychiatric Genomics Consortium
JAMA Psychiatry 77 (7) 715-728 [2020-07-01; online 2020-04-16]
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Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin.
Tengvall K, Bergvall K, Olsson M, ..., Lindblad-Toh K, Andersson G
Immunogenetics 72 (5) 315-323 [2020-07-00; online 2020-06-18]
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Pre- and postnatal Lactobacillus reuteri treatment alters DNA methylation of infant T helper cells.
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Pediatr Allergy Immunol 31 (5) 544-553 [2020-07-00; online 2020-04-03]
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Odorant receptor phylogeny confirms conserved channels for sex pheromone and host plant signals in tortricid moths.
Gonzalez F, Borrero-Echeverry F, Jósvai JK, ..., Bengtsson M, Walker WB
Ecol Evol 10 (14) 7334-7348 [2020-07-00; online 2020-06-30]
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Meiofauna improve oxygenation and accelerate sulfide removal in the seasonally hypoxic seabed.
Bonaglia S, Hedberg J, Marzocchi U, ..., Glud RN, Nascimento FJA
Mar Environ Res 159 (-) 104968 [2020-07-00; online 2020-03-29]
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Identifying the ‘unidentified’ fungi: a global-scale long-read third-generation sequencing approach
Tedersoo L, Anslan S, Bahram M, Kõljalg U, Abarenkov K
Fungal Diversity 103 (1) 273-293 [2020-07-00; online 2020-08-08]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Growth-Inhibitory Activity of Bone Morphogenetic Protein 4 in Human Glioblastoma Cell Lines Is Heterogeneous and Dependent on Reduced SOX2 Expression.
Dalmo E, Johansson P, Niklasson M, ..., Nelander S, Westermark B
Mol Cancer Res 18 (7) 981-991 [2020-07-00; online 2020-03-31]
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Gastric Microbiota in a Low-Helicobacter pylori Prevalence General Population and Their Associations With Gastric Lesions.
Ndegwa N, Ploner A, Andersson AF, ..., Agreus L, Ye W
Clin Transl Gastroenterol 11 (7) e00191 [2020-07-00; online 2020-08-09]
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Female-biased gene flow between two species of Darwin's finches.
Lamichhaney S, Han F, Webster MT, ..., Grant PR, Andersson L
Nat Ecol Evol 4 (7) 979-986 [2020-07-00; online 2020-05-04]
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DNA demethylation regulates gene expression in IgE-activated mouse mast cells.
Paivandy A, Grujic M, Rafati N, Pejler G
Allergy 75 (7) 1776-1780 [2020-07-00; online 2020-02-12]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Comparison of spleen transcriptomes of two wild rodent species reveals differences in the immune response against Borrelia afzelii.
Zhong X, Lundberg M, Råberg L
Ecol Evol 10 (13) 6421-6434 [2020-07-00; online 2020-05-25]
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Accounting for environmental variation in co-occurrence modelling reveals the importance of positive interactions in root-associated fungal communities.
Abrego N, Roslin T, Huotari T, ..., Schmidt NM, Ovaskainen O
Mol. Ecol. 29 (14) 2736-2746 [2020-07-00; online 2020-07-04]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion.
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BMC Biol. 18 (1) 78 [2020-06-30; online 2020-06-30]
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An efficient single-cell transcriptomics workflow for microbial eukaryotes benchmarked on Giardia intestinalis cells.
Onsbring H, Tice AK, Barton BT, Brown MW, Ettema TJG
BMC Genomics 21 (1) 448 [2020-06-29; online 2020-06-29]
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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
Klar J, Engstrand-Lilja H, Maqbool K, ..., Feuk L, Dahl N
BMC Med Genomics 13 (1) 85 [2020-06-26; online 2020-06-26]
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Evolutionary History of the Marchantia polymorpha Complex.
Linde AM, Sawangproh W, Cronberg N, Szövényi P, Lagercrantz U
Front Plant Sci 11 (-) 829 [2020-06-26; online 2020-06-26]
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CAM-Delam: an in vivo approach to visualize and quantify the delamination and invasion capacity of human cancer cells.
Palaniappan TK, Šlekienė L, Jonasson AK, Gilthorpe J, Gunhaga L
Sci Rep 10 (1) 10472 [2020-06-26; online 2020-06-26]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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RNA-seq reveals altered gene expression levels in proximal tubular cell cultures compared to renal cortex but not during early glucotoxicity.
Nilsson LM, Castresana-Aguirre M, Scott L, Brismar H
Sci Rep 10 (1) 10390 [2020-06-25; online 2020-06-25]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Skeletal Muscle Transcriptomic Comparison between Long-Term Trained and Untrained Men and Women.
Chapman MA, Arif M, Emanuelsson EB, ..., Mardinoglu A, Sundberg CJ
Cell Rep 31 (12) 107808 [2020-06-23; online 2020-06-25]
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Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers.
Remnestål J, Öijerstedt L, Ullgren A, ..., Graff C, Nilsson P
Transl Neurodegener 9 (1) 27 [2020-06-23; online 2020-06-23]
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Removal of H2Aub1 by ubiquitin-specific proteases 12 and 13 is required for stable Polycomb-mediated gene repression in Arabidopsis.
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Genome Biol. 21 (1) 144 [2020-06-16; online 2020-06-16]
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Illuminating Genetic Mysteries of the Dead Sea Scrolls.
Anava S, Neuhof M, Gingold H, ..., Jakobsson M, Rechavi O
Cell 181 (6) 1218-1231.e27 [2020-06-11; online 2020-06-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
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Genome Biol. 21 (1) 127 [2020-06-09; online 2020-06-09]
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CYCLIN-B1/2 and -D1 act in opposition to coordinate cortical progenitor self-renewal and lineage commitment.
Hagey DW, Topcic D, Kee N, ..., Perlmann T, Muhr J
Nat Commun 11 (1) 2898 [2020-06-09; online 2020-06-09]
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The regulation and pharmacological modulation of immune complex induced type III IFN production by plasmacytoid dendritic cells.
Hjorton K, Hagberg N, Pucholt P, Eloranta ML, Rönnblom L
Arthritis Res. Ther. 22 (1) 130 [2020-06-05; online 2020-06-05]
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LPS-treatment of bovine endometrial epithelial cells causes differential DNA methylation of genes associated with inflammation and endometrial function.
Jhamat N, Niazi A, Guo Y, ..., Andersson G, Humblot P
BMC Genomics 21 (1) 385 [2020-06-03; online 2020-06-03]
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Vegetation type determines spore deposition within a forest-agricultural mosaic landscape.
Redondo MA, Berlin A, Boberg J, Oliva J
FEMS Microbiol. Ecol. 96 (6) - [2020-06-01; online 2020-05-02]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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The mating type system of the rare polypore Hapalopilus croceus
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Fungal Ecology 45 (-) 100941 [2020-06-00; online 2020-06-00]
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Size-Dependent Pulmonary Impact of Thin Graphene Oxide Sheets in Mice: Toward Safe-by-Design.
Rodrigues AF, Newman L, Jasim D, ..., Kostarelos K, Bussy C
Adv Sci (Weinh) 7 (12) 1903200 [2020-06-00; online 2020-05-07]
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Single-cell RNA counting at allele and isoform resolution using Smart-seq3.
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Nat. Biotechnol. 38 (6) 708-714 [2020-06-00; online 2020-05-04]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Normal Testosterone but Higher Luteinizing Hormone Plasma Levels in Men With Hypersexual Disorder.
Chatzittofis A, Boström AE, Öberg KG, ..., Arver S, Jokinen J
Sex Med 8 (2) 243-250 [2020-06-00; online 2020-03-12]
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Mitochondrial genomes from Bronze Age Poland reveal genetic continuity from the Late Neolithic and additional genetic affinities with the steppe populations.
Juras A, Makarowicz P, Chyleński M, ..., Jakobsson M, Dabert M
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Genome-wide CRISPR screen identifies ZIC2 as an essential gene that controls the cell fate of early mesodermal precursors to human heart progenitors.
Xu J, Zhou C, Foo KS, ..., Sahara M, Chien KR
Stem Cells 38 (6) 741-755 [2020-06-00; online 2020-03-10]
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Benchmarking single-cell RNA-sequencing protocols for cell atlas projects.
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Nat. Biotechnol. 38 (6) 747-755 [2020-06-00; online 2020-04-06]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Balancing selection in Pattern Recognition Receptor signalling pathways is associated with gene function and pleiotropy in a wild rodent.
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Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
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PLoS Genet. 16 (6) e1008725 [2020-06-00; online 2020-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Activated carbon stimulates microbial diversity and PAH biodegradation under anaerobic conditions in oil-polluted sediments.
Bonaglia S, Broman E, Brindefalk B, ..., Udekwu K, Gunnarsson JS
Chemosphere 248 (-) 126023 [2020-06-00; online 2020-01-24]
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Restoration of KMT2C/MLL3 in human colorectal cancer cells reinforces genome-wide H3K4me1 profiles and influences cell growth and gene expression.
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Clin Epigenetics 12 (1) 74 [2020-05-29; online 2020-05-29]
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Transitions in wheat endosperm metabolism upon transcriptional induction of oil accumulation by oat endosperm WRINKLED1.
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BMC Plant Biol. 20 (1) 235 [2020-05-25; online 2020-05-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Ntalla I, Weng LC, Cartwright JH, ..., Lubitz SA, Munroe PB
Nat Commun 11 (1) 2542 [2020-05-21; online 2020-05-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Myocardial micro-biopsy procedure for molecular characterization with increased precision and reduced trauma.
Grankvist R, Chireh A, Sandell M, ..., Daub CO, Holmin S
Sci Rep 10 (1) 8029 [2020-05-15; online 2020-05-15]
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Integrative genomics approach identifies molecular features associated with early-stage ovarian carcinoma histotypes.
Engqvist H, Parris TZ, Biermann J, ..., Karlsson P, Helou K
Sci Rep 10 (1) 7946 [2020-05-14; online 2020-05-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education.
Jelenkovic A, Sund R, Yokoyama Y, ..., Kaprio J, Silventoinen K
Sci Rep 10 (1) 7974 [2020-05-14; online 2020-05-14]
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Srebf1 Controls Midbrain Dopaminergic Neurogenesis.
Toledo EM, Yang S, Gyllborg D, ..., Linnarsson S, Arenas E
Cell Rep 31 (5) 107601 [2020-05-05; online 2020-05-07]
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL
BMC Med. Genet. 21 (1) 90 [2020-05-05; online 2020-05-05]
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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
Bieder A, Einarsdottir E, Matsson H, ..., Kere J, Tapia-Páez I
BMC Med. Genet. 21 (1) 87 [2020-05-01; online 2020-05-01]
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Differential Expression of Immune Genes between Two Closely Related Beetle Species with Different Immunocompetence following Attack by Asecodes parviclava.
Yang X, Fors L, Slotte T, ..., Wheat CW, Hambäck PA
Genome Biol Evol 12 (5) 522-534 [2020-05-01; online 2020-04-14]
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Plesser Duvdevani M, Pettersson M, Eisfeldt J, ..., Lindstrand A, Harel T
Am. J. Med. Genet. A 182 (5) 1143-1151 [2020-05-00; online 2020-03-03]
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Whole-genome sequencing of human remains to enable genealogy DNA database searches - A case report.
Tillmar A, Sjölund P, Lundqvist B, ..., Älgenäs C, Green H
Forensic Sci Int Genet 46 (-) 102233 [2020-05-00; online 2020-01-17]
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Transcriptome profiling of Ewing sarcomas - treatment resistance pathways and IGF-dependency.
Chen Y, Hesla AC, Lin Y, ..., Larsson O, Haglund F
Mol Oncol 14 (5) 1101-1117 [2020-05-00; online 2020-03-13]
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SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.
Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS
Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Parentage and relatedness reconstruction in Pinus sylvestris using genotyping-by-sequencing.
Hall D, Zhao W, Wennström U, Andersson Gull B, Wang XR
Heredity (Edinb) 124 (5) 633-646 [2020-05-00; online 2020-03-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Next-Generation Sequencing Reveals Differential Responses to Acute versus Long-Term Exposures to Graphene Oxide in Human Lung Cells.
Mukherjee SP, Gupta G, Klöditz K, ..., Kostarelos K, Fadeel B
Small 16 (21) e1907686 [2020-05-00; online 2020-03-29]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
Bryois J, Skene NG, Hansen TF, ..., Hjerling-Leffler J, Sullivan PF
Nat. Genet. 52 (5) 482-493 [2020-05-00; online 2020-04-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fungal Diversity in the Phyllosphere of Pinus heldreichii H. Christ—An Endemic and High-Altitude Pine of the Mediterranean Region
Lazarević J, Menkis A
Diversity 12 (5) 172 [2020-04-28; online 2020-04-28]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Biodiversity between sand grains: Meiofauna composition across southern and western Sweden assessed by metabarcoding.
Atherton S, Jondelius U
Biodivers Data J 8 (-) e51813 [2020-04-27; online 2020-04-27]
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Molecular profiling of driver events in metastatic uveal melanoma.
Karlsson J, Nilsson LM, Mitra S, ..., Olofsson Bagge R, Nilsson JA
Nat Commun 11 (1) 1894 [2020-04-20; online 2020-04-20]
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PubMed DOI Crossref
Effect of Cobalt, Nickel, and Selenium/Tungsten Deficiency on Mesophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds.
Šafarič L, Yekta SS, Svensson BH, ..., Bastviken D, Björn A
Microorganisms 8 (4) 598 [2020-04-20; online 2020-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fungi and Oomycetes in the Irrigation Water of Forest Nurseries
Marčiulynas A, Marčiulynienė D, Lynikienė J, ..., Vaičiukynė M, Menkis A
Forests 11 (4) 459 [2020-04-18; online 2020-04-18]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genome-Scale Metabolic Modeling of Glioblastoma Reveals Promising Targets for Drug Development.
Larsson I, Uhlén M, Zhang C, Mardinoglu A
Front Genet 11 (-) 381 [2020-04-17; online 2020-04-17]
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Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs.
Bianchi M, Rafati N, Karlsson Å, ..., Lindblad-Toh K, Rosengren Pielberg G
BMC Genomics 21 (1) 307 [2020-04-16; online 2020-04-16]
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Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP
Nat Commun 11 (1) 1842 [2020-04-15; online 2020-04-15]
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Automation of Spatial Transcriptomics library preparation to enable rapid and robust insights into spatial organization of tissues.
Berglund E, Saarenpää S, Jemt A, ..., Lundeberg J, Giacomello S
BMC Genomics 21 (1) 298 [2020-04-15; online 2020-04-15]
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Generation of Retinal Pigment Epithelial Cells Derived from Human Embryonic Stem Cells Lacking Human Leukocyte Antigen Class I and II.
Petrus-Reurer S, Winblad N, Kumar P, ..., Kvanta A, Lanner F
Stem Cell Reports 14 (4) 648-662 [2020-04-14; online 2020-03-19]
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The honeybee (Apis mellifera) developmental state shapes the genetic composition of the deformed wing virus-A quasispecies during serial transmission.
Yañez O, Chávez-Galarza J, Tellgren-Roth C, ..., Neumann P, de Miranda JR
Sci Rep 10 (1) 5956 [2020-04-06; online 2020-04-06]
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Draft Genome Sequence of the Urinary Catheter Isolate Enterobacter ludwigii CEB04 with High Biofilm Forming Capacity.
Shafeeq S, Wang X, Lünsdorf H, Brauner A, Römling U
Microorganisms 8 (4) 522 [2020-04-05; online 2020-04-05]
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The conifer root rot pathogens Heterobasidion irregulare and Heterobasidion occidentale employ different strategies to infect Norway spruce.
Hu Y, Elfstrand M, Stenlid J, Durling MB, Olson Å
Sci Rep 10 (1) 5884 [2020-04-03; online 2020-04-03]
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PubMed DOI Crossref
Paralogization and New Protein Architectures in Planctomycetes Bacteria with Complex Cell Structures.
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Mol. Biol. Evol. 37 (4) 1020-1040 [2020-04-01; online 2019-12-07]
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Extensive Clonal Branching Shapes the Evolutionary History of High-Risk Pediatric Cancers.
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Cancer Res. 80 (7) 1512-1523 [2020-04-01; online 2020-02-10]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Effects of whole-grain wheat, rye, and lignan supplementation on cardiometabolic risk factors in men with metabolic syndrome: a randomized crossover trial.
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Am. J. Clin. Nutr. 111 (4) 864-876 [2020-04-01; online 2020-02-26]
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Substantial intrinsic variability in chemoradiosensitivity of newly established anaplastic thyroid cancer cell-lines.
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Acta Otolaryngol. 140 (4) 337-343 [2020-04-00; online 2020-01-10]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Plant Cell 32 (4) 950-966 [2020-04-00; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis.
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Acta Oncol 59 (4) 417-426 [2020-04-00; online 2020-01-10]
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Long-term application of Swedish sewage sludge on farmland does not cause clear changes in the soil bacterial resistome.
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Environ Int 137 (-) 105339 [2020-04-00; online 2020-02-06]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genes and variants in hematopoiesis-related pathways are associated with gemcitabine/carboplatin-induced thrombocytopenia.
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Pharmacogenomics J. 20 (2) 179-191 [2020-04-00; online 2019-10-15]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver.
Cavalli M, Diamanti K, Pan G, ..., Komorowski J, Wadelius C
OMICS 24 (4) 180-194 [2020-04-00; online 2020-03-16]
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Transcriptome Profiling and Toxicity Following Long-Term, Low Dose Exposure of Human Lung Cells to Ni and NiO Nanoparticles-Comparison with NiCl2.
Gliga AR, Di Bucchianico S, Åkerlund E, Karlsson HL
Nanomaterials (Basel) 10 (4) 649 [2020-03-31; online 2020-03-31]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
Andersson K, Malmgren B, Åström E, ..., Taylan F, Dahllöf G
Orphanet J Rare Dis 15 (1) 80 [2020-03-31; online 2020-03-31]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Antimicrobial peptide and sequence variation along a latitudinal gradient in two anurans.
Cortázar-Chinarro M, Meyer-Lucht Y, Van der Valk T, ..., Laurila A, Höglund J
BMC Genet. 21 (1) 38 [2020-03-30; online 2020-03-30]
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PubMed DOI Crossref
An mRNA-mRNA Interaction Couples Expression of a Virulence Factor and Its Chaperone in Listeria monocytogenes.
Ignatov D, Vaitkevicius K, Durand S, ..., Condon C, Johansson J
Cell Rep 30 (12) 4027-4040.e7 [2020-03-24; online 2020-03-27]
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Marine Sediments Illuminate Chlamydiae Diversity and Evolution.
Dharamshi JE, Tamarit D, Eme L, ..., Spang A, Ettema TJG
Curr. Biol. 30 (6) 1032-1048.e7 [2020-03-23; online 2020-03-05]
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PubMed DOI Crossref
Discovery of a novel integron-borne aminoglycoside resistance gene present in clinical pathogens by screening environmental bacterial communities.
Böhm ME, Razavi M, Marathe NP, Flach CF, Larsson DGJ
Microbiome 8 (1) 41 [2020-03-20; online 2020-03-20]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Immune Profiling of Human Gut-Associated Lymphoid Tissue Identifies a Role for Isolated Lymphoid Follicles in Priming of Region-Specific Immunity.
Fenton TM, Jørgensen PB, Niss K, ..., Johansson-Lindbom B, Agace WW
Immunity 52 (3) 557-570.e6 [2020-03-17; online 2020-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Effects of acute sleep loss on diurnal plasma dynamics of CNS health biomarkers in young men.
Benedict C, Blennow K, Zetterberg H, Cedernaes J
Neurology 94 (11) e1181-e1189 [2020-03-17; online 2020-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T, Wahlfors T, Kähler A, ..., Schleutker J, Wiklund F
Genes 11 (3) 314 [2020-03-14; online 2020-03-14]
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PubMed DOI Crossref
Ecosystem-wide metagenomic binning enables prediction of ecological niches from genomes.
Alneberg J, Bennke C, Beier S, ..., Pinhassi J, Andersson AF
Commun Biol 3 (1) 119 [2020-03-13; online 2020-03-13]
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Comparing the Performance of Microsatellites and RADseq in Population Genetic Studies: Analysis of Data for Pike (Esox lucius) and a Synthesis of Previous Studies.
Sunde J, Yıldırım Y, Tibblin P, Forsman A
Front Genet 11 (-) 218 [2020-03-13; online 2020-03-13]
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Uncovering diversity and metabolic spectrum of animals in dead zone sediments.
Broman E, Bonaglia S, Holovachov O, ..., Hall POJ, Nascimento FJA
Commun Biol 3 (1) 106 [2020-03-06; online 2020-03-06]
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An atlas of the protein-coding genes in the human, pig, and mouse brain.
Sjöstedt E, Zhong W, Fagerberg L, ..., Uhlén M, Mulder J
Science 367 (6482) eaay5947 [2020-03-06; online 2020-03-07]
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PubMed DOI Crossref
The Molecular Anatomy of Mouse Skin during Hair Growth and Rest.
Joost S, Annusver K, Jacob T, ..., Sandberg R, Kasper M
Cell Stem Cell 26 (3) 441-457.e7 [2020-03-05; online 2020-02-27]
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
Li C, Stoma S, Lotta LA, ..., Langenberg C, Codd V
Am. J. Hum. Genet. 106 (3) 389-404 [2020-03-05; online 2020-02-27]
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Transcriptomic resources for evolutionary studies in flat periwinkles and related species.
Marques JP, Sotelo G, Galindo J, ..., Hollander J, Faria R
Sci Data 7 (1) 73 [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Oral Microbiota Profile Associates with Sugar Intake and Taste Preference Genes.
Esberg A, Haworth S, Hasslöf P, Lif Holgerson P, Johansson I
Nutrients 12 (3) 681 [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The nf-core framework for community-curated bioinformatics pipelines.
Ewels PA, Peltzer A, Fillinger S, ..., Di Tommaso P, Nahnsen S
Nat. Biotechnol. 38 (3) 276-278 [2020-03-00; online 2020-02-15]
NGI Stockholm (Genomics Applications) [Technology development] NGI Stockholm (Genomics Production) [Technology development] National Genomics Infrastructure [Technology development]
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Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.
Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G
Leuk. Lymphoma 61 (3) 604-613 [2020-03-00; online 2019-10-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.
Danielsson M, Halvardson J, Davies H, ..., Dumanski JP, Forsberg LA
Eur. J. Hum. Genet. 28 (3) 349-357 [2020-03-00; online 2019-10-25]
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PubMed DOI Crossref
Hyena paleogenomes reveal a complex evolutionary history of cross-continental gene flow between spotted and cave hyena.
Westbury MV, Hartmann S, Barlow A, ..., Heller R, Hofreiter M
Sci Adv 6 (11) eaay0456 [2020-03-00; online 2020-03-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.
Reid S, Alexsson A, Frodlund M, ..., Rönnblom L, Leonard D
Ann. Rheum. Dis. 79 (3) 363-369 [2020-03-00; online 2019-12-11]
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Heritability of Caries Scores, Trajectories, and Disease Subtypes.
Haworth S, Esberg A, Lif Holgerson P, ..., Franks PW, Johansson I
J Dent Res 99 (3) 264-270 [2020-03-00; online 2020-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Functionally distinct subgroups of oligodendrocyte precursor cells integrate neural activity and execute myelin formation.
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Nat. Neurosci. 23 (3) 363-374 [2020-03-00; online 2020-02-17]
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PubMed DOI Crossref
Evidence for widespread selection in shaping the genomic landscape during speciation of Populus.
Wang J, Street NR, Park EJ, Liu J, Ingvarsson PK
Mol. Ecol. 29 (6) 1120-1136 [2020-03-00; online 2020-03-09]
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PubMed DOI Crossref
PCSK6 Is a Key Protease in the Control of Smooth Muscle Cell Function in Vascular Remodeling.
Rykaczewska U, Suur BE, Röhl S, ..., Hedin U, Matic L
Circ. Res. 126 (5) 571-585 [2020-02-28; online 2020-01-02]
Global Proteomics and Proteogenomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia.
Richards AL, Pardiñas AF, Frizzati A, ..., O'Donovan MC, Walters JTR
Schizophr Bull 46 (2) 336-344 [2020-02-26; online 2019-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Patterns of African and Asian admixture in the Afrikaner population of South Africa.
Hollfelder N, Erasmus JC, Hammaren R, ..., Greeff JM, Schlebusch CM
BMC Biol. 18 (1) 16 [2020-02-24; online 2020-02-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression.
Pan G, Cavalli M, Carlsson B, ..., Kumar C, Wadelius C
iScience 23 (2) 100808 [2020-02-21; online 2020-01-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dominance of Mating Type A1 and Indication of Epigenetic Effects During Early Stages of Mating in Phytophthora infestans.
Tzelepis G, Hodén KP, Fogelqvist J, ..., Vetukuri RR, Dixelius C
Front Microbiol 11 (-) 252 [2020-02-21; online 2020-02-21]
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PubMed DOI Crossref
Biomolecular analyses reveal the age, sex and species identity of a near-intact Pleistocene bird carcass.
Dussex N, Stanton DWG, Sigeman H, ..., Hansson B, Dalén L
Commun Biol 3 (1) 84 [2020-02-21; online 2020-02-21]
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PubMed DOI Crossref
Validation of Novel Prognostic Biomarkers for Early-Stage Clear-Cell, Endometrioid and Mucinous Ovarian Carcinomas Using Immunohistochemistry.
Engqvist H, Parris TZ, Kovács A, ..., Karlsson P, Helou K
Front Oncol 10 (-) 162 [2020-02-18; online 2020-02-18]
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PubMed DOI Crossref
Managed and Unmanaged Pinus sylvestris Forest Stands Harbour Similar Diversity and Composition of the Phyllosphere and Soil Fungi.
Lynikienė J, Marčiulynienė D, Marčiulynas A, ..., Vaičiukynė M, Menkis A
Microorganisms 8 (2) 259 [2020-02-15; online 2020-02-15]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.
Nordlund J, Marincevic-Zuniga Y, Cavelier L, ..., Lönnerholm G, Syvänen AC
Sci Rep 10 (1) 2512 [2020-02-13; online 2020-02-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Using null models to compare bacterial and microeukaryotic metacommunity assembly under shifting environmental conditions.
Vass M, Székely AJ, Lindström ES, Langenheder S
Sci Rep 10 (1) 2455 [2020-02-12; online 2020-02-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal trajectories, correlations and mortality associations of nine biological ages across 20-years follow-up.
Li X, Ploner A, Wang Y, ..., Jylhävä J, Hägg S
Elife 9 (-) - [2020-02-11; online 2020-02-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S, Pettersson M, Eisfeldt J, ..., Anderlid BM, Lindstrand A
PLoS ONE 15 (2) e0228622 [2020-02-10; online 2020-02-10]
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PubMed DOI Crossref
Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia.
Grönroos T, Mäkinen A, Laukkanen S, ..., Heinäniemi M, Lohi O
Sci Rep 10 (1) 2043 [2020-02-06; online 2020-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A chromosome-scale reference genome for Giardia intestinalis WB.
Xu F, Jex A, Svärd SG
Sci Data 7 (1) 38 [2020-02-04; online 2020-02-04]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Demography and Natural Selection Have Shaped Genetic Variation in the Widely Distributed Conifer Norway Spruce (Picea abies).
Wang X, Bernhardsson C, Ingvarsson PK
Genome Biol Evol 12 (2) 3803-3817 [2020-02-01; online 2020-01-21]
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PubMed DOI Crossref
Convergent Evolution of Hydrogenosomes from Mitochondria by Gene Transfer and Loss.
Lewis WH, Lind AE, Sendra KM, ..., Ettema TJG, Embley TM
Mol. Biol. Evol. 37 (2) 524-539 [2020-02-01; online 2019-10-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The antimalarial drug amodiaquine stabilizes p53 through ribosome biogenesis stress, independently of its autophagy-inhibitory activity.
Espinoza JA, Zisi A, Kanellis DC, ..., Lindström MS, Bartek J
Cell Death Differ. 27 (2) 773-789 [2020-02-00; online 2019-07-08]
Chemical Biology Consortium Sweden (CBCS) [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Dynamic architecture and regulatory implications of the miRNA network underlying the response to stress in melon.
Sanz-Carbonell A, Marques MC, Martinez G, Gomez G
RNA Biol 17 (2) 292-308 [2020-02-00; online 2019-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.
Bonomi A, Veglia F, Baldassarre D, ..., Gigante B, on behalf of the IMPROVE study group
Genes Immun. 21 (2) 100-108 [2020-02-00; online 2020-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Painting of Fourth and the X-Linked 1.688 Satellite in D. melanogaster is Involved in Chromosome-Wide Gene Regulation.
Ekhteraei-Tousi S, Lewerentz J, Larsson J
Cells 9 (2) 323 [2020-01-30; online 2020-01-30]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diversity and Host Interactions Among Virulent and Temperate Baltic Sea Flavobacterium Phages.
Nilsson E, Bayfield OW, Lundin D, Antson AA, Holmfeldt K
Viruses 12 (2) 158 [2020-01-30; online 2020-01-30]
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PubMed DOI Crossref
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.
Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B
F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]
Bioinformatics (NBIS) [Technology development] Bioinformatics Long-term Support WABI [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Technology development] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Building de novo reference genome assemblies of complex eukaryotic microorganisms from single nuclei.
Montoliu-Nerin M, Sánchez-García M, Bergin C, ..., Johannesson H, Rosling A
Sci Rep 10 (1) 1303 [2020-01-28; online 2020-01-28]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Population Pharmacokinetics and Pharmacogenetics of Ethambutol in Adult Patients Coinfected with Tuberculosis and HIV.
Sundell J, Bienvenu E, Birgersson S, Äbelö A, Ashton M
Antimicrob. Agents Chemother. 64 (2) - [2020-01-27; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CREBBP and WDR 24 Identified as Candidate Genes for Quantitative Variation in Red-Brown Plumage Colouration in the Chicken.
Fogelholm J, Henriksen R, Höglund A, ..., Jensen P, Wright D
Sci Rep 10 (1) 1161 [2020-01-24; online 2020-01-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M, Lacaze P, Rath EM, ..., Dinger ME, Thomas DM
Nat Commun 11 (1) 435 [2020-01-23; online 2020-01-23]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Reverse engineering directed gene regulatory networks from transcriptomics and proteomics data of biomining bacterial communities with approximate Bayesian computation and steady-state signalling simulations.
Buetti-Dinh A, Herold M, Christel S, ..., Friedman R, Dopson M
BMC Bioinformatics 21 (1) 23 [2020-01-21; online 2020-01-21]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes.
Etemadikhah M, Niazi A, Wetterberg L, Feuk L
Sci Rep 10 (1) 630 [2020-01-20; online 2020-01-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of centromere function drives karyotype evolution in closely related Malassezia species.
Sankaranarayanan SR, Ianiri G, Coelho MA, ..., Heitman J, Sanyal K
Elife 9 (-) - [2020-01-20; online 2020-01-20]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Genome-Based Comparison of All Species of the Genus Moorella, and Status of the Species Moorella thermoacetica and Moorella thermoautotrophica.
Redl S, Poehlein A, Esser C, ..., Dürre P, Nielsen AT
Front Microbiol 10 (-) 3070 [2020-01-17; online 2020-01-17]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice.
Purhonen J, Grigorjev V, Ekiert R, ..., Fellman V, Kallijärvi J
Nat Commun 11 (1) 322 [2020-01-16; online 2020-01-16]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Gene regulatory response to hyposalinity in the brown seaweed Fucus vesiculosus.
Rugiu L, Panova M, Pereyra RT, Jormalainen V
BMC Genomics 21 (1) 42 [2020-01-13; online 2020-01-13]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Development and characterization of an EMS-mutagenized wheat population and identification of salt-tolerant wheat lines.
Lethin J, Shakil SSM, Hassan S, ..., Olsson O, Aronsson H
BMC Plant Biol. 20 (1) 18 [2020-01-13; online 2020-01-13]
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PubMed DOI Crossref
A regulatory role for CHD2 in myelopoiesis.
Shahin Varnoosfaderani F, Palau A, Dong W, ..., Svensson JP, Lennartsson A
Epigenetics 15 (6-7) 702-714 [2020-01-10; online 2020-01-10]
Bioinformatics Support for Computational Resources [Service] CRISPR Functional Genomics [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Shah S, Henry A, Roselli C, ..., Swerdlow DI, Lumbers RT
Nat Commun 11 (1) 163 [2020-01-09; online 2020-01-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
Laan L, Klar J, Sobol M, ..., Schuster J, Dahl N
Clin Epigenetics 12 (1) 9 [2020-01-08; online 2020-01-08]
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Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet.
Gelabert P, Sandoval-Velasco M, Serres A, ..., Gilbert MTP, Lalueza-Fox C
Curr. Biol. 30 (1) 108-114.e5 [2020-01-06; online 2019-12-12]
NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The Mitogenome of Norway Spruce and a Reappraisal of Mitochondrial Recombination in Plants.
Sullivan AR, Eldfjell Y, Schiffthaler B, ..., Street NR, Wang XR
Genome Biol Evol 12 (1) 3586-3598 [2020-01-01; online 2019-11-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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The Genome of the Endangered Dryas Monkey Provides New Insights into the Evolutionary History of the Vervets.
van der Valk T, Gonda CM, Silegowa H, ..., Detwiler KM, Guschanski K
Mol. Biol. Evol. 37 (1) 183-194 [2020-01-01; online 2019-09-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Whole genome sequencing of apparently mutation-negative MEN1 patients.
Backman S, Bajic D, Crona J, ..., Skogseid B, Stålberg P
Eur. J. Endocrinol. 182 (1) 35-45 [2020-01-00; online 2019-10-29]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Myers L, Blyth M, Moradkhani K, ..., Anderlid BM, Tammimies K
Mol Genet Genomic Med 8 (1) e1013 [2020-01-00; online 2019-11-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome.
Björk A, Richardsdotter Andersson E, Imgenberg-Kreuz J, ..., Nordmark G, Wahren-Herlenius M
RMD Open 6 (1) e000995 [2020-01-00; online 2020-01-21]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
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Genotypic variation in Norway spruce correlates to fungal communities in vegetative buds.
Elfstrand M, Zhou L, Baison J, ..., Stenlid J, García-Gil MR
Mol. Ecol. 29 (1) 199-213 [2020-01-00; online 2019-12-09]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genome-wide signatures of environmental adaptation in European aspen (Populus tremula) under current and future climate conditions.
Ingvarsson PK, Bernhardsson C
Evol Appl 13 (1) 132-142 [2020-01-00; online 2019-04-02]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Association of genetic variants related to plasma fatty acids with type 2 diabetes mellitus and glycaemic traits: a Mendelian randomisation study.
Yuan S, Larsson SC
Diabetologia 63 (1) 116-123 [2020-01-00; online 2019-11-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref
Novel Viruses Found in Antricola Ticks Collected in Bat Caves in the Western Amazonia of Brazil.
Blomström AL, Luz HR, Öhlund P, ..., Labruna MB, Berg M
Viruses 12 (1) - [2019-12-31; online 2019-12-31]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A Comprehensive Sequencing-Based Analysis of Allelic Methylation Patterns in Hemostatic Genes in Human Liver
Olsson Lindvall M, Davila Lopez M, Klasson S, ..., Stanne TM, Jern C
Thromb. Haemost. 120 (02) 229-242 [2019-12-30; online 2019-12-30]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
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Gene transfer across species boundaries in bryophytes: evidence from major life cycle stages in Homalothecium lutescens and H. sericeum.
Sawangproh W, Hedenäs L, Lang AS, Hansson B, Cronberg N
Ann. Bot. - (-) - [2019-12-24; online 2019-12-24]
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Inoculum Source Determines Acetate and Lactate Production during Anaerobic Digestion of Sewage Sludge and Food Waste.
Moestedt J, Westerholm M, Isaksson S, Schnürer A
Bioengineering 7 (1) 3 [2019-12-23; online 2019-12-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Consequences of past climate change and recent human persecution on mitogenomic diversity in the arctic fox.
Larsson P, von Seth J, Hagen IJ, ..., Stanton DWG, Dalén L
Philos. Trans. R. Soc. Lond., B, Biol. Sci. 374 (1788) 20190212 [2019-12-23; online 2019-11-04]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Sequencing detects human papillomavirus in some apparently HPV-negative invasive cervical cancers.
Arroyo Mühr LS, Lagheden C, Eklund C, ..., Sundström K, Dillner J
J. Gen. Virol. - (-) - [2019-12-20; online 2019-12-20]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic Screening of Plasticity Regulating Nogo-Type Signaling Genes in Migraine.
Smedfors G, Liesecke F, Ran C, ..., Karlsson TE, Carmine Belin A
Brain Sci 10 (1) - [2019-12-20; online 2019-12-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A genome-wide transcriptomic analysis of protein-coding genes in human blood cells.
Uhlen M, Karlsson MJ, Zhong W, ..., Fagerberg L, Brodin P
Science 366 (6472) - [2019-12-20; online 2019-12-21]
Bioinformatics Support for Computational Resources [Service] Cellular Immunomonitoring [Technology development] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Tissue-specific transposon-associated small RNAs in the gymnosperm tree, Norway spruce.
Nakamura M, Köhler C, Hennig L
BMC Genomics 20 (1) 997 [2019-12-19; online 2019-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Longitudinal DNA methylation changes at MET may alter HGF/c-MET signalling in adolescents at risk for depression.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
Epigenetics 15 (6-7) 646-663 [2019-12-19; online 2019-12-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A transposable element insertion is associated with an alternative life history strategy.
Woronik A, Tunström K, Perry MW, ..., Käkelä R, Wheat CW
Nat Commun 10 (1) 5757 [2019-12-17; online 2019-12-17]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa A, Rohlin A, Andersson MK, ..., Stenman G, Kölby L
Am. J. Med. Genet. A - (-) - [2019-12-14; online 2019-12-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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BEN-solo factors partition active chromatin to ensure proper gene activation in Drosophila.
Ueberschär M, Wang H, Zhang C, ..., Wen J, Dai Q
Nat Commun 10 (1) 5700 [2019-12-13; online 2019-12-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A Spatiotemporal Organ-Wide Gene Expression and Cell Atlas of the Developing Human Heart.
Asp M, Giacomello S, Larsson L, ..., Sylvén C, Lundeberg J
Cell 179 (7) 1647-1660.e19 [2019-12-12; online 2019-12-14]
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Comprehensive longitudinal study of epigenetic mutations in aging.
Wang Y, Karlsson R, Jylhävä J, ..., Almgren M, Hägg S
Clin Epigenetics 11 (1) 187 [2019-12-09; online 2019-12-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis.
Rivera NV, Patasova K, Kullberg S, ..., Grunewald J, Padyukov L
Sci Rep 9 (1) 18633 [2019-12-09; online 2019-12-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group.
Jia T, Chu C, Liu Y, ..., Schumann G, Desrivières S
Mol. Psychiatry - (-) - [2019-12-06; online 2019-12-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cell Type-Specific Expression of Testis Elevated Genes Based on Transcriptomics and Antibody-Based Proteomics.
Pineau C, Hikmet F, Zhang C, ..., Uhlén M, Lindskog C
J. Proteome Res. 18 (12) 4215-4230 [2019-12-06; online 2019-08-29]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Humanized Stem Cell Models of Pediatric Medulloblastoma Reveal an Oct4/mTOR Axis that Promotes Malignancy.
Čančer M, Hutter S, Holmberg KO, ..., Weishaupt H, Swartling FJ
Cell Stem Cell 25 (6) 855-870.e11 [2019-12-05; online 2019-11-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Specialized sledge dogs accompanied Inuit dispersal across the North American Arctic.
Ameen C, Feuerborn TR, Brown SK, ..., Darwent CM, Evin A
Proc. Biol. Sci. 286 (1916) 20191929 [2019-12-04; online 2019-11-27]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Replicating associations between DNA methylation and body mass index in a longitudinal sample of older twins.
Karlsson IK, Ericsson M, Wang Y, ..., Reynolds CA, Dahl Aslan AK
Int J Obes (Lond) - (-) - [2019-12-04; online 2019-12-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The MADS-box transcription factor PHERES1 controls imprinting in the endosperm by binding to domesticated transposons.
Batista RA, Moreno-Romero J, Qiu Y, ..., Figueiredo DD, Köhler C
Elife 8 (-) - [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait.
Vicente M, Priehodová E, Diallo I, ..., Černý V, Schlebusch CM
BMC Genomics 20 (1) 915 [2019-12-02; online 2019-12-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High throughput barcoding method for genome-scale phasing.
Redin D, Frick T, Aghelpasand H, ..., Olsen RA, Ahmadian A
Sci Rep 9 (1) 18116 [2019-12-02; online 2019-12-02]
NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]
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DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy.
Tsagiopoulou M, Papakonstantinou N, Moysiadis T, ..., Rosenquist R, Stamatopoulos K
Clin Epigenetics 11 (1) 177 [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Arteria: An automation system for a sequencing core facility.
Dahlberg J, Hermansson J, Sturlaugsson S, ..., Hofmann O, Larsson P
Gigascience 8 (12) - [2019-12-01; online 2019-12-12]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type
Franco I, Helgadottir HT, Moggio A, ..., Supek F, Eriksson M
Genome Biol. 20 (1) - [2019-12-00; online 2019-12-18]
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Transmission dynamics study of tuberculosis isolates with whole genome sequencing in southern Sweden
Alaridah N, Hallbäck ET, Tångrot J, ..., Kaijser B, Godaly G
Sci Rep 9 (1) - [2019-12-00; online 2019-03-20]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
Schuster J, Laan L, Klar J, ..., Birnir B, Dahl N
Neurobiol. Dis. 132 (-) 104583 [2019-12-00; online 2019-08-21]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomic footprint of sexual conflict.
Sayadi A, Martinez Barrio A, Immonen E, ..., Nystedt B, Arnqvist G
Nat Ecol Evol 3 (12) 1725-1730 [2019-12-00; online 2019-11-18]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases
Cavalli M, Baltzer N, Pan G, ..., Komorowski J, Wadelius C
Hum Genomics 13 (1) 20 [2019-12-00; online 2019-04-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sewage effluent from an Indian hospital harbors novel carbapenemases and integron-borne antibiotic resistance genes
Marathe NP, Berglund F, Razavi M, ..., Kristiansson E, Larsson DGJ
Microbiome 7 (1) - [2019-12-00; online 2019-06-27]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PECTIN ACETYLESTERASE9 Affects the Transcriptome and Metabolome and Delays Aphid Feeding.
Kloth KJ, Abreu IN, Delhomme N, ..., Moritz T, Albrectsen BR
Plant Physiol. 181 (4) 1704-1720 [2019-12-00; online 2019-09-24]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
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Insight into the biology of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members
Behra PRK, Pettersson BMF, Ramesh M, Dasgupta S, Kirsebom LA
Sci Rep 9 (1) 19259 [2019-12-00; online 2019-12-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers
Höglund J, Rafati N, Rask-Andersen M, ..., Ek WE, Johansson Å
Sci Rep 9 (1) - [2019-12-00; online 2019-11-14]
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Genomic architecture of parallel ecological divergence: Beyond a single environmental contrast.
Morales HE, Faria R, Johannesson K, ..., Westram AM, Butlin RK
Sci Adv 5 (12) eaav9963 [2019-12-00; online 2019-12-04]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genome expansion of an obligate parthenogenesis-associated Wolbachia poses an exception to the symbiont reduction model
Kampfraath AA, Klasson L, Anvar SY, ..., Kraaijeveld K, Ellers J
BMC Genomics 20 (1) 106 [2019-12-00; online 2019-02-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Prediction of Serum 25-Hydroxyvitamin D, Calcium, and Parathyroid Hormone Levels in Relation to Development of Type 2 Diabetes: A Mendelian Randomization Study.
Yuan S, Jiang X, Michaëlsson K, Larsson SC
Diabetes Care 42 (12) 2197-2203 [2019-12-00; online 2019-09-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic signatures associated with imprinted paternally expressed genes in the Arabidopsis endosperm
Moreno-Romero J, Del Toro-De León G, Yadav VK, Santos-González J, Köhler C
Genome Biol. 20 (1) - [2019-12-00; online 2019-02-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing
Hård J, Al Hakim E, Kindblom M, ..., Mold JE, Frisén J
Genome Biol. 20 (1) - [2019-12-00; online 2019-04-01]
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PubMed DOI Crossref
An AP2/ERF transcription factor ERF139 coordinates xylem cell expansion and secondary cell wall deposition.
Wessels B, Seyfferth C, Escamez S, ..., Felten J, Tuominen H
New Phytol. 224 (4) 1585-1599 [2019-12-00; online 2019-07-02]
Integrated Microscopy Technologies Umeå [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
ATAC-seq reveals alterations in open chromatin in pancreatic islets from subjects with type 2 diabetes
Bysani M, Agren R, Davegårdh C, ..., Bacos K, Ling C
Sci Rep 9 (1) - [2019-12-00; online 2019-05-23]
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PubMed DOI Crossref
A cell fitness selection model for neuronal survival during development
Wang Y, Wu H, Fontanet P, ..., Hadjab S, Lallemend F
Nat Commun 10 (1) - [2019-12-00; online 2019-09-12]
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A Spatiomolecular Map of the Striatum
Märtin A, Calvigioni D, Tzortzi O, ..., Wärnberg E, Meletis K
Cell Rep 29 (13) 4320-4333.e5 [2019-12-00; online 2019-12-00]
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PubMed DOI Crossref
Programmed DNA elimination of germline development genes in songbirds.
Kinsella CM, Ruiz-Ruano FJ, Dion-Côté AM, ..., Forstmeier W, Suh A
Nat Commun 10 (1) 5468 [2019-11-29; online 2019-11-29]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The human secretome
Uhlén M, Karlsson MJ, Hober A, ..., Fagerberg L, Sivertsson Å
Sci. Signal. 12 (609) eaaz0274 [2019-11-26; online 2019-11-26]
Affinity Proteomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Spatial Proteomics [Collaborative]
PubMed DOI Crossref
The Swedish Twin Registry: Content and Management as a Research Infrastructure.
Zagai U, Lichtenstein P, Pedersen NL, Magnusson PKE
Twin Res Hum Genet - (-) 1-9 [2019-11-21; online 2019-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
Pisanu C, Williams MJ, Ciuculete DM, ..., Squassina A, Schiöth HB
Transl Psychiatry 9 (1) 315 [2019-11-21; online 2019-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BET and Aurora Kinase A inhibitors synergize against MYCN-positive human glioblastoma cells.
Čančer M, Drews LF, Bengtsson J, ..., Weishaupt H, Swartling FJ
Cell Death Dis 10 (12) 881 [2019-11-21; online 2019-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fast and Efficient Fc-Specific Photoaffinity Labeling To Produce Antibody-DNA Conjugates.
Stiller C, Aghelpasand H, Frick T, ..., Ahmadian A, Karlström AE
Bioconjug. Chem. 30 (11) 2790-2798 [2019-11-20; online 2019-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inferring the Genomic Landscape of Recombination Rate Variation in European Aspen ( Populus tremula).
Apuli RP, Bernhardsson C, Schiffthaler B, ..., Street NR, Ingvarsson PK
G3 (Bethesda) - (-) - [2019-11-19; online 2019-11-19]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells.
Panula S, Kurek M, Kumar P, ..., Lanner F, Stukenborg JB
Hum. Reprod. - (-) - [2019-11-19; online 2019-11-19]
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PubMed DOI Crossref
Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
Meng W, Sjöholm LK, Kononenko O, ..., Rüegg J, Liu Y
Mol. Psychiatry - (-) - [2019-11-19; online 2019-11-19]
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Lithium treatment reverses irradiation-induced changes in rodent neural progenitors and rescues cognition.
Zanni G, Goto S, Fragopoulou AF, ..., Hermanson O, Blomgren K
Mol. Psychiatry - (-) - [2019-11-14; online 2019-11-14]
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Effects of the Antimicrobial Peptide LL-37 and Innate Effector Mechanisms in Colistin-Resistant Klebsiella pneumoniae With mgrB Insertions.
Al-Farsi HM, Al-Adwani S, Ahmed S, ..., Giske CG, Bergman P
Front Microbiol 10 (-) 2632 [2019-11-14; online 2019-11-14]
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Long-read metabarcoding of the eukaryotic rDNA operon to phylogenetically and taxonomically resolve environmental diversity
Jamy M, Foster R, Barbera P, ..., Bass D, Burki F
Mol Ecol Resour - (-) - [2019-11-09; online 2019-11-09]
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Carnivores, competition and genetic connectivity in the Anthropocene.
Creel S, Spong G, Becker M, ..., Schiffthaler B, Chifunte C
Sci Rep 9 (1) 16339 [2019-11-08; online 2019-11-08]
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D
Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]
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Distinct Coastal Microbiome Populations Associated With Autochthonous- and Allochthonous-Like Dissolved Organic Matter.
Broman E, Asmala E, Carstensen J, Pinhassi J, Dopson M
Front Microbiol 10 (-) 2579 [2019-11-07; online 2019-11-07]
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Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
Lindholm Carlström E, Halvardson J, Etemadikhah M, ..., Gustavson KH, Feuk L
BMC Med Genomics 12 (1) 156 [2019-11-06; online 2019-11-06]
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PubMed DOI Crossref
Viromics Reveal a Number of Novel RNA Viruses in Swedish Mosquitoes.
Öhlund P, Hayer J, Lundén H, Hesson JC, Blomström AL
Viruses 11 (11) - [2019-11-05; online 2019-11-05]
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Genetic regulation of gene expression and splicing during a 10-year period of human aging.
Balliu B, Durrant M, Goede O, ..., Ingelsson E, Montgomery SB
Genome Biol. 20 (1) 230 [2019-11-04; online 2019-11-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sulfide level in municipal sludge digesters affects microbial community response to long-chain fatty acid loads.
Shakeri Yekta S, Liu T, Axelsson Bjerg M, ..., Björn A, Schnürer A
Biotechnol Biofuels 12 (1) 259 [2019-11-02; online 2019-11-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Serum Parathyroid Hormone and Risk of Coronary Artery Disease: Exploring Causality Using Mendelian Randomization.
Melhus H, Michaëlsson K, Larsson SC
J. Clin. Endocrinol. Metab. 104 (11) 5595-5600 [2019-11-01; online 2019-07-17]
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A genomic inference of the White Plymouth Rock genealogy.
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Poult. Sci. 98 (11) 5272-5280 [2019-11-01; online 2019-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.
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Diabetologia 62 (11) 1998-2006 [2019-11-00; online 2019-08-24]
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Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, ..., Forsberg LA, Perry JRB
Nature 575 (7784) 652-657 [2019-11-00; online 2019-11-20]
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Genetic differentiation between and within ecotypes of pike (Esox lucius) in the Baltic Sea
Nordahl O, Koch‐Schmidt P, Sunde J, ..., Forsman A, Larsson P
Aquatic Conserv: Mar Freshw Ecosyst 29 (11) 1923-1935 [2019-11-00; online 2019-08-16]
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Genetic architecture of subcortical brain structures in 38,851 individuals.
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Nat. Genet. 51 (11) 1624-1636 [2019-11-00; online 2019-10-21]
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Establishing arthropod community composition using metabarcoding: Surprising inconsistencies between soil samples and preservative ethanol and homogenate from Malaise trap catches.
Marquina D, Esparza-Salas R, Roslin T, Ronquist F
Mol Ecol Resour 19 (6) 1516-1530 [2019-11-00; online 2019-09-18]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia.
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Epigenetics 14 (11) 1125-1140 [2019-11-00; online 2019-06-26]
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Characterization of Bacterial Communities in Breeding Waters of Anopheles darlingi in Manaus in the Amazon Basin Malaria-Endemic Area.
Nilsson LKJ, de Oliveira MR, Marinotti O, ..., de Souza AQL, Terenius O
Microb. Ecol. 78 (4) 781-791 [2019-11-00; online 2019-04-15]
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The architecture of the Plasmodiophora brassicae nuclear and mitochondrial genomes.
Stjelja S, Fogelqvist J, Tellgren-Roth C, Dixelius C
Sci Rep 9 (1) 15753 [2019-10-31; online 2019-10-31]
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Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, ..., Kubo M, Wilson JF
Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]
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CRISPR-Cas9-mediated knockout of SPRY2 in human hepatocytes leads to increased glucose uptake and lipid droplet accumulation.
Cook NL, Pjanic M, Emmerich AG, ..., Castillejo-López C, Ingelsson E
BMC Endocr Disord 19 (1) 115 [2019-10-29; online 2019-10-29]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation.
Castillejo-Lopez C, Pjanic M, Pirona AC, ..., Arner E, Ingelsson E
iScience 20 (-) 42-59 [2019-10-25; online 2019-09-10]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A chromosome-level assembly of the Atlantic herring genome-detection of a supergene and other signals of selection.
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Genome Res. - (-) - [2019-10-24; online 2019-10-24]
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Puma genomes from North and South America provide insights into the genomic consequences of inbreeding.
Saremi NF, Supple MA, Byrne A, ..., Wilmers CC, Shapiro B
Nat Commun 10 (1) 4769 [2019-10-18; online 2019-10-18]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Whole-genome sequencing of synchronous thyroid carcinomas identifies aberrant DNA repair in thyroid cancer dedifferentiation
Paulsson JO, Backman S, Wang N, ..., Zedenius J, Juhlin CC
J. Pathol - (-) - [2019-10-17; online 2019-10-17]
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Microbe-host interplay in atopic dermatitis and psoriasis.
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Nat Commun 10 (1) 4703 [2019-10-16; online 2019-10-16]
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Metagenomes and metatranscriptomes from boreal potential and actual acid sulfate soil materials.
Högfors-Rönnholm E, Lopez-Fernandez M, Christel S, ..., Engblom S, Dopson M
Sci Data 6 (1) 207 [2019-10-16; online 2019-10-16]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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doepipeline: a systematic approach to optimizing multi-level and multi-step data processing workflows.
Svensson D, Sjögren R, Sundell D, Sjödin A, Trygg J
BMC Bioinformatics 20 (1) 498 [2019-10-15; online 2019-10-15]
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Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.
Yao S, Kuja-Halkola R, Martin J, ..., Bulik CM, Larsson H
Biol. Psychiatry 86 (8) 577-586 [2019-10-15; online 2019-05-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon.
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Proc. Biol. Sci. 286 (1912) 20191528 [2019-10-09; online 2019-10-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Along the Indian Ocean coast: genomic variation in Mozambique provides new insights into the Bantu expansion.
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Mol. Biol. Evol. - (-) - [2019-10-08; online 2019-10-08]
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Above-below surface interactions mediate effects of seagrass disturbance on meiobenthic diversity, nematode and polychaete trophic structure.
Nascimento FJA, Dahl M, Deyanova D, ..., Creer S, Gullström M
Commun Biol 2 (-) 362 [2019-10-04; online 2019-10-04]
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
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Nat. Genet. - (-) - [2019-10-02; online 2019-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Extreme Differences in Recombination Rate between the Genomes of a Solitary and a Social Bee.
Jones JC, Wallberg A, Christmas MJ, Kapheim KM, Webster MT
Mol. Biol. Evol. 36 (10) 2277-2291 [2019-10-01; online 2019-05-31]
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Dissecting the Effects of Selection and Mutation on Genetic Diversity in Three Wood White (Leptidea) Butterfly Species.
Talla V, Soler L, Kawakami T, ..., Wiklund C, Backström N
Genome Biol Evol 11 (10) 2875-2886 [2019-10-01; online 2019-10-04]
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
Sobol M, Klar J, Laan L, ..., Falk A, Dahl N
Mol Neurobiol 56 (10) 7113-7127 [2019-10-00; online 2019-04-13]
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High-definition spatial transcriptomics for in situ tissue profiling.
Vickovic S, Eraslan G, Salmén F, ..., Regev A, Ståhl PL
Nat. Methods 16 (10) 987-990 [2019-10-00; online 2019-09-09]
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Genome-wide evidence supports mitochondrial relationships and pervasive parallel phenotypic evolution in open-habitat chats.
Schweizer M, Warmuth VM, Alaei Kakhki N, ..., Suh A, Burri R
Mol. Phylogenet. Evol. 139 (-) 106568 [2019-10-00; online 2019-07-23]
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Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.
Odqvist L, Jevnikar Z, Riise R, ..., Collins B, Vaarala O
Ann. Rheum. Dis. 78 (10) 1363-1370 [2019-10-00; online 2019-07-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic basis and timing of a major mating system shift in Capsella.
Bachmann JA, Tedder A, Laenen B, ..., Castric V, Slotte T
New Phytol. 224 (1) 505-517 [2019-10-00; online 2019-08-01]
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Fam83F induces p53 stabilisation and promotes its activity.
Salama M, Benitez-Riquelme D, Elabd S, ..., Davidson G, Blattner C
Cell Death Differ. 26 (10) 2125-2138 [2019-10-00; online 2019-01-28]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Exploring a Pool-seq-only approach for gaining population genomic insights in nonmodel species.
Kurland S, Wheat CW, de la Paz Celorio Mancera M, ..., Ryman N, Laikre L
Ecol Evol 9 (19) 11448-11463 [2019-10-00; online 2019-09-26]
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Early Pleistocene enamel proteome from Dmanisi resolves Stephanorhinus phylogeny.
Cappellini E, Welker F, Pandolfi L, ..., Lordkipanidze D, Willerslev E
Nature 574 (7776) 103-107 [2019-10-00; online 2019-09-11]
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Distribution of bacteria between different milk fractions, investigated using culture-dependent methods and molecular-based and fluorescent microscopy approaches.
Sun L, Dicksved J, Priyashantha H, Lundh Å, Johansson M
J Appl Microbiol 127 (4) 1028-1037 [2019-10-00; online 2019-07-22]
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Clinical candidate and genistein analogue AXP107-11 has chemoenhancing functions in pancreatic adenocarcinoma through G protein-coupled estrogen receptor signaling.
Mesmar F, Dai B, Ibrahim A, ..., Fleming J, Williams C
Cancer Med - (-) - [2019-09-30; online 2019-09-30]
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Complete genomes of two extinct New Zealand passerines show responses to climate fluctuations but no evidence for genomic erosion prior to extinction.
Dussex N, von Seth J, Knapp M, ..., Robertson BC, Dalén L
Biol. Lett. 15 (9) 20190491 [2019-09-27; online 2019-09-04]
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Translational offsetting as a mode of estrogen receptor α-dependent regulation of gene expression.
Lorent J, Kusnadi EP, van Hoef V, ..., Larsson O, Furic L
EMBO J. - (-) e101323 [2019-09-26; online 2019-09-26]
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Ethylene Signaling Is Required for Fully Functional Tension Wood in Hybrid Aspen.
Seyfferth C, Wessels BA, Gorzsás A, ..., Sundberg B, Felten J
Front Plant Sci 10 (-) 1101 [2019-09-26; online 2019-09-26]
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Cytoplasmic protein misfolding titrates Hsp70 to activate nuclear Hsf1.
Masser AE, Kang W, Roy J, ..., Friedländer MR, Andréasson C
Elife 8 (-) - [2019-09-25; online 2019-09-25]
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Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.
Järviaho T, Bang B, Zachariadis V, ..., Niinimäki R, Nordgren A
Blood Adv 3 (18) 2722-2731 [2019-09-24; online 2019-09-15]
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Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development.
Johansson MM, Pottmeier P, Suciu P, ..., Peuckert C, Jazin E
Front Genet 10 (-) 891 [2019-09-24; online 2019-09-24]
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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, ..., Lindstrand A, Falk A
Front Genet 10 (-) 896 [2019-09-24; online 2019-09-24]
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IGEMS: The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update.
Pedersen NL, Gatz M, Finch BK, ..., Sachdev P, Whitfield KE
Twin Res Hum Genet - (-) 1-8 [2019-09-23; online 2019-09-23]
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Hypermethylation-associated downregulation of microRNA-4456 in hypersexual disorder with putative influence on oxytocin signalling: A DNA methylation analysis of miRNA genes.
Boström AE, Chatzittofis A, Ciuculete DM, ..., Schiöth HB, Jokinen J
Epigenetics - (-) 1-16 [2019-09-22; online 2019-09-22]
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The TGFB2-AS1 lncRNA Regulates TGF-β Signaling by Modulating Corepressor Activity.
Papoutsoglou P, Tsubakihara Y, Caja L, ..., Heldin CH, Moustakas A
Cell Rep 28 (12) 3182-3198.e11 [2019-09-17; online 2019-09-19]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Phylogenetic microbiota profiling in fecal samples depends on combination of sequencing depth and choice of NGS analysis method.
Rajan SK, Lindqvist M, Brummer RJ, Schoultz I, Repsilber D
PLoS ONE 14 (9) e0222171 [2019-09-17; online 2019-09-17]
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Genomic and Seasonal Variations among Aquatic Phages Infecting the Baltic Sea Gammaproteobacterium Rheinheimera sp. Strain BAL341.
Nilsson E, Li K, Fridlund J, ..., Pinhassi J, Holmfeldt K
Appl. Environ. Microbiol. 85 (18) - [2019-09-15; online 2019-08-29]
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A Single-Stranded Oligonucleotide Inhibits Toll-Like Receptor 3 Activation and Reduces Influenza A (H1N1) Infection.
Poux C, Dondalska A, Bergenstråhle J, ..., Tregoning JS, Spetz AL
Front Immunol 10 (-) 2161 [2019-09-12; online 2019-09-12]
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Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
Teumer A, Li Y, Ghasemi S, ..., Pattaro C, Köttgen A
Nat Commun 10 (1) 4130 [2019-09-11; online 2019-09-11]
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Recurrent convergent evolution at amino acid residue 261 in fish rhodopsin.
Hill J, Enbody ED, Pettersson ME, ..., Scheerer P, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 116 (37) 18473-18478 [2019-09-10; online 2019-08-26]
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Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease.
Stahel P, Nahmias A, Sud SK, ..., Batterham RL, Dash S
Diabetes - (-) - [2019-09-10; online 2019-09-10]
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Combining ERBB family and MET inhibitors is an effective therapeutic strategy in cutaneous malignant melanoma independent of BRAF/NRAS mutation status.
Das I, Wilhelm M, Höiom V, ..., Tuominen R, Egyhàzi Brage S
Cell Death Dis 10 (9) 663 [2019-09-10; online 2019-09-10]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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μLAS technology for DNA isolation coupled to Cas9-assisted targeting for sequencing and assembly of a 30 kb region in plant genome.
Milon N, Chantry-Darmon C, Satge C, ..., Bergès H, Bancaud A
Nucleic Acids Res. 47 (15) 8050-8060 [2019-09-05; online 2019-09-11]
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Differential gene expression in bovine endometrial epithelial cells after challenge with LPS; specific implications for genes involved in embryo maternal interactions.
Guo Y, van Schaik T, Jhamat N, ..., Andersson G, Humblot P
PLoS ONE 14 (9) e0222081 [2019-09-05; online 2019-09-05]
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Genome Sequencing of Pleurozium schreberi: The Assembled and Annotated Draft Genome of a Pleurocarpous Feather Moss.
Pederson ERA, Warshan D, Rasmussen U
G3 (Bethesda) 9 (9) 2791-2797 [2019-09-04; online 2019-09-04]
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Associations of Smoking and Alcohol and Coffee Intake with Fracture and Bone Mineral Density: A Mendelian Randomization Study.
Yuan S, Michaëlsson K, Wan Z, Larsson SC
Calcif. Tissue Int. - (-) - [2019-09-04; online 2019-09-04]
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Multilayered Tuning of Dosage Compensation and Z-Chromosome Masculinization in the Wood White (Leptidea sinapis) Butterfly.
Höök L, Leal L, Talla V, Backström N
Genome Biol Evol 11 (9) 2633-2652 [2019-09-01; online 2019-08-11]
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Genetic Affinities among Southern Africa Hunter-Gatherers and the Impact of Admixing Farmer and Herder Populations.
Vicente M, Jakobsson M, Ebbesen P, Schlebusch CM
Mol. Biol. Evol. 36 (9) 1849-1861 [2019-09-01; online 2019-07-10]
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Effects of allochthonous dissolved organic matter input on microbial composition and nitrogen-cycling genes at two contrasting estuarine sites.
Happel EM, Markussen T, Teikari JE, ..., Kisand V, Riemann L
FEMS Microbiol. Ecol. 95 (9) - [2019-09-01; online 2019-08-10]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast.
Tusso S, Nieuwenhuis BPS, Sedlazeck FJ, ..., Jeffares DC, Wolf JBW
Mol. Biol. Evol. 36 (9) 1975-1989 [2019-09-01; online 2019-06-22]
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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
Zulfiqar S, Tariq M, Ali Z, ..., Dahl N, Baig SM
J Clin Neurosci 67 (-) 19-23 [2019-09-00; online 2019-07-04]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes.
Tshabalala S, Choudhury A, Beeton-Kempen N, ..., Ramsay M, Mancama D
Pharmacogenet. Genomics 29 (7) 167-178 [2019-09-00; online 2019-06-05]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Orthologous nuclear markers and new transcriptomes that broadly cover the phylogenetic diversity of Acanthaceae.
Morais EB, Schönenberger J, Conti E, Antonelli A, Szövényi P
Appl Plant Sci 7 (9) e11290 [2019-09-00; online 2019-09-25]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Impact of demography on linked selection in two outcrossing Brassicaceae species.
Mattila TM, Laenen B, Horvath R, ..., Savolainen O, Slotte T
Ecol Evol 9 (17) 9532-9545 [2019-09-00; online 2019-08-13]
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Direct effects of organic pollutants on the growth and gene expression of the Baltic Sea model bacterium Rheinheimera sp. BAL341.
Karlsson CMG, Cerro-Gálvez E, Lundin D, ..., Vila-Costa M, Pinhassi J
Microb Biotechnol 12 (5) 892-906 [2019-09-00; online 2019-07-04]
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Copy number variation and neuropsychiatric problems in females and males in the general population.
Martin J, Tammimies K, Karlsson R, ..., Lichtenstein P, Magnusson PKE
Am. J. Med. Genet. B Neuropsychiatr. Genet. 180 (6) 341-350 [2019-09-00; online 2018-10-11]
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MiDRM pol: A High-Throughput Multiplexed Amplicon Sequencing Workflow to Quantify HIV-1 Drug Resistance Mutations against Protease, Reverse Transcriptase, and Integrase Inhibitors.
Aralaguppe SG, Ambikan AT, Ashokkumar M, ..., Sönnerborg A, Neogi U
Viruses 11 (9) - [2019-08-30; online 2019-08-30]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.
Ganna A, Verweij KJH, Nivard MG, ..., Neale BM, Zietsch BP
Science 365 (6456) - [2019-08-30; online 2019-08-31]
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Neuroticism as a predictor of frailty in old age: a genetically informative approach.
Danielsdottir HB, Jylhävä J, Hägg S, ..., Mosing MA, Lehto K
Psychosom Med - (-) - [2019-08-28; online 2019-08-28]
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DNA analysis of low- and high-density fractions defines heterogeneous subpopulations of small extracellular vesicles based on their DNA cargo and topology.
Lázaro-Ibáñez E, Lässer C, Shelke GV, ..., García-Rodríguez A, Lötvall J
J Extracell Vesicles 8 (1) 1656993 [2019-08-27; online 2019-08-27]
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Unique transcriptional and protein-expression signature in human lung tissue-resident NK cells.
Marquardt N, Kekäläinen E, Chen P, ..., Ljunggren HG, Michaëlsson J
Nat Commun 10 (1) 3841 [2019-08-26; online 2019-08-26]
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Non-parametric combination analysis of multiple data types enables detection of novel regulatory mechanisms in T cells of multiple sclerosis patients.
Fernandes SJ, Morikawa H, Ewing E, ..., Tegnér J, Gomez-Cabrero D
Sci Rep 9 (1) 11996 [2019-08-19; online 2019-08-19]
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Genome-wide systematic identification of methyltransferase recognition and modification patterns.
Jensen TØ, Tellgren-Roth C, Redl S, ..., Pedersen LE, Nielsen AT
Nat Commun 10 (1) 3311 [2019-08-19; online 2019-08-19]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Complete Genome Sequence of Hydrocarbon-Degrading Halotolerant Acinetobacter radioresistens DD78, Isolated from the Aconcagua River Mouth in Central Chile.
Macaya CC, Méndez V, Durán RE, ..., Moore ERB, Seeger M
Microbiol Resour Announc 8 (33) - [2019-08-15; online 2019-08-15]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genotyping by low-coverage whole-genome sequencing in intercross pedigrees from outbred founders: a cost-efficient approach.
Zan Y, Payen T, Lillie M, ..., Siegel PB, Carlborg Ö
Genet. Sel. Evol. 51 (1) 44 [2019-08-14; online 2019-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Protein Science Facility (PSF) [Service]
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Statistical Analysis of Community RNA Transcripts between Organic Carbon and Geogas-Fed Continental Deep Biosphere Groundwaters.
Lopez-Fernandez M, Broman E, Simone D, Bertilsson S, Dopson M
MBio 10 (4) - [2019-08-13; online 2019-08-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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PAK4 suppresses RELB to prevent senescence-like growth arrest in breast cancer.
Costa TDF, Zhuang T, Lorent J, ..., Defilippi P, Strömblad S
Nat Commun 10 (1) 3589 [2019-08-09; online 2019-08-09]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Lack of gene flow: Narrow and dispersed differentiation islands in a triplet of Leptidea butterfly species
Talla V, Johansson A, Dincă V, ..., Wiklund C, Backström N
Mol Ecol 28 (6) 3756-3770 [2019-08-08; online 2019-08-08]
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Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.
Glanville KP, Coleman JRI, Hanscombe KB, ..., O'Reilly PF, Lewis CM
Biol. Psychiatry - (-) - [2019-08-05; online 2019-08-05]
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Individual Physiological Adaptations Enable Selected Bacterial Taxa To Prevail during Long-Term Incubations.
Herlemann DPR, Markert S, Meeske C, ..., Jürgens K, Schweder T
Appl. Environ. Microbiol. 85 (15) - [2019-08-01; online 2019-07-18]
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Gene Flow in the Müllerian Mimicry Ring of a Poisonous Papuan Songbird Clade (Pitohui; Aves).
Garg KM, Sam K, Chattopadhyay B, ..., Ericson PGP, Rheindt FE
Genome Biol Evol 11 (8) 2332-2343 [2019-08-01; online 2019-08-17]
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Tobacco smoking induces changes in true DNA methylation, hydroxymethylation and gene expression in bronchoalveolar lavage cells.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Ekström TJ
EBioMedicine 46 (-) 290-304 [2019-08-00; online 2019-07-12]
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Substantial Heritable Variation in Recombination Rate on Multiple Scales in Honeybees and Bumblebees.
Kawakami T, Wallberg A, Olsson A, ..., Rundlöf M, Webster MT
Genetics 212 (4) 1101-1119 [2019-08-00; online 2019-05-31]
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Salinity drives meiofaunal community structure dynamics across the Baltic ecosystem.
Broman E, Raymond C, Sommer C, ..., Creer S, Nascimento FJA
Mol. Ecol. 28 (16) 3813-3829 [2019-08-00; online 2019-09-05]
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Maintenance of High Genome Integrity over Vegetative Growth in the Fairy-Ring Mushroom Marasmius oreades
Hiltunen M, Grudzinska-Sterno M, Wallerman O, Ryberg M, Johannesson H
Current Biology 29 (16) 2758-2765.e6 [2019-08-00; online 2019-08-00]
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Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.
von Holst S, Jiao X, Liu W, ..., Bryant P, Lindblom A
Eur. J. Hum. Genet. 27 (8) 1286-1295 [2019-08-00; online 2019-04-05]
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Interaction of Sox2 with RNA binding proteins in mouse embryonic stem cells
Samudyata , Amaral PP, Engström PG, ..., Kouzarides T, Castelo-Branco G
Experimental Cell Research 381 (1) 129-138 [2019-08-00; online 2019-08-00]
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Goodbye reference, hello genome graphs.
Ameur A
Nat. Biotechnol. 37 (8) 866-868 [2019-08-00; online 2019-08-04]
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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
Frisk S, Taylan F, Blaszczyk I, ..., Laurell T, Nordgren A
Clin. Genet. 96 (2) 118-125 [2019-08-00; online 2019-05-09]
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Complete subspecies-level phylogeny of the Oriolidae (Aves: Passeriformes): Out of Australasia and return.
Jønsson KA, Blom MPK, Marki PZ, ..., Ericson PGP, Irestedt M
Mol. Phylogenet. Evol. 137 (-) 200-209 [2019-08-00; online 2019-03-23]
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Anti-tumor effects of PIM/PI3K/mTOR triple kinase inhibitor IBL-302 in neuroblastoma.
Mohlin S, Hansson K, Radke K, ..., von Stedingk K, Bexell D
EMBO Mol Med 11 (8) e10058 [2019-08-00; online 2019-07-16]
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31° South: The physiology of adaptation to arid conditions in a passerine bird.
Ribeiro ÂM, Puetz L, Pattinson NB, ..., Smit B, Gilbert MTP
Mol. Ecol. 28 (16) 3709-3721 [2019-08-00; online 2019-08-06]
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Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Almlöf JC, Leonard D, ..., Sandling JK, Nordmark G
Front Immunol 10 (-) 1686 [2019-07-30; online 2019-07-30]
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Impact of vitamin D and vitamin D receptor TaqI polymorphism in primary human myoblasts.
Saini A, Björkhem-Bergman L, Boström J, ..., Rullman E, Gustafsson T
Endocr Connect 8 (7) 1070-1081 [2019-07-29; online 2019-07-29]
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Combinations of Spok genes create multiple meiotic drivers in Podospora.
Vogan AA, Ament-Velásquez SL, Granger-Farbos A, ..., Saupe SJ, Johannesson H
Elife 8 (-) - [2019-07-26; online 2019-07-26]
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Gudmundsson S, Wilbe M, Filipek-Górniok B, ..., Annerén G, Bondeson M
Sci Rep 9 (1) 10730 [2019-07-24; online 2019-07-24]
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Genomic differentiation tracks earth-historic isolation in an Indo-Australasian archipelagic pitta (Pittidae; Aves) complex.
Ericson PGP, Qu Y, Rasmussen PC, ..., Rheindt FE, Irestedt M
BMC Evol. Biol. 19 (1) 151 [2019-07-24; online 2019-07-24]
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Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.
Wallander K, Liu W, von Holst S, ..., Lindblom A, Lagerstedt-Robinson K
Genes Chromosomes Cancer - (-) - [2019-07-23; online 2019-07-23]
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Genome and plasmid diversity of Extended-Spectrum β-Lactamase-producing Escherichia coli ST131 - tracking phylogenetic trajectories with Bayesian inference.
Ny S, Sandegren L, Salemi M, Giske CG
Sci Rep 9 (1) 10291 [2019-07-16; online 2019-07-16]
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Optical DNA Mapping Combined with Cas9-Targeted Resistance Gene Identification for Rapid Tracking of Resistance Plasmids in a Neonatal Intensive Care Unit Outbreak.
Bikkarolla SK, Nordberg V, Rajer F, ..., Sandegren L, Westerlund F
MBio 10 (4) - [2019-07-09; online 2019-07-09]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Global gene expression analysis in etiolated and de-etiolated seedlings in conifers.
Ranade SS, Delhomme N, García-Gil MR
PLoS ONE 14 (7) e0219272 [2019-07-05; online 2019-07-05]
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Comparison of boreal acid sulfate soil microbial communities in oxidative and reductive environments.
Christel S, Yu C, Wu X, ..., Åström ME, Dopson M
Res. Microbiol. 170 (6-7) 288-295 [2019-07-03; online 2019-07-03]
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Efficient RNA silencing suppression activity of Potato Mop-Top Virus 8K protein is driven by variability and positive selection.
Kalyandurg PB, Tahmasebi A, Vetukuri RR, ..., Grenville-Briggs LJ, Savenkov EI
Virology 535 (-) 111-121 [2019-07-01; online 2019-07-01]
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Transcriptome analysis of shade avoidance and shade tolerance in conifers.
Ranade SS, Delhomme N, García-Gil MR
Planta 250 (1) 299-318 [2019-07-00; online 2019-04-26]
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Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.
Charitou T, Srihari S, Lynn MA, ..., Kolch W, Lynn DJ
Br. J. Cancer 121 (1) 37-50 [2019-07-00; online 2019-05-28]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
Lam M, Moslem M, Bryois J, ..., Sullivan PF, Falk A
Experimental Cell Research 383 (1) 111469 [2019-07-00; online 2019-07-00]
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Mutation dynamics of CpG dinucleotides during a recent event of vertebrate diversification.
Pértille F, Da Silva VH, Johansson AM, ..., Jensen P, Guerrero-Bosagna C
Epigenetics 14 (7) 685-707 [2019-07-00; online 2019-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Hemostatic Genes Exhibit a High Degree of Allele-Specific Regulation in Liver.
Olsson Lindvall M, Hansson L, Klasson S, ..., Jern C, Stanne TM
Thromb. Haemost. 119 (7) 1072-1083 [2019-07-00; online 2019-04-29]
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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL
Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]
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Epigenome-wide association study of lung function level and its change.
Imboden M, Wielscher M, Rezwan FI, ..., Jarvis D, Probst-Hensch NM
Eur. Respir. J. 54 (1) - [2019-07-00; online 2019-07-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Confident phylogenetic identification of uncultured prokaryotes through long read amplicon sequencing of the 16S-ITS-23S rRNA operon.
Martijn J, Lind AE, Schön ME, ..., Pettersson OV, Ettema TJG
Environ. Microbiol. 21 (7) 2485-2498 [2019-07-00; online 2019-05-07]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.
Torabi Moghadam B, Etemadikhah M, Rajkowska G, ..., Feuk L, Carlström EL
J Psychiatr Res 114 (-) 41-47 [2019-07-00; online 2019-04-02]
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Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes.
Pujol-Moix N, Martinez-Perez A, Sabater-Lleal M, ..., Souto JC, Soria JM
Int J Mol Sci 20 (13) - [2019-06-30; online 2019-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Allelic Variation in Taste Genes Is Associated with Taste and Diet Preferences and Dental Caries.
Eriksson L, Esberg A, Haworth S, Holgerson PL, Johansson I
Nutrients 11 (7) - [2019-06-29; online 2019-06-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Exploring Molecular Signs of Sex in the Marine Diatom Skeletonema marinoi.
Ferrante MI, Entrambasaguas L, Johansson M, ..., Montresor M, Godhe A
Genes 10 (7) - [2019-06-28; online 2019-06-28]
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Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.
Floyd JS, Bloch KM, Brody JA, ..., Alfirevic A, PREDICTION-ADR Consortium and EUDRAGENE
PLoS ONE 14 (6) e0218115 [2019-06-26; online 2019-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genomic Characterization of the Emerging Pathogen Streptococcus pseudopneumoniae.
Garriss G, Nannapaneni P, Simões AS, ..., de Lencastre H, Henriques-Normark B
MBio 10 (3) - [2019-06-25; online 2019-06-25]
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Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.
Shungin D, Haworth S, Divaris K, ..., Timpson NJ, Johansson I
Nat Commun 10 (1) 2773 [2019-06-24; online 2019-06-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Identification of Salivary Microbiota and Its Association With Host Inflammatory Mediators in Periodontitis.
Lundmark A, Hu YOO, Huss M, ..., Andersson AF, Yucel-Lindberg T
Front. Cell. Infect. Microbiol. 9 (-) 216 [2019-06-21; online 2019-06-21]
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Comparative genomics of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members emphasizing tRNA and non-coding RNA.
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Modeling Motor Neuron Resilience in ALS Using Stem Cells.
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The effect of Wolbachia on gene expression in Drosophila paulistorum and its implications for symbiont-induced host speciation.
Baião GC, Schneider DI, Miller WJ, Klasson L
BMC Genomics 20 (1) 465 [2019-06-07; online 2019-06-07]
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Spatiotemporal structure of cell fate decisions in murine neural crest
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Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
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Int. J. Cancer 144 (11) 2695-2706 [2019-06-01; online 2019-01-15]
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Unprecedented reorganization of holocentric chromosomes provides insights into the enigma of lepidopteran chromosome evolution.
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Sci Adv 5 (6) eaau3648 [2019-06-00; online 2019-06-12]
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Single-Cell RNA Sequencing of the T Helper Cell Response to House Dust Mites Defines a Distinct Gene Expression Signature in Airway Th2 Cells
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Immunity 51 (1) 169-184.e5 [2019-06-00; online 2019-06-00]
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Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
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Mol Genet Genomic Med 7 (6) e654 [2019-06-00; online 2019-03-28]
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Identification of DNA methylation patterns predisposing for an efficient response to BCG vaccination in healthy BCG-naïve subjects.
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Epigenetics 14 (6) 589-601 [2019-06-00; online 2019-04-22]
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Genetic basis of amphibian larval development along a latitudinal gradient: Gene diversity, selection and links with phenotypic variation in transcription factor C/EBP-1.
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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, ..., Lindstrand A, Nordenskjöld A
Mol Genet Genomic Med 7 (6) e666 [2019-06-00; online 2019-05-01]
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Detecting selection signatures in three Iranian sheep breeds.
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Anim Genet 50 (3) 298-302 [2019-06-00; online 2019-03-18]
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Can markers of biological age predict dependency in old age?
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Biogerontology 20 (3) 321-329 [2019-06-00; online 2019-01-21]
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A catalog of genetic loci associated with kidney function from analyses of a million individuals.
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Barcoded Consortium Infections Resolve Cell Type-Dependent Salmonella enterica Serovar Typhimurium Entry Mechanisms.
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MBio 10 (3) - [2019-05-21; online 2019-05-21]
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Ancient DNA from mastics solidifies connection between material culture and genetics of mesolithic hunter-gatherers in Scandinavia.
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Commun Biol 2 (-) 185 [2019-05-15; online 2019-05-15]
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Genetic variation in CADM2 as a link between psychological traits and obesity.
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Sci Rep 9 (1) 7339 [2019-05-14; online 2019-05-14]
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Adult Neural Progenitor Cells Transplanted into Spinal Cord Injury Differentiate into Oligodendrocytes, Enhance Myelination, and Contribute to Recovery.
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Stem Cell Reports 12 (5) 950-966 [2019-05-14; online 2019-04-25]
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Periodontal Health and Oral Microbiota in Patients with Rheumatoid Arthritis.
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J Clin Med 8 (5) - [2019-05-08; online 2019-05-08]
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Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.
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Clin. Pharmacol. Ther. - (-) - [2019-05-07; online 2019-05-07]
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Genetical Genomics of Tonic Immobility in the Chicken.
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Genes 10 (5) - [2019-05-07; online 2019-05-07]
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Sensory receptor repertoire in cyprid antennules of the barnacle Balanus improvisus.
Abramova A, Alm Rosenblad M, Blomberg A, Larsson TA
PLoS ONE 14 (5) e0216294 [2019-05-02; online 2019-05-02]
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How Linked Selection Shapes the Diversity Landscape in Ficedula Flycatchers
Rettelbach A, Nater A, Ellegren H
Genetics 212 (1) 277-285 [2019-05-01; online 2019-03-14]
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Comparative analyses identify genomic features potentially involved in the evolution of birds-of-paradise.
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Gigascience 8 (5) - [2019-05-01; online 2019-01-29]
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Chromosomal genome assembly of the ethanol production strain CBS 11270 indicates a highly dynamic genome structure in the yeast species Brettanomyces bruxellensis.
Tiukova IA, Pettersson ME, Hoeppner MP, ..., Söderberg J, Passoth V
PLoS ONE 14 (5) e0215077 [2019-05-01; online 2019-05-01]
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Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts.
Silventoinen K, Jelenkovic A, Latvala A, ..., Sørensen TIA, Kaprio J
Obesity (Silver Spring) 27 (5) 855-865 [2019-05-00; online 2019-04-05]
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PKCζ facilitates lymphatic metastatic spread of prostate cancer cells in a mice xenograft model
Zang G, Mu Y, Gao L, Bergh A, Landström M
Oncogene 38 (22) 4215-4231 [2019-05-00; online 2019-01-31]
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Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.
Kaleviste E, Saare M, Leahy TR, ..., Peterson P, Kisand K
Eur. J. Immunol. 49 (5) 790-800 [2019-05-00; online 2019-03-07]
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Genotype-free estimation of allele frequencies reduces bias and improves demographic inference from RADSeq data.
Warmuth VM, Ellegren H
Mol Ecol Resour 19 (3) 586-596 [2019-05-00; online 2019-04-17]
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Gene expression profile of extraocular muscles following resection strabismus surgery.
Rodríguez MA, Sandgren Hochhard K, Vicente A, Liu JX, Pedrosa Domellöf F
Exp. Eye Res. 182 (-) 182-193 [2019-05-00; online 2019-04-03]
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Footprints of adaptive evolution revealed by whole Z chromosomes haplotypes in flycatchers.
Nadachowska-Brzyska K, Burri R, Ellegren H
Mol. Ecol. 28 (9) 2290-2304 [2019-05-00; online 2019-05-29]
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Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J, Lindblom A, Tham E
Mol Genet Genomic Med 7 (5) e605 [2019-05-00; online 2019-02-27]
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Dynamic evolutionary history and gene content of sex chromosomes across diverse songbirds.
Xu L, Auer G, Peona V, ..., Irestedt M, Zhou Q
Nat Ecol Evol 3 (5) 834-844 [2019-05-00; online 2019-04-01]
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Asthma and affective traits in adults: a genetically informative study.
Lehto K, Pedersen NL, Almqvist C, Lu Y, Brew BK
Eur. Respir. J. 53 (5) 1802142 [2019-05-00; online 2019-05-30]
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An Atlas of Vagal Sensory Neurons and Their Molecular Specialization
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Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology.
Cui T, Enroth S, Ameur A, ..., Lindquist D, Gyllensten U
Carcinogenesis 40 (2) 269-278 [2019-04-29; online 2019-01-01]
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Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient
Helgadottir HT, Lundin P, Wallén Arzt E, ..., Graff C, Eriksson M
Hum Mol Genet 28 (16) 2675-2685 [2019-04-24; online 2019-04-24]
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PAD2-Mediated Citrullination Contributes to Efficient Oligodendrocyte Differentiation and Myelination.
Falcão AM, Meijer M, Scaglione A, ..., Casaccia P, Castelo-Branco G
Cell Rep 27 (4) 1090-1102.e10 [2019-04-23; online 2019-04-25]
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EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.
Zhang Z, Cheng H, Hong X, ..., Wang X, Hao K
Nucleic Acids Res. 47 (7) e39 [2019-04-23; online 2019-02-06]
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The complex barnacle perfume: identification of waterborne pheromone homologues in Balanus improvisus and their differential expression during settlement
Abramova A, Lind U, Blomberg A, Rosenblad MA
Biofouling 35 (4) 416-428 [2019-04-21; online 2019-05-30]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.
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Calcif. Tissue Int. - (-) - [2019-04-20; online 2019-04-20]
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RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas.
Backman S, Åkerström T, Maharjan R, ..., Hellman P, Björklund P
Sci Rep 9 (1) 6269 [2019-04-18; online 2019-04-18]
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The Genome of Blue-Capped Cordon-Bleu Uncovers Hidden Diversity of LTR Retrotransposons in Zebra Finch.
Boman J, Frankl-Vilches C, da Silva Dos Santos M, ..., Gahr M, Suh A
Genes 10 (4) - [2019-04-13; online 2019-04-13]
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
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Hum. Mol. Genet. - (-) - [2019-04-10; online 2019-04-10]
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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, ..., Freyer C, Wredenberg A
Stem Cell Reports 12 (4) 696-711 [2019-04-09; online 2019-02-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Bidirectional Selection for Body Weight on Standing Genetic Variation in a Chicken Model.
Lillie M, Honaker CF, Siegel PB, Carlborg Ö
G3 (Bethesda) 9 (4) 1165-1173 [2019-04-09; online 2019-04-09]
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SAMURAI (Solid-phase Assisted Mutagenesis by Uracil Restriction for Accurate Integration) for antibody affinity maturation and paratope mapping.
Hu FJ, Lundqvist M, Uhlén M, Rockberg J
Nucleic Acids Res. 47 (6) e34 [2019-04-08; online 2019-02-05]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A hybrid de novo genome assembly of the honeybee, Apis mellifera, with chromosome-length scaffolds.
Wallberg A, Bunikis I, Pettersson OV, ..., Robinson GE, Webster MT
BMC Genomics 20 (1) 275 [2019-04-08; online 2019-04-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis.
Maniatis S, Äijö T, Vickovic S, ..., Bonneau R, Phatnani H
Science 364 (6435) 89-93 [2019-04-05; online 2019-04-06]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M, Terhal PA, Botto LD, ..., Holthuis JC, Mäkitie O
JCI Insight 4 (7) - [2019-04-04; online 2019-04-04]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
Ferreira MAR, Mathur R, Vonk JM, ..., Koppelman GH, Almqvist C
Am. J. Hum. Genet. 104 (4) 665-684 [2019-04-04; online 2019-03-28]
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A TetR-family transcription factor regulates fatty acid metabolism in the archaeal model organism Sulfolobus acidocaldarius.
Wang K, Sybers D, Maklad HR, ..., Lindås AC, Peeters E
Nat Commun 10 (1) 1542 [2019-04-04; online 2019-04-04]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Mesenchymal stem cells transplanted into spinal cord injury adopt immune cell-like characteristics.
Hakim R, Covacu R, Zachariadis V, ..., Brundin L, Svensson M
Stem Cell Res Ther 10 (1) 115 [2019-04-03; online 2019-04-03]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Post-glacial colonization routes coincide with a life-history breakpoint along a latitudinal gradient.
Luquet E, Rödin Mörch P, Cortázar-Chinarro M, ..., Höglund J, Laurila A
J. Evol. Biol. 32 (4) 356-368 [2019-04-00; online 2019-02-14]
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Outbreak of Methicillin-resistant Staphylococcus aureus in a Hospital Center for Children's and Women's Health in a Swedish County.
Gideskog M, Melhus Å
APMIS 127 (4) 181-186 [2019-04-00; online 2019-03-26]
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Costantini A, Valta H, Baratang NV, ..., Mäkitie O, Campeau PM
Bone 121 (-) 163-171 [2019-04-00; online 2018-12-30]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11.
La Fleur L, Falk-Sörqvist E, Smeds P, ..., Moens L, Botling J
Lung Cancer 130 (-) 50-58 [2019-04-00; online 2019-01-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Bentley AR, Sung YJ, Brown MR, ..., Rotimi CN, Cupples LA
Nat. Genet. 51 (4) 636-648 [2019-04-00; online 2019-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Grigelioniene G, Suzuki HI, Taylan F, ..., Sharp PA, Kobayashi T
Nat. Med. 25 (4) 583-590 [2019-04-00; online 2019-02-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Dynamics of Resistance Plasmids in Extended-Spectrum-β-Lactamase-Producing Enterobacteriaceae during Postinfection Colonization.
Brolund A, Rajer F, Giske CG, ..., Titelman E, Sandegren L
Antimicrob. Agents Chemother. 63 (4) - [2019-04-00; online 2019-03-27]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
Rentoft M, Svensson D, Sjödin A, ..., Melin BS, Johansson E
PLoS ONE 14 (3) e0213350 [2019-03-27; online 2019-03-27]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
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A novel human in vitro papillomavirus type 16 positive tonsil cancer cell line with high sensitivity to radiation and cisplatin.
Forslund O, Sugiyama N, Wu C, ..., Wennerberg J, Ekblad L
BMC Cancer 19 (1) 265 [2019-03-25; online 2019-03-25]
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Subsequent Event Risk in Individuals with Established Coronary Heart Disease: Design and Rationale of the GENIUS-CHD Consortium.
Patel R, Tragante V, Schmidt AF, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
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Association of Chromosome 9p21 with Subsequent Coronary Heart Disease Events: A GENIUS-CHD Study of Individual Participant Data.
Patel RS, Schmidt AF, Tragante V, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
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An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
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PLoS Genet. 15 (3) e1007873 [2019-03-19; online 2019-03-19]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Extended insight into the Mycobacterium chelonae-abscessus complex through whole genome sequencing of Mycobacterium salmoniphilum outbreak and Mycobacterium salmoniphilum-like strains.
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Sci Rep 9 (1) 4603 [2019-03-14; online 2019-03-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Ancient Mitochondrial Genomes Reveal the Absence of Maternal Kinship in the Burials of Çatalhöyük People and Their Genetic Affinities.
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Genes 10 (3) - [2019-03-11; online 2019-03-11]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Single-Cell RNA-Seq Reveals Cellular Heterogeneity of Pluripotency Transition and X Chromosome Dynamics during Early Mouse Development.
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Cell Rep 26 (10) 2593-2607.e3 [2019-03-05; online 2019-03-07]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Oxygen induces the expression of invasion and stress response genes in the anaerobic salmon parasite Spironucleus salmonicida.
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BMC Biol. 17 (1) 19 [2019-03-01; online 2019-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Association of Genetic Risk Factors for Psychiatric Disorders and Traits of These Disorders in a Swedish Population Twin Sample.
Taylor MJ, Martin J, Lu Y, ..., Larsson H, Lichtenstein P
JAMA Psychiatry 76 (3) 280-289 [2019-03-01; online 2018-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
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Clin. Genet. 95 (3) 436-439 [2019-03-00; online 2018-12-07]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The high prevalence of antibiotic heteroresistance in pathogenic bacteria is mainly caused by gene amplification.
Nicoloff H, Hjort K, Levin BR, Andersson DI
Nat Microbiol 4 (3) 504-514 [2019-03-00; online 2019-02-11]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Proteomic Analysis of Endothelial Cells Exposed to Ultrasmall Nanoparticles Reveals Disruption in Paracellular and Transcellular Transport.
Kuruvilla J, Bayat N, Cristobal S
Proteomics 19 (5) e1800228 [2019-03-00; online 2019-02-25]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
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Nat. Genet. 51 (3) 452-469 [2019-03-00; online 2019-02-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
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Nat. Genet. 51 (3) 481-493 [2019-03-00; online 2019-02-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
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Ann. Rheum. Dis. 78 (3) 311-319 [2019-03-00; online 2018-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
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Nat. Genet. 51 (3) 404-413 [2019-03-00; online 2019-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Estimating the Fitness Effect of Deleterious Mutations During the Two Phases of the Life Cycle: A New Method Applied to the Root-Rot Fungus Heterobasidion parviporum.
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Genetics 211 (3) 963-976 [2019-03-00; online 2018-12-31]
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Endosperm-specific transcriptome analysis by applying the INTACT system.
Del Toro-De León G, Köhler C
Plant Reprod 32 (1) 55-61 [2019-03-00; online 2018-12-26]
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Chromosomal inversions associated with environmental adaptation in honeybees.
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Mol. Ecol. 28 (6) 1358-1374 [2019-03-00; online 2018-12-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Asexual reproduction and growth rate: independent and plastic life history traits in Neurospora crassa.
Anderson JL, Nieuwenhuis BPS, Johannesson H
ISME J 13 (3) 780-788 [2019-03-00; online 2018-11-09]
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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K
Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]
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A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate.
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Nature 567 (7747) 234-238 [2019-03-00; online 2019-02-27]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Transcriptomics of cardiac biopsies reveals differences in patients with or without diagnostic parameters for heart failure with preserved ejection fraction.
Das S, Frisk C, Eriksson MJ, ..., Linde C, Persson B
Sci Rep 9 (1) 3179 [2019-02-28; online 2019-02-28]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall lizard
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Proc Natl Acad Sci USA - (-) 201820320 [2019-02-28; online 2019-02-28]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
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Blood 133 (9) 967-977 [2019-02-28; online 2019-01-14]
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Population and Single-Cell Analysis of Human Cardiogenesis Reveals Unique LGR5 Ventricular Progenitors in Embryonic Outflow Tract.
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Dev. Cell 48 (4) 475-490.e7 [2019-02-25; online 2019-01-31]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Whole-Genome Analysis of Domestic Chicken Selection Lines Suggests Segregating Variation in ERV Makeups.
Pettersson ME, Jern P
Genes 10 (2) 162 [2019-02-20; online 2019-02-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A deep proteome and transcriptome abundance atlas of 29 healthy human tissues.
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Mol. Syst. Biol. 15 (2) e8503 [2019-02-18; online 2019-02-18]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetics and epigenetics in primary Sjögren's syndrome.
Imgenberg-Kreuz J, Rasmussen A, Sivils K, Nordmark G
Rheumatology (Oxford) - (-) - [2019-02-15; online 2019-02-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fine-Tuning of Sox17 and Canonical Wnt Coordinates the Permeability Properties of the Blood-Brain Barrier.
Corada M, Orsenigo F, Bhat GP, ..., Magnusson P, Dejana E
Circ. Res. 124 (4) 511-525 [2019-02-15; online 2018-12-29]
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Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.
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Cardiovasc. Res. - (-) - [2019-02-14; online 2019-02-14]
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Two Basidiomycete Fungi in the Cortex of Wolf Lichens.
Tuovinen V, Ekman S, Thor G, ..., Spribille T, Johannesson H
Curr. Biol. 29 (3) 476-483.e5 [2019-02-04; online 2019-01-17]
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The genomics of major psychiatric disorders in a large pedigree from Northern Sweden.
Szatkiewicz J, Crowley JJ, Adolfsson AN, ..., Adolfsson R, Sullivan PF
Transl Psychiatry 9 (1) 60 [2019-02-04; online 2019-02-04]
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Exploring the genetics of trotting racing ability in horses using a unique Nordic horse model.
Velie BD, Lillie M, Fegraeus KJ, ..., Strand E, Lindgren G
BMC Genomics 20 (1) 104 [2019-02-04; online 2019-02-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Introgression of resistance to Rhopalosiphum padi L. from wild barley into cultivated barley facilitated by doubled haploid and molecular marker techniques.
Åhman I, Bengtsson T
Theor. Appl. Genet. - (-) - [2019-02-02; online 2019-02-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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IL-6 Signaling Blockade during CD40-Mediated Immune Activation Favors Antitumor Factors by Reducing TGF-β, Collagen Type I, and PD-L1/PD-1.
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J. Immunol. 202 (3) 787-798 [2019-02-01; online 2019-01-07]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Disentangling the genetics of lean mass.
Karasik D, Zillikens MC, Hsu YH, ..., Kiel DP, Ohlsson C
Am. J. Clin. Nutr. 109 (2) 276-287 [2019-02-01; online 2019-02-06]
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Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse.
Tay N, Macare C, Liu Y, ..., Schumann G, IMAGEN Consortium
Am J Psychiatry 176 (2) 146-155 [2019-02-01; online 2018-12-11]
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Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC, Nystedt S, Leonard D, ..., Sandling JK, Syvänen AC
Hum. Genet. 138 (2) 141-150 [2019-02-00; online 2019-02-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Parental legacy, demography, and admixture influenced the evolution of the two subgenomes of the tetraploid Capsella bursa-pastoris (Brassicaceae).
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Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Longitudinal changes in the genetic and environmental influences on the epigenetic clocks across old age: Evidence from two twin cohorts.
Jylhävä J, Hjelmborg J, Soerensen M, ..., Pedersen NL, Reynolds CA
EBioMedicine 40 (-) 710-716 [2019-02-00; online 2019-01-28]
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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
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Nat. Genet. 51 (2) 245-257 [2019-02-00; online 2019-01-14]
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Eleven loci with new reproducible genetic associations with allergic disease risk
Ferreira MAR, Vonk JM, Baurecht H, ..., Koppelman GH, Paternoster L
Journal of Allergy and Clinical Immunology 143 (2) 691-699 [2019-02-00; online 2019-02-00]
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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
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PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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CD99 expression is strongly associated with clinical outcome in children with B-cell precursor acute lymphoblastic leukaemia.
Chen D, Camponeschi A, Wu Q, ..., Fogelstrand L, Mårtensson IL
Br. J. Haematol. 184 (3) 418-423 [2019-02-00; online 2018-11-28]
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Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival.
Hallberg P, Smedje H, Eriksson N, ..., Wadelius M, Swedegene
EBioMedicine - (-) - [2019-01-30; online 2019-01-30]
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Genomic regions of speciation and adaptation among three species of grouse.
Kozma R, Rödin-Mörch P, Höglund J
Sci Rep 9 (1) 812 [2019-01-28; online 2019-01-28]
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Mercury methylating microbial communities of boreal forest soils.
Xu J, Buck M, Eklöf K, ..., Bertilsson S, Bravo AG
Sci Rep 9 (1) 518 [2019-01-24; online 2019-01-24]
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Carbonic Anhydrase 6 Gene Variation influences Oral Microbiota Composition and Caries Risk in Swedish adolescents.
Esberg A, Haworth S, Brunius C, Lif Holgerson P, Johansson I
Sci Rep 9 (1) 452 [2019-01-24; online 2019-01-24]
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The ketogenic diet influences taxonomic and functional composition of the gut microbiota in children with severe epilepsy.
Lindefeldt M, Eng A, Darban H, ..., Dahlin M, Prast-Nielsen S
NPJ Biofilms Microbiomes 5 (-) 5 [2019-01-23; online 2019-01-23]
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Altered human oligodendrocyte heterogeneity in multiple sclerosis
Jäkel S, Agirre E, Falcão AM, ..., Williams A, Castelo-Branco G
Nature - (-) - [2019-01-23; online 2019-01-23]
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Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Kilpeläinen TO, Bentley AR, Noordam R, ..., Rao DC, Loos RJF
Nat Commun 10 (1) 376 [2019-01-22; online 2019-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.
Chauhan G, Adams HHH, Satizabal CL, ..., Debette S, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Neurology - (-) - [2019-01-16; online 2019-01-16]
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Transcriptomic and proteomic analyses reveal new insights into the regulation of immune pathways during adenovirus type 2 infection.
Zhao H, Chen M, Valdés A, Lind SB, Pettersson U
BMC Microbiol. 19 (1) 15 [2019-01-14; online 2019-01-14]
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Diplodia Tip Blight on Its Way to the North: Drivers of Disease Emergence in Northern Europe.
Brodde L, Adamson K, Julio Camarero J, ..., Özdağ Ş, Oliva J
Front Plant Sci 9 (-) 1818 [2019-01-09; online 2019-01-09]
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Decreased Snow Cover Stimulates Under-Ice Primary Producers but Impairs Methanotrophic Capacity.
Garcia SL, Szekely AJ, Bergvall C, Schattenhofer M, Peura S
mSphere 4 (1) - [2019-01-09; online 2019-01-09]
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Fecal pollution can explain antibiotic resistance gene abundances in anthropogenically impacted environments.
Karkman A, Pärnänen K, Larsson DGJ
Nat Commun 10 (1) 80 [2019-01-08; online 2019-01-08]
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Historical Genomes Reveal the Genomic Consequences of Recent Population Decline in Eastern Gorillas.
van der Valk T, Díez-Del-Molino D, Marques-Bonet T, Guschanski K, Dalén L
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The Versatility of SMRT Sequencing.
Hestand MS, Ameur A
Genes 10 (1) - [2019-01-04; online 2019-01-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
Morris AP, Le TH, Wu H, ..., Humphreys BD, Franceschini N
Nat Commun 10 (1) 29 [2019-01-03; online 2019-01-03]
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Tracking the Epigenetic Clock Across the Human Life Course: A Meta-analysis of Longitudinal Cohort Data.
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J. Gerontol. A Biol. Sci. Med. Sci. 74 (1) 57-61 [2019-01-01; online 2018-05-03]
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ZBED6 negatively regulates insulin production, neuronal differentiation, and cell aggregation in MIN6 cells.
Wang X, Jiang L, Wallerman O, ..., Welsh N, Andersson L
FASEB J. 33 (1) 88-100 [2019-01-00; online 2018-06-29]
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The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis.
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Single-Molecule Sequencing: Towards Clinical Applications.
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Near-complete phylogeny and taxonomic revision of the world's babblers (Aves: Passeriformes).
Cai T, Cibois A, Alström P, ..., Lei F, Fjeldså J
Mol. Phylogenet. Evol. 130 (-) 346-356 [2019-01-00; online 2018-10-12]
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Mosaic loss of chromosome Y in leukocytes matters.
Forsberg LA, Halvardson J, Rychlicka-Buniowska E, ..., Ingelsson M, Dumanski JP
Nat. Genet. 51 (1) 4-7 [2019-01-00; online 2018-10-31]
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Introducing ribosomal tandem repeat barcoding for fungi.
Wurzbacher C, Larsson E, Bengtsson-Palme J, ..., Kagami M, Nilsson RH
Mol Ecol Resour 19 (1) 118-127 [2019-01-00; online 2018-10-24]
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Genetic risk for neuroticism predicts emotional health depending on childhood adversity.
Lehto K, Karlsson I, Lundholm C, Pedersen NL
Psychol Med 49 (2) 260-267 [2019-01-00; online 2018-03-26]
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Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.
Morin A, Madore AM, Kwan T, ..., Pastinen T, Laprise C
Eur. J. Hum. Genet. 27 (1) 90-101 [2019-01-00; online 2018-09-11]
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Complete Genome Sequence of the Marine Hydrocarbon Degrader Alcaligenes aquatilis QD168, Isolated from Crude Oil-Polluted Sediment of Quintero Bay, Central Chile.
Durán RE, Barra-Sanhueza B, Salvà-Serra F, ..., Moore ERB, Seeger M
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Year 2018

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PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.
Chase A, Pellagatti A, Singh S, ..., Boultwood J, Cross NCP
Leukemia - (-) - [2018-12-20; online 2018-12-20]
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A multigene typing system for human adenoviruses reveals a new genotype in a collection of Swedish clinical isolates.
Kaján GL, Lipiec A, Bartha D, Allard A, Arnberg N
PLoS ONE 13 (12) e0209038 [2018-12-14; online 2018-12-14]
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Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals.
Elbere I, Silamikelis I, Ustinova M, ..., Schiöth HB, Klovins J
Clin Epigenetics 10 (1) 156 [2018-12-13; online 2018-12-13]
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Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR.
Taylan F, Bang B, Öfverholm II, ..., Zachariadis V, Nordgren A
Clin. Chem. - (-) - [2018-12-05; online 2018-12-05]
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PubMed DOI Crossref
A Novel Inorganic Sulfur Compound Metabolizing Ferroplasma-Like Population Is Suggested to Mediate Extracellular Electron Transfer.
Ni G, Simone D, Palma D, ..., Turner S, Dopson M
Front Microbiol 9 (-) 2945 [2018-12-05; online 2018-12-05]
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Spatially and functionally distinct subclasses of breast cancer-associated fibroblasts revealed by single cell RNA sequencing.
Bartoschek M, Oskolkov N, Bocci M, ..., Björklund Å, Pietras K
Nat Commun 9 (1) 5150 [2018-12-04; online 2018-12-04]
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Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants
Delgado-Vega AM, Martínez-Bueno M, Oparina NY, ..., Kozyrev SV, Alarcón-Riquelme ME
Sci Rep 8 (1) - [2018-12-00; online 2018-06-08]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
Walters RK, None , Polimanti R, ..., Edenberg HJ, Agrawal A
Nat Neurosci 21 (12) 1656-1669 [2018-12-00; online 2018-11-26]
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The gut microbiome participates in transgenerational inheritance of low-temperature responses in Drosophila melanogaster.
Zare A, Johansson AM, Karlsson E, Delhomme N, Stenberg P
FEBS Lett. 592 (24) 4078-4086 [2018-12-00; online 2018-11-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The Mutant p53-Targeting Compound APR-246 Induces ROS-Modulating Genes in Breast Cancer Cells.
Synnott NC, Madden SF, Bykov VJN, ..., Wiman KG, Duffy MJ
Transl Oncol 11 (6) 1343-1349 [2018-12-00; online 2018-09-06]
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T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients
Houtman M, Ekholm L, Hesselberg E, ..., Lundberg IE, Padyukov L
Arthritis Res. Ther. 20 (1) - [2018-12-00; online 2018-08-29]
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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.
Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N
Eur. J. Hum. Genet. 26 (12) 1871-1874 [2018-12-00; online 2018-09-24]
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Somatic mutagenesis in satellite cells associates with human skeletal muscle aging
Franco I, Johansson A, Olsson K, ..., Fischer H, Eriksson M
Nat Commun 9 (1) - [2018-12-00; online 2018-02-23]
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Sharing of photobionts in sympatric populations of Thamnolia and Cetraria lichens: evidence from high-throughput sequencing
Onuț-Brännström I, Benjamin M, Scofield DG, ..., Lindström ES, Johannesson H
Sci Rep 8 (1) - [2018-12-00; online 2018-03-13]
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RNA-sequencing reveals long-term effects of silver nanoparticles on human lung cells
Gliga AR, Di Bucchianico S, Lindvall J, Fadeel B, Karlsson HL
Sci Rep 8 (1) - [2018-12-00; online 2018-04-27]
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Molecular Investigation of the Ciliate Spirostomum semivirescens, with First Transcriptome and New Geographical Records
Hines HN, Onsbring H, Ettema TJG, Esteban GF
Protist 169 (6) 875-886 [2018-12-00; online 2018-12-00]
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Linking FOXO3, NCOA3, and TCF7L2 to Ras pathway phenotypes through a genome-wide forward genetic screen in human colorectal cancer cells
Kundu S, Ali MA, Handin N, ..., Hellström M, Sjöblom T
Genome Med 10 (1) - [2018-12-00; online 2018-01-04]
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Individual Genetic Variation Might Predict Acute Skin Reactions in Women Undergoing Adjuvant Breast Cancer Radiotherapy.
Oliva D, Nilsson M, Strandéus M, ..., Laytragoon-Lewin N, Lewin F
Anticancer Res. 38 (12) 6763-6770 [2018-12-00; online 2018-12-07]
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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Lundberg ES
Clin. Genet. 94 (6) 528-537 [2018-12-00; online 2018-10-15]
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Genomes from uncultivated prokaryotes: a comparison of metagenome-assembled and single-amplified genomes
Alneberg J, Karlsson CMG, Divne AM, ..., Andersson AF, Pinhassi J
Microbiome 6 (1) - [2018-12-00; online 2018-09-28]
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Genome sequencing and conservation genomics in the Scandinavian wolverine population
Ekblom R, Brechlin B, Persson J, ..., Flagstad Ø, Ellegren H
Conservation Biology 32 (6) 1301-1312 [2018-12-00; online 2018-09-07]
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Genetic characterization of a novel picorna-like virus in Culex spp. mosquitoes from Mozambique
Cholleti H, Hayer J, Fafetine J, Berg M, Blomström AL
Virol J 15 (1) - [2018-12-00; online 2018-04-18]
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Gene expression correlated with delay in shell formation in larval Pacific oysters (Crassostrea gigas) exposed to experimental ocean acidification provides insights into shell formation mechanisms
De Wit P, Durland E, Ventura A, Langdon CJ
BMC Genomics 19 (1) - [2018-12-00; online 2018-02-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
Franceschini N, None , Giambartolomei C, ..., Casas JP, O’Donnell CJ
Nat Commun 9 (1) - [2018-12-00; online 2018-12-03]
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Exploring benzimidazole resistance in Haemonchus contortus by next generation sequencing and droplet digital PCR
Baltrušis P, Halvarsson P, Höglund J
International Journal for Parasitology: Drugs and Drug Resistance 8 (3) 411-419 [2018-12-00; online 2018-12-00]
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Epigenetics and early domestication: differences in hypothalamic DNA methylation between red junglefowl divergently selected for high or low fear of humans
Bélteky J, Agnvall B, Bektic L, ..., Jensen P, Guerrero-Bosagna C
Genet. Sel. Evol. 50 (1) - [2018-12-00; online 2018-04-02]
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Effects of predation stress and food ration on perch gut microbiota
Zha Y, Eiler A, Johansson F, Svanbäck R
Microbiome 6 (1) - [2018-12-00; online 2018-02-06]
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Convergent evolution of complex genomic rearrangements in two fungal meiotic drive elements
Svedberg J, Hosseini S, Chen J, ..., Lascoux M, Johannesson H
Nat Commun 9 (1) - [2018-12-00; online 2018-10-12]
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Comprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival
Maharjan R, Backman S, Åkerström T, Hellman P, Björklund P
Sci Rep 8 (1) 8610 [2018-12-00; online 2018-06-05]
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Comparative omics and feeding manipulations in chicken indicate a shift of the endocrine role of visceral fat towards reproduction
Bornelöv S, Seroussi E, Yosefi S, ..., Andersson L, Friedman-Einat M
BMC Genomics 19 (1) - [2018-12-00; online 2018-04-26]
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Analysis of porcine body size variation using re-sequencing data of miniature and large pigs
Reimer C, Rubin CJ, Sharifi AR, ..., Schlather M, Simianer H
BMC Genomics 19 (1) - [2018-12-00; online 2018-09-19]
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A major locus controls local adaptation and adaptive life history variation in a perennial plant
Wang J, Ding J, Tan B, ..., Street NR, Ingvarsson PK
Genome Biol. 19 (1) - [2018-12-00; online 2018-06-04]
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A comprehensive map coupling histone modifications with gene regulation in adult dopaminergic and serotonergic neurons
Södersten E, Toskas K, Rraklli V, ..., Perlmann T, Holmberg J
Nat Commun 9 (1) - [2018-12-00; online 2018-03-26]
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Depth and Dissolved Organic Carbon Shape Microbial Communities in Surface Influenced but Not Ancient Saline Terrestrial Aquifers.
Lopez-Fernandez M, Åström M, Bertilsson S, Dopson M
Front Microbiol 9 (-) 2880 [2018-11-27; online 2018-11-27]
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Out in the Cold: Identification of Genomic Regions Associated With Cold Tolerance in the Biocontrol Fungus Clonostachys rosea Through Genome-Wide Association Mapping.
Broberg M, Dubey M, Sun MH, ..., Brandström Durling M, Karlsson M
Front Microbiol 9 (-) 2844 [2018-11-22; online 2018-11-22]
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Metatranscriptomes Reveal That All Three Domains of Life Are Active but Are Dominated by Bacteria in the Fennoscandian Crystalline Granitic Continental Deep Biosphere
Lopez-Fernandez M, Simone D, Wu X, ..., Bertilsson S, Dopson M
MBio 9 (6) - [2018-11-20; online 2018-11-20]
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Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity
Marklund M, Morris A, Mahajan A, ..., Lind L, Risérus U
Nutrients 10 (11) 1791 [2018-11-17; online 2018-11-17]
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Expression profiling and in situ screening of circular RNAs in human tissues.
Zaghlool A, Ameur A, Wu C, ..., Nilsson M, Feuk L
Sci Rep 8 (1) 16953 [2018-11-16; online 2018-11-16]
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Diazotrophs and N2-Fixation Associated With Particles in Coastal Estuarine Waters.
Pedersen JN, Bombar D, Paerl RW, Riemann L
Front Microbiol 9 (-) 2759 [2018-11-16; online 2018-11-16]
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Diet-dependent gene expression highlights the importance of Cytochrome P450 in detoxification of algal secondary metabolites in a marine isopod.
De Wit P, Yamada K, Panova M, André C, Johannesson K
Sci Rep 8 (1) 16824 [2018-11-14; online 2018-11-14]
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Comparative Analysis of the Nodule Transcriptomes of Ceanothus thyrsiflorus (Rhamnaceae, Rosales) and Datisca glomerata (Datiscaceae, Cucurbitales).
Salgado MG, van Velzen R, Nguyen TV, ..., Lundin D, Pawlowski K
Front Plant Sci 9 (-) 1629 [2018-11-14; online 2018-11-14]
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Integrative Analysis of Three RNA Sequencing Methods Identifies Mutually Exclusive Exons of MADS-Box Isoforms During Early Bud Development in Picea abies
Akhter S, Kretzschmar WW, Nordal V, ..., Emanuelsson O, Sundström JF
Front Plant Sci 9 (-) - [2018-11-13; online 2018-11-13]
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Parallel plumage colour evolution and introgressive hybridization in wheatears.
Schweizer M, Warmuth V, Alaei Kakhki N, ..., Suh A, Burri R
J. Evol. Biol. - (-) - [2018-11-12; online 2018-11-12]
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Disease-specific oligodendrocyte lineage cells arise in multiple sclerosis
Falcão AM, van Bruggen D, Marques S, ..., Guerreiro-Cacais AO, Castelo-Branco G
Nat Med - (-) - [2018-11-12; online 2018-11-12]
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Computational and Statistical Analysis of Array-Based DNA Methylation Data.
Nordlund J, Bäcklin C, Raine A
Methods Mol. Biol. 1878 (-) 173-191 [2018-11-01; online 2018-11-01]
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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A
PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]
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Notch signaling promotes a HIF2α-driven hypoxic response in multiple tumor cell types.
Mutvei AP, Landor SK, Fox R, ..., Jin S, Lendahl U
Oncogene 37 (46) 6083-6095 [2018-11-00; online 2018-07-11]
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Genomes of two archaeal endosymbionts show convergent adaptations to an intracellular lifestyle
Lind AE, Lewis WH, Spang A, ..., Embley TM, Ettema TJG
ISME J 12 (11) 2655-2667 [2018-11-00; online 2018-07-10]
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
Ligthart S, Vaez A, Võsa U, ..., Frayling TM, Slagboom EP
The American Journal of Human Genetics 103 (5) 691-706 [2018-11-00; online 2018-11-00]
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Mahajan A, Taliun D, Thurner M, ..., Boehnke M, McCarthy MI
Nat. Genet. 50 (11) 1505-1513 [2018-11-00; online 2018-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Barcoded solid-phase RNA capture for Spatial Transcriptomics profiling in mammalian tissue sections.
Salmén F, Ståhl PL, Mollbrink A, ..., Frisén J, Lundeberg J
Nat Protoc 13 (11) 2501-2534 [2018-11-00; online 2018-10-26]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Gene-level associations in suicide attempter families show overrepresentation of synaptic genes and genes differentially expressed in brain development
Sokolowski M, Wasserman J, Wasserman D
Am. J. Med. Genet. - (-) - [2018-10-31; online 2018-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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SMAD4 Is Essential for Human Cardiac Mesodermal Precursor Cell Formation.
Xu J, Gruber PJ, Chien KR
Stem Cells - (-) - [2018-10-30; online 2018-10-30]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Cigarette smoking affects microRNAs and inflammatory biomarkers in healthy individuals and an association to single nucleotide polymorphisms is indicated
Andersson BÅ, Sayardoust S, Löfgren S, Rutqvist LE, Laytragoon-Lewin N
Biomarkers - (-) 1-17 [2018-10-30; online 2018-10-30]
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PubMed DOI Crossref
Functional and evolutionary genomic inferences in Populus through genome and population sequencing of American and European aspen
Lin YC, Wang J, Delhomme N, ..., Ingvarsson PK, Street NR
Proc Natl Acad Sci USA - (-) 201801437 [2018-10-29; online 2018-10-29]
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Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63.
Tanaka N, Katayama S, Reddy A, ..., Oya M, Uhlén P
Cancer Med - (-) - [2018-10-26; online 2018-10-26]
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Single-Stranded Nucleic Acids Regulate TLR3/4/7 Activation through Interference with Clathrin-Mediated Endocytosis.
Järver P, Dondalska A, Poux C, ..., LeGrand R, Spetz AL
Sci Rep 8 (1) 15841 [2018-10-26; online 2018-10-26]
Global Proteomics and Proteogenomics [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-Cell Transcriptomics of Traced Epidermal and Hair Follicle Stem Cells Reveals Rapid Adaptations during Wound Healing.
Joost S, Jacob T, Sun X, ..., Sur I, Kasper M
Cell Rep 25 (3) 585-597.e7 [2018-10-16; online 2018-10-18]
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Spatially Resolved Transcriptomics Enables Dissection of Genetic Heterogeneity in Stage III Cutaneous Malignant Melanoma
Thrane K, Eriksson H, Maaskola J, Hansson J, Lundeberg J
Cancer Res 78 (20) 5970-5979 [2018-10-15; online 2018-10-15]
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Transcriptomic and genomic profiling of early-stage ovarian carcinomas associated with histotype and overall survival.
Engqvist H, Parris TZ, Rönnerman EW, ..., Karlsson P, Helou K
Oncotarget 9 (80) 35162-35180 [2018-10-12; online 2018-10-12]
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Dynamics of a Perturbed Microbial Community during Thermophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds
Šafarič L, Shakeri Yekta S, Liu T, ..., Bastviken D, Björn A
Microorganisms 6 (4) 105 [2018-10-11; online 2018-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.
Ameur A, Che H, Martin M, ..., Feuk L, Gyllensten U
Genes 9 (10) 486 [2018-10-09; online 2018-10-09]
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Enhanced validation of antibodies for research applications.
Edfors F, Hober A, Linderbäck K, ..., Forsström B, Uhlen M
Nat Commun 9 (1) 4130 [2018-10-08; online 2018-10-08]
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Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It
Bolívar P, Mugal CF, Rossi M, ..., Dutoit L, Ellegren H
- 35 (10) 2475-2486 [2018-10-01; online 2018-08-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Rapid Increase in Carriage Rates of Enterobacteriaceae Producing Extended-Spectrum β-Lactamases in Healthy Preschool Children, Sweden
Kaarme J, Riedel H, Schaal W, ..., Nevéus T, Melhus Å
Emerg. Infect. Dis. 24 (10) 1874-1881 [2018-10-00; online 2018-10-00]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Partial genomic survival of cave bears in living brown bears.
Barlow A, Cahill JA, Hartmann S, ..., Shapiro B, Hofreiter M
Nat Ecol Evol 2 (10) 1563-1570 [2018-10-00; online 2018-08-27]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia.
Gunnarsson R, Dilorenzo S, Lundin-Ström KB, ..., Isaksson A, Johansson B
Leukemia 32 (10) 2117-2125 [2018-10-00; online 2018-03-12]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide binding of transcription factor ZEB1 in triple-negative breast cancer cells.
Maturi V, Enroth S, Heldin CH, Moustakas A
J. Cell. Physiol. 233 (10) 7113-7127 [2018-10-00; online 2018-05-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genetic architecture of traits associated with reproductive barriers in Silene: Coupling, sex chromosomes and variation.
Liu X, Karrenberg S
Mol. Ecol. 27 (19) 3889-3904 [2018-10-00; online 2018-04-29]
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Sci Adv 4 (10) eaat4457 [2018-10-00; online 2018-10-03]
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Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins
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Epigenetics - (-) - [2018-09-28; online 2018-09-28]
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High-throughput metabarcoding reveals the effect of physicochemical soil properties on soil and litter biodiversity and community turnover across Amazonia.
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PeerJ 6 (-) e5661 [2018-09-25; online 2018-09-25]
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Genotyping of Phytophthora infestans in eastern-Africa reveals a dominating invasive European lineage
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Phytopathology - (-) - [2018-09-25; online 2018-09-25]
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Methanogens and Iron-Reducing Bacteria: the Overlooked Members of Mercury-Methylating Microbial Communities in Boreal Lakes
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Appl Environ Microbiol 84 (23) - [2018-09-21; online 2018-11-15]
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SWI/SNF interacts with cleavage and polyadenylation factors and facilitates pre-mRNA 3' end processing.
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Nucleic Acids Res. 46 (16) 8557-8573 [2018-09-19; online 2018-06-04]
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Neuronal heterogeneity and stereotyped connectivity in the auditory afferent system.
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Nat Commun 9 (1) 3691 [2018-09-12; online 2018-09-12]
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The all-intracellular order Legionellales is unexpectedly diverse, globally distributed and lowly abundant
Graells T, Ishak H, Larsson M, Guy L
FEMS Microbiol. Ecol. - (-) - [2018-09-10; online 2018-09-10]
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Genomic and Strontium Isotope Variation Reveal Immigration Patterns in a Viking Age Town.
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Curr. Biol. 28 (17) 2730-2738.e10 [2018-09-10; online 2018-08-23]
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Contribution of allelic imbalance to colorectal cancer.
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Nat Commun 9 (1) 3664 [2018-09-10; online 2018-09-10]
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A New Species of the γ-Proteobacterium Francisella, F. adeliensis Sp. Nov., Endocytobiont in an Antarctic Marine Ciliate and Potential Evolutionary Forerunner of Pathogenic Species
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Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
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Draft Genome Sequence for the Tree Pathogen Phytophthora plurivora.
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Genome Biol Evol 10 (9) 2432-2442 [2018-09-01; online 2018-09-01]
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Complex Evolutionary History of Translation Elongation Factor 2 and Diphthamide Biosynthesis in Archaea and Parabasalids
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Genome Biol Evol 10 (9) 2380-2393 [2018-09-01; online 2018-08-27]
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The molecular genetic basis of herbivory between butterflies and their host plants.
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Nat Ecol Evol 2 (9) 1418-1427 [2018-09-00; online 2018-08-03]
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The Protozoan Parasite Toxoplasma gondii Selectively Reprograms the Host Cell Translatome.
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Infect. Immun. 86 (9) - [2018-09-00; online 2018-08-22]
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Sex-biased gene expression, sexual antagonism and levels of genetic diversity in the collared flycatcher (Ficedula albicollis) genome
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Mol Ecol 27 (18) 3572-3581 [2018-09-00; online 2018-09-04]
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Phylogenetic relationships of rollers (Coraciidae) based on complete mitochondrial genomes and fifteen nuclear genes.
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Mol. Phylogenet. Evol. 126 (-) 17-22 [2018-09-00; online 2018-04-06]
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Lack of thinning effects over inter-annual changes in soil fungal community and diversity in a Mediterranean pine forest
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Forest Ecology and Management 424 (-) 420-427 [2018-09-00; online 2018-09-00]
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Genome Sequence Resource for the Oomycete Taro Pathogen Phytophthora colocasiae.
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Mol. Plant Microbe Interact. 31 (9) 903-905 [2018-09-00; online 2018-08-03]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.
Höijer I, Tsai YC, Clark TA, ..., Gyllensten U, Ameur A
Hum. Mutat. 39 (9) 1262-1272 [2018-09-00; online 2018-07-12]
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Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
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Calcif Tissue Int 103 (3) 353-358 [2018-09-00; online 2018-03-23]
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Sequentially acting SOX proteins orchestrate astrocyte‐ and oligodendrocyte‐specific gene expression
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EMBO Rep. - (-) e46635 [2018-08-30; online 2018-08-30]
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Patient-derived xenograft models reveal intratumor heterogeneity and temporal stability in neuroblastoma
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Cancer Res - (-) canres.0527.2018 [2018-08-28; online 2018-08-28]
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Novel genome and genome-wide SNPs reveal early fragmentation effects in an edge-tolerant songbird population across an urbanized tropical metropolis.
Tan DJX, Chattopadhyay B, Garg KM, ..., Irestedt M, Rheindt FE
Sci Rep 8 (1) 12804 [2018-08-24; online 2018-08-24]
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Reduced expression of PROX1 transitions glioblastoma cells into a mesenchymal gene expression subtype
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Cancer Res - (-) canres.0320.2018 [2018-08-22; online 2018-08-22]
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Single-cell RNA sequencing of mouse brain and lung vascular and vessel-associated cell types.
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Sci Data 5 (1) 180160 [2018-08-21; online 2018-08-21]
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Transcriptional Convergence of Oligodendrocyte Lineage Progenitors during Development.
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Dev. Cell 46 (4) 504-517.e7 [2018-08-20; online 2018-08-02]
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BtsCI and BseGI display sequence preference in the nucleotides flanking the recognition sequence
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PLoS ONE 13 (8) e0202057 [2018-08-17; online 2018-08-17]
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Novel Autotrophic Organisms Contribute Significantly to the Internal Carbon Cycling Potential of a Boreal Lake
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MBio 9 (4) - [2018-08-14; online 2018-08-14]
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Extensive genomic diversity among Mycobacterium marinum strains revealed by whole genome sequencing
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Sci. Rep. 8 (1) - [2018-08-13; online 2018-08-13]
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Stationary and portable sequencing-based approaches for tracing wastewater contamination in urban stormwater systems.
Hu YOO, Ndegwa N, Alneberg J, ..., Fagerberg J, Andersson AF
Sci Rep 8 (1) 11907 [2018-08-09; online 2018-08-09]
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Molecular Architecture of the Mouse Nervous System.
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Cell 174 (4) 999-1014.e22 [2018-08-09; online 2018-08-11]
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Clonal relatedness in tumour pairs of breast cancer patients.
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Breast Cancer Res. 20 (1) 96 [2018-08-09; online 2018-08-09]
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Modeling the structural implications of an alternatively spliced Exoc3l2, a paralog of the tunneling nanotube-forming M-Sec
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PLoS ONE 13 (8) e0201557 [2018-08-07; online 2018-08-07]
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Huntingtin Aggregation Impairs Autophagy, Leading to Argonaute-2 Accumulation and Global MicroRNA Dysregulation.
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Cell Rep 24 (6) 1397-1406 [2018-08-07; online 2018-08-09]
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A genetic map of ostrich Z chromosome and the role of inversions in avian sex chromosome evolution.
Papoli Yazdi H, Ellegren H
Genome Biol Evol - (-) - [2018-08-07; online 2018-08-07]
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Sample size effects on the assessment of eukaryotic diversity and community structure in aquatic sediments using high-throughput sequencing.
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Sci Rep 8 (1) 11737 [2018-08-06; online 2018-08-06]
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Substrate-Induced Response in Biogas Process Performance and Microbial Community Relates Back to Inoculum Source
Liu T, Sun L, Nordberg Å, Schnürer A
Microorganisms 6 (3) 80 [2018-08-05; online 2018-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Contrasting distribution patterns between aquatic and terrestrial Phytophthora species along a climatic gradient are linked to functional traits
Redondo MA, Boberg J, Stenlid J, Oliva J
ISME J - (-) - [2018-08-02; online 2018-08-02]
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Investigation of viable taxa in the deep terrestrial biosphere suggests high rates of nutrient recycling
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FEMS Microbiol. Ecol. 94 (8) - [2018-08-01; online 2018-06-19]
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Stereotypic Immune System Development in Newborn Children
Olin A, Henckel E, Chen Y, ..., Bohlin K, Brodin P
Cell 174 (5) 1277-1292.e14 [2018-08-00; online 2018-08-00]
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Sex-specific manifestation of genetic risk for attention deficit hyperactivity disorder in the general population.
Martin J, Taylor MJ, Rydell M, ..., Thapar A, Lichtenstein P
J Child Psychol Psychiatry 59 (8) 908-916 [2018-08-00; online 2018-02-16]
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La Manno G, Soldatov R, Zeisel A, ..., Linnarsson S, Kharchenko PV
Nature 560 (7719) 494-498 [2018-08-00; online 2018-08-08]
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Proteome‐wide analysis of phospho‐regulated PDZ domain interactions
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Mol. Syst. Biol. 14 (8) e8129 [2018-08-00; online 2018-08-20]
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Prenatal arsenic exposure is associated with increased plasma IGFBP3 concentrations in 9-year-old children partly via changes in DNA methylation.
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Arch. Toxicol. 92 (8) 2487-2500 [2018-08-00; online 2018-06-08]
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
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Nat. Genet. 50 (8) 1112-1121 [2018-08-00; online 2018-07-23]
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Epigenetics in pediatric acute lymphoblastic leukemia.
Nordlund J, Syvänen AC
Semin. Cancer Biol. 51 (-) 129-138 [2018-08-00; online 2017-09-05]
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Data on the nucleotide composition of the first codons encoding the complementary determining region 3 (CDR3) in immunoglobulin heavy chains.
Thörnqvist L, Ohlin M
Data Brief 19 (-) 337-352 [2018-08-00; online 2018-05-04]
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Coupling biogeochemical process rates and metagenomic blueprints of coastal bacterial assemblages in the context of environmental change.
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Environ. Microbiol. 20 (8) 3083-3099 [2018-08-00; online 2018-09-19]
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Comprehensive RNA sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for Duchenne Muscular Dystrophy
Coenen-Stass AML, Sork H, Gatto S, ..., Wood MJA, Roberts TC
Mol Ther Nucleic Acids - (-) - [2018-08-00; online 2018-08-00]
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Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height.
Lin Y, van Duyvenvoorde HA, Liu H, ..., Wit JM, Larsson O
Eur. J. Endocrinol. 179 (2) 85-95 [2018-08-00; online 2018-05-22]
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Acute sleep loss results in tissue-specific alterations in genome-wide DNA methylation state and metabolic fuel utilization in humans
Cedernaes J, Schönke M, Westholm JO, ..., Zierath JR, Benedict C
Sci Adv 4 (8) eaar8590 [2018-08-00; online 2018-08-22]
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BARM and BalticMicrobeDB, a reference metagenome and interface to meta-omic data for the Baltic Sea.
Alneberg J, Sundh J, Bennke C, ..., Labrenz M, Andersson AF
Sci Data 5 (-) 180146 [2018-07-31; online 2018-07-31]
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Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat.
Sigeman H, Ponnikas S, Videvall E, ..., Naurin S, Hansson B
Genes 9 (8) 373 [2018-07-26; online 2018-07-26]
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Response of Microbial Communities to Changing Climate Conditions During Summer Cyanobacterial Blooms in the Baltic Sea.
Berner C, Bertos-Fortis M, Pinhassi J, Legrand C
Front Microbiol 9 (-) 1562 [2018-07-25; online 2018-07-25]
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A patient-derived xenograft pre-clinical trial reveals treatment responses and a resistance mechanism to karonudib in metastatic melanoma.
Einarsdottir BO, Karlsson J, Söderberg EMV, ..., Helleday T, Nilsson JA
Cell Death Dis 9 (8) 810 [2018-07-24; online 2018-07-24]
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The psoriasis risk allele HLA-Cw0602 shows evidence of association with chronic or recurrent streptococcal tonsillitis.
Haapasalo K, Koskinen LLE, Suvilehto J, ..., Jokiranta TS, Saavalainen P
Infect. Immun. - (-) - [2018-07-23; online 2018-07-23]
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Characterisation of the Virome of Tonsils from Conventional Pigs and from Specific Pathogen-Free Pigs
Blomström AL, Ye X, Fossum C, Wallgren P, Berg M
Viruses 10 (7) 382 [2018-07-20; online 2018-07-20]
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Spring and Late Summer Phytoplankton Biomass Impact on the Coastal Sediment Microbial Community Structure.
Broman E, Li L, Fridlund J, ..., Legrand C, Dopson M
Microb. Ecol. - (-) - [2018-07-17; online 2018-07-17]
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Heterogeneity and interplay of the extracellular vesicle small RNA transcriptome and proteome.
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Sci Rep 8 (1) 10813 [2018-07-17; online 2018-07-17]
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SECAPR—a bioinformatics pipeline for the rapid and user-friendly processing of targeted enriched Illumina sequences, from raw reads to alignments
Andermann T, Cano Á, Zizka A, Bacon C, Antonelli A
PeerJ 6 (-) e5175 [2018-07-13; online 2018-07-13]
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Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
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Br. J. Haematol. - (-) - [2018-07-13; online 2018-07-13]
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Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.
Baskaran S, Mayrhofer M, Kultima HG, ..., Isaksson A, Nelander S
Neuro-oncology 20 (8) 1080-1091 [2018-07-05; online 2018-02-21]
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Nucleic Acids Res. 46 (W1) W163-W170 [2018-07-02; online 2018-06-13]
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PubMed DOI Crossref
The mycoparasitic fungus Clonostachys rosea responds with both common and specific gene expression during interspecific interactions with fungal prey
Nygren K, Dubey M, Zapparata A, ..., Jensen DF, Karlsson M
Evol Appl 11 (6) 931-949 [2018-07-00; online 2018-03-14]
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PubMed DOI Crossref
The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE.
Hagberg N, Joelsson M, Leonard D, ..., Bryceson YT, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1070-1077 [2018-07-00; online 2018-02-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
Leonard D, Svenungsson E, Dahlqvist J, ..., Criswell LA, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1063-1069 [2018-07-00; online 2018-03-07]
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PubMed DOI Crossref
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Savage JE, Jansen PR, Stringer S, ..., Wright MJ, Posthuma D
Nat. Genet. 50 (7) 912-919 [2018-07-00; online 2018-06-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detection of novel syntrophic acetate-oxidizing bacteria from biogas processes by continuous acetate enrichment approaches.
Westerholm M, Müller B, Singh A, Karlsson Lindsjö O, Schnürer A
Microb Biotechnol 11 (4) 680-693 [2018-07-00; online 2017-12-04]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete genome sequence of the marine Rhodococcus sp. H-CA8f isolated from Comau fjord in Northern Patagonia, Chile.
Undabarrena A, Salvà-Serra F, Jaén-Luchoro D, ..., Seeger M, Cámara B
Marine Genomics 40 (-) 13-17 [2018-07-00; online 2018-02-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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CRISPR-Cas9 genome editing induces a p53-mediated DNA damage response.
Haapaniemi E, Botla S, Persson J, Schmierer B, Taipale J
Nat. Med. 24 (7) 927-930 [2018-07-00; online 2018-06-11]
CRISPR Functional Genomics [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Protein Science Facility (PSF) [Service]
PubMed DOI Crossref
The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology.
Brikell I, Larsson H, Lu Y, ..., Lichtenstein P, Martin J
Mol. Psychiatry - (-) - [2018-06-22; online 2018-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Spatial maps of prostate cancer transcriptomes reveal an unexplored landscape of heterogeneity
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Nat Commun 9 (1) 2419 [2018-06-20; online 2018-06-20]
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PubMed DOI Crossref
Gene expression profiling of periodontitis-affected gingival tissue by spatial transcriptomics.
Lundmark A, Gerasimcik N, Båge T, ..., Lundeberg J, Yucel-Lindberg T
Sci Rep 8 (1) 9370 [2018-06-19; online 2018-06-19]
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PubMed DOI Crossref
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Feitosa MF, Kraja AT, Chasman DI, ..., Province MA, Levy D
PLoS ONE 13 (6) e0198166 [2018-06-18; online 2018-06-18]
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Investigating Holocene human population history in North Asia using ancient mitogenomes.
Kılınç GM, Kashuba N, Yaka R, ..., Storå J, Götherström A
Sci Rep 8 (1) 8969 [2018-06-12; online 2018-06-12]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli C, Chaffin MD, Weng LC, ..., Lunetta KL, Ellinor PT
Nat. Genet. 50 (9) 1225-1233 [2018-06-11; online 2018-06-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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High similarity in the microbiota of cold-water sponges of the Genus
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PeerJ 6 (-) e4935 [2018-06-07; online 2018-06-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer
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Nat Genet 50 (7) 944-950 [2018-06-04; online 2018-06-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Presence of Aedes and Anopheles mosquito larvae is correlated to bacteria found in domestic water-storage containers
Nilsson LKJ, Sharma A, Bhatnagar RK, Bertilsson S, Terenius O
FEMS Microbiol. Ecol. 94 (6) - [2018-06-01; online 2018-03-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Deciphering the genome and secondary metabolome of the plant pathogen Fusarium culmorum
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FEMS Microbiol. Ecol. 94 (6) - [2018-06-01; online 2018-04-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Testis transcriptome alterations in zebrafish (Danio rerio) with reduced fertility due to developmental exposure to 17α-ethinyl estradiol
Porseryd T, Reyhanian Caspillo N, Volkova K, ..., Olsson PE, Porsch-Hällström I
General and Comparative Endocrinology 262 (-) 44-58 [2018-06-00; online 2018-06-00]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Paternally expressed imprinted genes associate with hybridization barriers in Capsella
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NPLANTS 4 (6) 352-357 [2018-06-00; online 2018-05-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Neuronal atlas of the dorsal horn defines its architecture and links sensory input to transcriptional cell types.
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Nat. Neurosci. 21 (6) 869-880 [2018-06-00; online 2018-04-23]
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PubMed DOI Crossref
Genomewide binding of transcription factor Snail1 in triple-negative breast cancer cells
Maturi V, Morén A, Enroth S, Heldin CH, Moustakas A
Mol Oncol 12 (7) 1153-1174 [2018-06-00; online 2018-05-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Stattin EL, Johansson J, Gudmundsson S, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 176 (6) 1405-1410 [2018-06-00; online 2018-04-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed
A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.
Pasandideh M, Rahimi-Mianji G, Gholizadeh M
J. Genet. 97 (2) 493-503 [2018-06-00; online 2018-06-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.
Parker WAE, Eriksson N, Becker RC, ..., Storey RF, PLATO Investigators
Platelets - (-) 1-10 [2018-05-31; online 2018-05-31]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of SNPs for individual identification by reduced representation sequencing of moose (Alces alces).
Blåhed IM, Königsson H, Ericsson G, Spong G
PLoS ONE 13 (5) e0197364 [2018-05-30; online 2018-05-30]
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PubMed DOI Crossref
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
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Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]
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PubMed DOI Crossref
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Davies G, Lam M, Harris SE, ..., Lencz T, Deary IJ
Nat Commun 9 (1) 2098 [2018-05-29; online 2018-05-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SWI/SNF regulates half of its targets without the need of ATP-driven nucleosome remodeling by Brahma.
Jordán-Pla A, Yu S, Waldholm J, ..., Östlund Farrants AK, Visa N
BMC Genomics 19 (1) 367 [2018-05-18; online 2018-05-18]
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PubMed DOI Crossref
A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia.
Chen X, Gustafsson S, Whitington T, ..., Frostegård J, Magnusson PKE
Hum. Mol. Genet. 27 (10) 1809-1818 [2018-05-15; online 2018-03-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic analysis of the harvested endothelial cells in a swine model of mechanical thrombectomy.
Jaff N, Grankvist R, Muhl L, ..., Eriksson U, Holmin S
Neuroradiology - (-) - [2018-05-14; online 2018-05-14]
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PubMed DOI Crossref
Soil microclimate changes affect soil fungal communities in a Mediterranean pine forest
Castaño C, Lindahl BD, Alday JG, ..., Pera J, Bonet JA
New Phytol - (-) - [2018-05-14; online 2018-05-14]
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PubMed DOI Crossref
Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.
Zhou A, Taylor AE, Karhunen V, ..., Llewellyn DJ, Hyppönen E
Sci Rep 8 (1) 7526 [2018-05-14; online 2018-05-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide multi-omics profiling of the 8p11-p12 amplicon in breast carcinoma.
Parris TZ, Rönnerman EW, Engqvist H, ..., Karlsson P, Helou K
Oncotarget 9 (35) 24140-24154 [2018-05-08; online 2018-05-08]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.
de Oliveira Otto MC, Lemaitre RN, Sun Q, ..., Siscovick DS, Mozaffarian D
PLoS ONE 13 (5) e0196951 [2018-05-08; online 2018-05-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The GTPase domain of gamma-tubulin is required for normal mitochondrial function and spatial organization.
Lindström L, Li T, Malycheva D, ..., Rosselló CA, Alvarado-Kristensson M
Commun Biol 1 (1) 37 [2018-05-03; online 2018-05-03]
Integrated Microscopy Technologies Gothenburg [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
O6-methylguanine–induced transcriptional mutagenesis reduces p53 tumor-suppressor function
Ezerskyte M, Paredes JA, Malvezzi S, ..., Scicchitano DA, Dreij K
Proc. Natl. Acad. Sci. U.S.A. 115 (18) 4731-4736 [2018-05-01; online 2018-04-17]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended and Continuous Decline in Effective Population Size Results in Low Genomic Diversity in the World's Rarest Hyena Species, the Brown Hyena.
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Mol. Biol. Evol. 35 (5) 1225-1237 [2018-05-01; online 2018-03-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcription profiling of peripheral B cells in antibody-positive primary Sjögren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.
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Scand. J. Immunol. 87 (5) e12662 [2018-05-00; online 2018-04-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus.
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Clin. Pharmacol. Ther. 103 (5) 843-853 [2018-05-00; online 2017-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Molecular barcoding of viral vectors enables mapping and optimization of mRNAtrans-splicing
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RNA 24 (5) 673-687 [2018-05-00; online 2018-01-31]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Increasing sorghum yields by seed treatment with an aqueous extract of the plant Eclipta alba may involve a dual mechanism of hydropriming and suppression of fungal pathogens
Zida PE, Néya BJ, Stokholm MS, ..., Sérémé P, Lund OS
Crop Protection 107 (-) 48-55 [2018-05-00; online 2018-05-00]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Host genetic variation strongly influences the microbiome structure and function in fungal fruiting-bodies
Pent M, Hiltunen M, Põldmaa K, ..., Ryberg M, Bahram M
Environ Microbiol 20 (5) 1641-1650 [2018-05-00; online 2018-03-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Wray NR, Ripke S, Mattheisen M, ..., Sullivan PF, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
Nat. Genet. 50 (5) 668-681 [2018-05-00; online 2018-04-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fatal demyelinating disease is induced by monocyte-derived macrophages in the absence of TGF-β signaling
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Nat. Immunol. 19 (5) 1-7 [2018-05-00; online 2018-04-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Ethylene signaling induces gelatinous layers with typical features of tension wood in hybrid aspen.
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New Phytol. 218 (3) 999-1014 [2018-05-00; online 2018-03-12]
Cryo-EM [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.
Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, ..., Syvänen AC, Sandling JK
Ann. Rheum. Dis. 77 (5) 736-743 [2018-05-00; online 2018-02-01]
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Combined BET bromodomain and CDK2 inhibition in MYC-driven medulloblastoma.
Bolin S, Borgenvik A, Persson CU, ..., Weishaupt H, Swartling FJ
Oncogene 37 (21) 2850-2862 [2018-05-00; online 2018-03-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Significant loss of mitochondrial diversity within the last century due to extinction of peripheral populations in eastern gorillas.
van der Valk T, Sandoval-Castellanos E, Caillaud D, ..., Dalén L, Guschanski K
Sci Rep 8 (1) 6551 [2018-04-25; online 2018-04-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Repeated evolution of self-compatibility for reproductive assurance.
Nieuwenhuis BPS, Tusso S, Bjerling P, ..., Wolf JBW, Immler S
Nat Commun 9 (1) 1639 [2018-04-24; online 2018-04-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Guided Analysis of Clostridium ultunense and Comparative Genomics Reveal Different Strategies for Acetate Oxidation and Energy Conservation in Syntrophic Acetate-Oxidising Bacteria
Manzoor S, Schnürer A, Bongcam-Rudloff E, Müller B
Genes 9 (4) 225 [2018-04-23; online 2018-04-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Full Mitogenomes in the Critically Endangered Kākāpō Reveal Major Post-Glacial and Anthropogenic Effects on Neutral Genetic Diversity.
Dussex N, von Seth J, Robertson BC, Dalén L
Genes 9 (4) 220 [2018-04-19; online 2018-04-19]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome.
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Neurogastroenterol. Motil. - (-) e13358 [2018-04-19; online 2018-04-19]
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Genetic and Environmental Contributions to the Covariation Between Cardiometabolic Traits.
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J Am Heart Assoc 7 (9) - [2018-04-18; online 2018-04-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Expression of scavenger receptor MARCO defines a targetable tumor-associated macrophage subset in non-small cell lung cancer.
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Int. J. Cancer - (-) - [2018-04-18; online 2018-04-18]
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Data quality of whole genome bisulfite sequencing on Illumina platforms.
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PLoS ONE 13 (4) e0195972 [2018-04-18; online 2018-04-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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Transcriptome profiling of the interconnection of pathways involved in malignant transformation and response to hypoxia.
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Female-specific Association Between Variants on Chromosome 9 and Self-reported Diagnosis of Irritable Bowel Syndrome.
Bonfiglio F, Zheng T, Garcia-Etxebarria K, ..., Zhernakova A, D'Amato M
Gastroenterology - (-) - [2018-04-04; online 2018-04-04]
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Transcriptional Roadmap to Seasonal Variation in Wood Formation of Norway Spruce.
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Plant Physiol. 176 (4) 2851-2870 [2018-04-00; online 2018-02-27]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The functional 3'-end of immunoglobulin heavy chain variable (IGHV) genes.
Thörnqvist L, Ohlin M
Mol. Immunol. 96 (-) 61-68 [2018-04-00; online 2018-02-28]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A, Wessel J, Willems SM, ..., Rotter JI, McCarthy MI
Nat. Genet. 50 (4) 559-571 [2018-04-00; online 2018-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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RNA Sequencing of Stentor Cell Fragments Reveals Transcriptional Changes during Cellular Regeneration
Onsbring H, Jamy M, Ettema TJG
Current Biology 28 (8) 1281-1288.e3 [2018-04-00; online 2018-04-00]
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PubMed DOI Crossref
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Malik R, Chauhan G, Traylor M, ..., Debette S, Dichgans M
Nat. Genet. 50 (4) 524-537 [2018-04-00; online 2018-03-12]
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Long Non-Coding RNAs Associated with Metabolic Traits in Human White Adipose Tissue.
Gao H, Kerr A, Jiao H, ..., Dahlman I, Arner P
EBioMedicine 30 (-) 248-260 [2018-04-00; online 2018-03-15]
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Know your farmer: Ancient origins and multiple independent domestications of ambrosia beetle fungal cultivars
Vanderpool D, Bracewell RR, McCutcheon JP
Mol Ecol 27 (8) 2077-2094 [2018-04-00; online 2017-11-23]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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An in vitro evaluation of browser and grazer fermentation efficiency and microbiota using European moose spring and summer foods
Krizsan SJ, Mateos-Rivera A, Bertilsson S, ..., Gidlund H, Huhtanen P
Ecol Evol 8 (8) 4183-4196 [2018-04-00; online 2018-03-31]
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Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.
Arkani S, Cao J, Lundin J, ..., Matsson H, Nordenskjöld A
Hum Genome Var 5 (-) 18009 [2018-03-29; online 2018-03-29]
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Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia.
Valdiosera C, Günther T, Vera-Rodríguez JC, ..., Smith CI, Jakobsson M
Proc. Natl. Acad. Sci. U.S.A. 115 (13) 3428-3433 [2018-03-27; online 2018-03-12]
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Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents.
Ciuculete DM, Boström AE, Tuunainen AK, ..., Mwinyi J, Schiöth HB
J Psychiatr Res 102 (-) 44-51 [2018-03-26; online 2018-03-26]
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AMYCNE: Confident copy number assessment using whole genome sequencing data.
Eisfeldt J, Nilsson D, Andersson-Assarsson JC, Lindstrand A
PLoS ONE 13 (3) e0189710 [2018-03-26; online 2018-03-26]
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Multiscale patterns and drivers of arbuscular mycorrhizal fungal communities in the roots and root-associated soil of a wild perennial herb
Rasmussen PU, Hugerth LW, Blanchet FG, ..., Lindahl BD, Tack AJM
New Phytol - (-) - [2018-03-24; online 2018-03-24]
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PubMed DOI Crossref
A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood.
Jiang J, Thalamuthu A, Ho JE, ..., Sachdev PS, Mather KA
Front Genet 9 (-) 97 [2018-03-23; online 2018-03-23]
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PubMed DOI Crossref
Reducing Pericyte-Derived Scarring Promotes Recovery after Spinal Cord Injury.
Dias DO, Kim H, Holl D, ..., Göritz C, Frisén J
Cell 173 (1) 153-165.e22 [2018-03-22; online 2018-03-01]
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Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Ardui S, Ameur A, Vermeesch JR, Hestand MS
Nucleic Acids Res. 46 (5) 2159-2168 [2018-03-16; online 2018-02-06]
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PubMed DOI Crossref
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.
Jiao X, Liu W, Mahdessian H, ..., Dunlop M, Lindblom A
PLoS ONE 13 (3) e0193547 [2018-03-16; online 2018-03-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ethylene-Related Gene Expression Networks in Wood Formation.
Seyfferth C, Wessels B, Jokipii-Lukkari S, ..., Felten J, Tuominen H
Front Plant Sci 9 (-) 272 [2018-03-14; online 2018-03-14]
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High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.
Tran AN, Taylan F, Zachariadis V, ..., Nilsson D, Barbany G
PLoS ONE 13 (3) e0193928 [2018-03-12; online 2018-03-12]
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Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
Coleman JRI, Bryois J, Gaspar HA, ..., Posthuma D, Breen G
Mol. Psychiatry - (-) - [2018-03-08; online 2018-03-08]
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Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, Thorleifsson G, Gretarsdottir S, ..., Holm H, Stefansson K
Nat Commun 9 (1) 987 [2018-03-07; online 2018-03-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Global analysis of A-to-I RNA editing reveals association with common disease variants
Franzén O, Ermel R, Sukhavasi K, ..., Schadt EE, Björkegren JLM
PeerJ 6 (-) e4466 [2018-03-06; online 2018-03-06]
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PubMed DOI Crossref
DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia.
Borssén M, Nordlund J, Haider Z, ..., Lönnerholm G, Degerman S
Clin Epigenetics 10 (-) 31 [2018-03-05; online 2018-03-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome analysis of embryonic domains in Norway spruce reveals potential regulators of suspensor cell death.
Reza SH, Delhomme N, Street NR, ..., Minina EA, Bozhkov PV
PLoS ONE 13 (3) e0192945 [2018-03-02; online 2018-03-02]
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PubMed DOI Crossref
Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients.
James T, Lindén M, Morikawa H, ..., Gomez-Cabrero D, Kockum I
Hum. Mol. Genet. 27 (5) 912-928 [2018-03-01; online 2018-01-13]
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PubMed DOI Crossref
Genomic signatures of 60 years of bidirectional selection for 8-week body weight in chickens
Lillie M, Sheng ZY, Honaker CF, ..., Siegel PB, Carlborg Ö
Poult. Sci. 97 (3) 781-790 [2018-03-01; online 2017-12-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic variants influencing phenotypic variance heterogeneity.
Ek WE, Rask-Andersen M, Karlsson T, ..., Gyllensten U, Johansson Å
Hum. Mol. Genet. 27 (5) 799-810 [2018-03-01; online 2018-01-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
Sung YJ, Winkler TW, de Las Fuentes L, ..., Rao DC, Chasman DI
Am. J. Hum. Genet. 102 (3) 375-400 [2018-03-01; online 2018-02-15]
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PubMed DOI Crossref
The fungus that came in from the cold: dry rot’s pre-adapted ability to invade buildings
Balasundaram SV, Hess J, Durling MB, ..., Eastwood DC, Skrede I
ISME J 12 (3) 791-801 [2018-03-00; online 2018-01-05]
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PubMed DOI Crossref
Relicts of the lost arc: High-throughput sequencing of the Eutrichomyias rowleyi (Aves: Passeriformes) holotype uncovers an ancient biogeographic link between the Philippines and Fiji.
Jønsson KA, Blom MPK, Päckert M, Ericson PGP, Irestedt M
Mol. Phylogenet. Evol. 120 (-) 28-32 [2018-03-00; online 2017-12-02]
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Geobacteraceae are important members of mercury-methylating microbial communities of sediments impacted by waste water releases
Bravo AG, Zopfi J, Buck M, ..., Poté J, Cosio C
ISME J 12 (3) 802-812 [2018-03-00; online 2018-01-10]
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Fungal community shifts underpin declining mycelial production and turnover across a <i>Pinus sylvestris</i> chronosequence
Hagenbo A, Kyaschenko J, Clemmensen KE, Lindahl BD, Fransson P
J Ecol 106 (2) 490-501 [2018-03-00; online 2018-02-13]
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Functional metagenomics reveals a novel carbapenem-hydrolyzing mobile beta-lactamase from Indian river sediments contaminated with antibiotic production waste
Marathe NP, Janzon A, Kotsakis SD, ..., Kristiansson E, Larsson DGJ
Environment International 112 (-) 279-286 [2018-03-00; online 2018-03-00]
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PubMed DOI Crossref
First de novo whole genome sequencing and assembly of the pink-footed goose.
Pujolar JM, Dalén L, Olsen RA, Hansen MM, Madsen J
Genomics 110 (2) 75-79 [2018-03-00; online 2017-08-30]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cleaner fish escape salmon farms and hybridize with local wrasse populations
Faust E, Halvorsen KT, Andersen P, Knutsen H, André C
R. Soc. open sci. 5 (3) 171752 [2018-03-00; online 2018-03-21]
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PubMed DOI Crossref
The ZBED6–IGF2 axis has a major effect on growth of skeletal muscle and internal organs in placental mammals
Younis S, Schönke M, Massart J, ..., Zierath JR, Andersson L
Proc Natl Acad Sci USA 115 (9) E2048-E2057 [2018-02-27; online 2018-02-12]
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PubMed DOI Crossref
Targeted Long-Read Sequencing of a Locus Under Long-Term Balancing Selection in Capsella
Bachmann JA, Tedder A, Laenen B, Steige KA, Slotte T
G3 (Bethesda) 8 (4) 1327-1333 [2018-02-23; online 2018-02-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disruption of Accumbens and Thalamic White Matter Connectivity Revealed by Diffusion Tensor Tractography in Young Men with Genetic Risk for Obesity
Olivo G, Latini F, Wiemerslage L, Larsson EM, Schiöth HB
Front Hum Neurosci 12 (-) - [2018-02-22; online 2018-02-22]
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PubMed DOI Crossref
A molecular atlas of cell types and zonation in the brain vasculature.
Vanlandewijck M, He L, Mäe MA, ..., Lendahl U, Betsholtz C
Nature 554 (7693) 475-480 [2018-02-22; online 2018-02-14]
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Two novel colorectal cancer risk loci in the region on chromosome 9q22.32
Thutkawkorapin J, Mahdessian H, Barber T, ..., Jiao X, Lindblom A
Oncotarget 9 (13) - [2018-02-16; online 2018-01-30]
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PubMed DOI Crossref
The DNA Methylome of the Hyperthermoacidophilic Crenarchaeon Sulfolobus acidocaldarius
Couturier M, Lindås AC
Front Microbiol 9 (-) - [2018-02-08; online 2018-02-08]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Ten steps to get started in Genome Assembly and Annotation
Dominguez Del Angel V, Hjerde E, Sterck L, ..., Binzer-Panchal M, Lantz H
F1000Res 7 (-) 148 [2018-02-05; online 2018-02-05]
Bioinformatics (NBIS) [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Technology development] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
CheckQC: Quick quality control of Illumina sequencing runs
Åslin M, Brandt M, Dahlberg J
JOSS 3 (22) 556 [2018-02-05; online 2018-02-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Multi-omics Reveals the Lifestyle of the Acidophilic, Mineral-Oxidizing Model Species Leptospirillum ferriphilum T.
Christel S, Herold M, Bellenberg S, ..., Poetsch A, Dopson M
Appl. Environ. Microbiol. 84 (3) e02091-17 [2018-02-01; online 2018-01-17]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
De novo mutations implicate novel genes in systemic lupus erythematosus.
Pullabhatla V, Roberts AL, Lewis MJ, ..., Syvänen AC, Vyse TJ
Hum. Mol. Genet. 27 (3) 421-429 [2018-02-01; online 2017-11-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transposon-derived small RNAs triggered by miR845 mediate genome dosage response in Arabidopsis
Borges F, Parent JS, van Ex F, ..., Köhler C, Martienssen RA
Nat Genet 50 (2) 186-192 [2018-02-00; online 2018-01-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus
Houtman M, Shchetynsky K, Chemin K, ..., Malmström V, Padyukov L
Journal of Autoimmunity 90 (-) 28-38 [2018-02-00; online 2018-02-00]
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PubMed DOI Crossref
Slow evolution of sex-biased genes in the reproductive tissue of the dioecious plant Salix viminalis
Darolti I, Wright AE, Pucholt P, Berlin S, Mank JE
Mol Ecol 27 (3) 694-708 [2018-02-00; online 2018-01-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Paternal easiRNAs regulate parental genome dosage in Arabidopsis
Martinez G, Wolff P, Wang Z, ..., Slotkin RK, Köhler C
Nat Genet 50 (2) 193-198 [2018-02-00; online 2018-01-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Life after tree death: Does restored dead wood host different fungal communities to natural woody substrates?
Pasanen H, Junninen K, Boberg J, ..., Stenlid J, Kouki J
Forest Ecology and Management 409 (-) 863-871 [2018-02-00; online 2018-02-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In situ protein detection with enhanced specificity using DNA-conjugated antibodies and proximity ligation.
Zieba A, Ponten F, Uhlén M, Landegren U
Mod. Pathol. 31 (2) 253-263 [2018-02-00; online 2017-09-22]
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Gene expression profiling across ontogenetic stages in the wood white (Leptidea sinapis) reveals pathways linked to butterfly diapause regulation.
Leal L, Talla V, Källman T, ..., Vila R, Backström N
Mol. Ecol. 27 (4) 935-948 [2018-02-00; online 2018-02-26]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Formation of mercury methylation hotspots as a consequence of forestry operations
Eklöf K, Bishop K, Bertilsson S, ..., Kronberg RM, Bravo AG
Science of The Total Environment 613-614 (-) 1069-1078 [2018-02-00; online 2018-02-00]
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PubMed DOI Crossref
Dispersal timing determines the importance of priority effects in bacterial communities
Svoboda P, Lindström ES, Ahmed Osman O, Langenheder S
ISME J 12 (2) 644-646 [2018-02-00; online 2017-10-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
Stamouli S, Anderlid BM, Willfors C, ..., Tammimies K, Bölte S
Twin Res Hum Genet 21 (1) 1-11 [2018-02-00; online 2018-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Conserved properties of dentate gyrus neurogenesis across postnatal development revealed by single-cell RNA sequencing.
Hochgerner H, Zeisel A, Lönnerberg P, Linnarsson S
Nat. Neurosci. 21 (2) 290-299 [2018-02-00; online 2018-01-15]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Activating FGFR1 Mutations in Sporadic Pheochromocytomas.
Welander J, Łysiak M, Brauckhoff M, ..., Söderkvist P, Gimm O
World J Surg 42 (2) 482-489 [2018-02-00; online 2017-11-22]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A DNA methylation biomarker of alcohol consumption.
Liu C, Marioni RE, Hedman ÅK, ..., Ingelsson E, Levy D
Mol. Psychiatry 23 (2) 422-433 [2018-02-00; online 2016-11-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In Situ Analyses Directly in Diarrheal Stool Reveal Large Variations in Bacterial Load and Active Toxin Expression of Enterotoxigenic Escherichia coli and Vibrio cholerae
Begum YA, Rydberg HA, Thorell K, ..., Qadri F, Sjöling Å
mSphere 3 (1) e00517-17 [2018-01-24; online 2018-01-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetical genomics of growth in a chicken model.
Johnsson M, Henriksen R, Höglund A, ..., Jensen P, Wright D
BMC Genomics 19 (1) 72 [2018-01-23; online 2018-01-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Demography and mating system shape the genome-wide impact of purifying selection in Arabis alpina.
Laenen B, Tedder A, Nowak MD, ..., Coupland G, Slotte T
Proc. Natl. Acad. Sci. U.S.A. 115 (4) 816-821 [2018-01-23; online 2018-01-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
Jiang X, O'Reilly PF, Aschard H, ..., Kraft P, Kiel DP
Nat Commun 9 (1) 260 [2018-01-17; online 2018-01-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete genomic and transcriptional landscape analysis using third-generation sequencing: a case study of Saccharomyces cerevisiae CEN.PK113-7D
Jenjaroenpun P, Wongsurawat T, Pereira R, ..., Nielsen J, Nookaew I
Nucleic Acids Res - (-) - [2018-01-13; online 2018-01-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rapid hybrid speciation in Darwin’s finches
Lamichhaney S, Han F, Webster MT, ..., Grant BR, Grant PR
Science 359 (6372) 224-228 [2018-01-12; online 2017-11-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of exome array data identifies six novel genetic loci for lung function.
Jackson VE, Latourelle JC, Wain LV, ..., Tobin MD, London SJ
Wellcome Open Res 3 (-) 4 [2018-01-12; online 2018-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Identification of shared genetic variants between schizophrenia and lung cancer.
Zuber V, Jönsson EG, Frei O, ..., Mills IG, Andreassen OA
Sci Rep 8 (1) 674 [2018-01-12; online 2018-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovering viral genomes in human metagenomic data by predicting unknown protein families.
Barrientos-Somarribas M, Messina DN, Pou C, ..., Andersson B, Sonnhammer ELL
Sci Rep 8 (1) 28 [2018-01-08; online 2018-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of the hybrid genomes of two field isolates of the soil-borne fungal species Verticillium longisporum.
Fogelqvist J, Tzelepis G, Bejai S, ..., Schwelm A, Dixelius C
BMC Genomics 19 (1) 14 [2018-01-03; online 2018-01-03]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Angiopoietin-1 deficiency increases renal capillary rarefaction and tubulointerstitial fibrosis in mice
Loganathan K, Salem Said E, Winterrowd E, ..., Quaggin SE, Jeansson M
PLoS ONE 13 (1) e0189433 [2018-01-02; online 2018-01-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
Eriksson D, Dalin F, Eriksson GN, ..., Munoz KD, None
J. Clin. Endocrinol. Metab. 103 (1) 179-186 [2018-01-01; online 2017-10-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Viral metagenomics reveals the presence of highly divergent quaranjavirus in Rhipicephalus ticks from Mozambique
Cholleti H, Hayer J, Mulandane FC, ..., Berg M, Blomström AL
Infect Ecol Epidemiol 8 (1) 1478585 [2018-01-00; online 2018-05-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Urban landscape genomics identifies fine-scale gene flow patterns in an avian invasive.
Low GW, Chattopadhyay B, Garg KM, ..., Wu S, Rheindt FE
Heredity (Edinb) 120 (2) 138-153 [2018-01-00; online 2017-12-11]
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PubMed DOI Crossref
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.
Lodé L, Ameur A, Coste T, ..., Lavabre-Bertrand T, Soussi T
Haematologica 103 (1) e13-e16 [2018-01-00; online 2017-10-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V, Lu Y, Highland HM, ..., MAGIC Investigators , Understanding Society Scientific Group
Nat. Genet. 50 (1) 26-41 [2018-01-00; online 2017-12-22]
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PubMed DOI Crossref
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.
Günther T, Malmström H, Svensson EM, ..., Götherström A, Jakobsson M
PLoS Biol. 16 (1) e2003703 [2018-01-00; online 2018-01-09]
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PubMed DOI Crossref
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
Tariq M, Khan TN, Lundin L, ..., Dahl N, Klar J
Clin Genet 93 (1) 182-186 [2018-01-00; online 2017-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic consequences of intensive inbreeding in an isolated wolf population
Kardos M, Åkesson M, Fountain T, ..., Wikenros C, Ellegren H
Nat Ecol Evol 2 (1) 124-131 [2018-01-00; online 2017-11-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, ..., Thuresson AC, Feuk L
Am. J. Med. Genet. B Neuropsychiatr. Genet. 177 (1) 10-20 [2018-01-00; online 2017-10-09]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
Jokinen J, Boström AE, Dadfar A, ..., Åsberg M, Schiöth HB
EBioMedicine 27 (-) 123-133 [2018-01-00; online 2017-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex effects of mammalian grazing on extramatrical mycelial biomass in the Scandes forest-tundra ecotone
Vowles T, Lindwall F, Ekblad A, ..., Ryberg M, Björk RG
Ecol Evol 8 (2) 1019-1030 [2018-01-00; online 2017-12-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Abundant recent activity of retrovirus-like retrotransposons within and among flycatcher species implies a rich source of structural variation in songbird genomes
Suh A, Smeds L, Ellegren H
Mol Ecol 27 (1) 99-111 [2018-01-00; online 2017-12-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2017

PubMed DOI Crossref
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
Hofmeister W, Pettersson M, Kurtoglu D, ..., Gustavsson P, Lindstrand A
Hum. Mutat. - (-) - [2017-12-28; online 2017-12-28]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methylation-based estimated biological age and cardiovascular disease
Lind L, Ingelsson E, Sundström J, Siegbahn A, Lampa E
Eur J Clin Invest - (-) e12872 [2017-12-27; online 2017-12-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chemical and microbiological evaluation of novel chemical treatment methods for acid sulfate soils.
Högfors-Rönnholm E, Christel S, Dalhem K, ..., Österholm P, Dopson M
Sci. Total Environ. 625 (-) 39-49 [2017-12-26; online 2017-12-26]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Reading and editing the Pleurodeles waltl genome reveals novel features of tetrapod regeneration.
Elewa A, Wang H, Talavera-López C, ..., Andersson B, Simon A
Nat Commun 8 (1) 2286 [2017-12-22; online 2017-12-22]
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A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis
Bohman A, Juodakis J, Oscarsson M, ..., Bende M, Torinsson Naluai Å
PLoS ONE 12 (12) e0185244 [2017-12-18; online 2017-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of the fourth mobile sulfonamide resistance gene.
Razavi M, Marathe NP, Gillings MR, ..., Kristiansson E, Joakim Larsson DG
Microbiome 5 (1) 160 [2017-12-15; online 2017-12-15]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cancer risk susceptibility loci in a Swedish population.
Liu W, Jiao X, Thutkawkorapin J, Mahdessian H, Lindblom A
Oncotarget 8 (66) 110300-110310 [2017-12-15; online 2017-11-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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CELSR2 is a candidate susceptibility gene in idiopathic scoliosis
Einarsdottir E, Grauers A, Wang J, ..., Kere J, Gerdhem P
PLoS ONE 12 (12) e0189591 [2017-12-14; online 2017-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomics and Targeted Proteomics Analysis to Gain Insights Into the Immune-control Mechanisms of HIV-1 Infected Elite Controllers.
Zhang W, Ambikan AT, Sperk M, ..., Sönnerborg A, Neogi U
EBioMedicine - (-) - [2017-12-12; online 2017-12-12]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterization of the Giardia intestinalis secretome during interaction with human intestinal epithelial cells: The impact on host cells
Ma’ayeh SY, Liu J, Peirasmaki D, ..., Bergquist J, Svärd SG
PLoS Negl Trop Dis 11 (12) e0006120 [2017-12-11; online 2017-12-11]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Unique ISR Program Determines Cellular Responses to Chronic Stress.
Guan BJ, van Hoef V, Jobava R, ..., Larsson O, Hatzoglou M
Mol. Cell 68 (5) 885-900.e6 [2017-12-07; online 2017-12-09]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Heterogeneous Patterns of Genetic Diversity and Differentiation in European and Siberian Chiffchaff ( Phylloscopus collybita abietinus/P. tristis).
Talla V, Kalsoom F, Shipilina D, Marova I, Backström N
G3 (Bethesda) 7 (12) 3983-3998 [2017-12-04; online 2017-12-04]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira MA, Vonk JM, Baurecht H, ..., Koppelman GH, Paternoster L
Nat. Genet. 49 (12) 1752-1757 [2017-12-00; online 2017-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA-sequence data normalization through in silico prediction of reference genes: the bacterial response to DNA damage as case study
Berghoff BA, Karlsson T, Källman T, Wagner EGH, Grabherr MG
BioData Mining 10 (1) - [2017-12-00; online 2017-09-05]
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Overexpression of PaNAC03, a stress induced NAC gene family transcription factor in Norway spruce leads to reduced flavonol biosynthesis and aberrant embryo development
Dalman K, Wind JJ, Nemesio-Gorriz M, ..., Ezcurra I, Elfstrand M
BMC Plant Biol. 17 (1) - [2017-12-00; online 2017-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel risk genes for systemic lupus erythematosus predicted by random forest classification
Almlöf JC, Alexsson A, Imgenberg-Kreuz J, ..., Sandling JK, Syvänen AC
Sci Rep 7 (1) - [2017-12-00; online 2017-07-24]
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PubMed DOI Crossref
Multiple genotypes within aecial clusters in Puccinia graminis and Puccinia coronata: improved understanding of the biology of cereal rust fungi
Berlin A, Samils B, Andersson B
Fungal Biol Biotechnol 4 (1) - [2017-12-00; online 2017-05-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mapping of leptin and its syntenic genes to chicken chromosome 1p
Seroussi E, Pitel F, Leroux S, ..., Anderson L, Friedman-Einat M
BMC Genet. 18 (1) - [2017-12-00; online 2017-08-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Large-scale suppression of recombination predates genomic rearrangements in Neurospora tetrasperma
Sun Y, Svedberg J, Hiltunen M, Corcoran P, Johannesson H
Nat Commun 8 (1) - [2017-12-00; online 2017-10-26]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Influence of pulsed and continuous substrate inputs on freshwater bacterial community composition and functioning in bioreactors
Ricão Canelhas M, Andersson M, Eiler A, Lindström ES, Bertilsson S
Environ Microbiol 19 (12) 5078-5087 [2017-12-00; online 2017-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inflammatory infiltrates in parathyroid tumors.
Haglund F, Hallström BM, Nilsson IL, ..., Juhlin CC, Larsson C
Eur. J. Endocrinol. 177 (6) 445-453 [2017-12-00; online 2017-08-30]
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Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
Thonberg H, Chiang HH, Lilius L, ..., Rönnbäck A, Graff C
Acta Neuropathol Commun 5 (1) - [2017-12-00; online 2017-06-09]
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PubMed DOI Crossref
Genome-wide standing variation facilitates long-term response to bidirectional selection for antibody response in chickens
Lillie M, Sheng Z, Honaker CF, ..., Siegel PB, Carlborg Ö
BMC Genomics 18 (1) - [2017-12-00; online 2017-01-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic- and Lifestyle-dependent Dental Caries Defined by the Acidic Proline-rich Protein Genes PRH1 and PRH2
Strömberg N, Esberg A, Sheng N, ..., Danielsson K, Källestål C
EBioMedicine 26 (-) 38-46 [2017-12-00; online 2017-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft genome of the brown-rot fungus Fomitopsis pinicola GR9-4
Kancherla RP, Durling MB, Stenlid J, Högberg N
Data Brief 15 (-) 496-500 [2017-12-00; online 2017-12-00]
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PubMed DOI Crossref
Detection of QTL for greasy fleece weight in sheep using a 50 K single nucleotide polymorphism chip
Ebrahimi F, Gholizadeh M, Rahimi-Mianji G, Farhadi A
Trop Anim Health Prod 49 (8) 1657-1662 [2017-12-00; online 2017-08-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Correspondence on Lovell et al.: identification of chicken genes previously assumed to be evolutionarily lost
Bornelöv S, Seroussi E, Yosefi S, ..., Friedman-Einat M, Andersson L
Genome Biol. 18 (1) - [2017-12-00; online 2017-06-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A female Viking warrior confirmed by genomics.
Hedenstierna-Jonson C, Kjellström A, Zachrisson T, ..., Götherström A, Storå J
Am. J. Phys. Anthropol. 164 (4) 853-860 [2017-12-00; online 2017-09-08]
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PubMed DOI Crossref
Intra-tumor heterogeneity in breast cancer has limited impact on transcriptomic-based molecular profiling.
Karthik GM, Rantalainen M, Stålhammar G, ..., Bergh J, Hartman J
BMC Cancer 17 (1) 802 [2017-11-29; online 2017-11-29]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
STRT-seq-2i: dual-index 5' single cell and nucleus RNA-seq on an addressable microwell array.
Hochgerner H, Lönnerberg P, Hodge R, ..., Zeisel A, Linnarsson S
Sci Rep 7 (1) 16327 [2017-11-27; online 2017-11-27]
Cellular Immunomonitoring [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Based Sexing Provides Clues about Behavior and Social Structure in the Woolly Mammoth.
Pečnerová P, Díez-Del-Molino D, Dussex N, ..., Vartanyan S, Dalén L
Curr. Biol. 27 (22) 3505-3510.e3 [2017-11-20; online 2017-11-02]
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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, ..., Grigelioniene G, Ikegawa S
Sci Rep 7 (1) 15585 [2017-11-14; online 2017-11-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans.
Rodríguez-Varela R, Günther T, Krzewińska M, ..., Götherström A, Girdland-Flink L
Curr. Biol. 27 (21) 3396-3402.e5 [2017-11-06; online 2017-10-26]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago.
Schlebusch CM, Malmström H, Günther T, ..., Lombard M, Jakobsson M
Science 358 (6363) 652-655 [2017-11-03; online 2017-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA-Seq de novo assembly and differential transcriptome analysis of the nematode Ascaridia galli in relation to in vivo exposure to flubendazole
Martis MM, Tarbiat B, Tydén E, Jansson DS, Höglund J
PLoS ONE 12 (11) e0185182 [2017-11-03; online 2017-11-03]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
Jiao H, Olin M, Hansson M, ..., Angelin B, Björkhem I
J. Intern. Med. - (-) - [2017-11-02; online 2017-11-02]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Untreated urban waste contaminates Indian river sediments with resistance genes to last resort antibiotics.
Marathe NP, Pal C, Gaikwad SS, ..., Kristiansson E, Larsson DGJ
Water Res. 124 (-) 388-397 [2017-11-01; online 2017-07-25]
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PubMed DOI Crossref
Whole mitochondrial genome capture from faecal samples and museum-preserved specimens.
van der Valk T, Lona Durazo F, Dalén L, Guschanski K
Mol Ecol Resour 17 (6) e111-e121 [2017-11-00; online 2017-08-03]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U
Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.
Sharma R, Harris VM, Cavett J, ..., Sivils KL, Scofield RH
Arthritis & rheumatology (Hoboken, N.J.) 69 (11) 2187-2192 [2017-11-00; online 2017-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ninety-nine de novo assembled genomes from the moose (Alces alces) rumen microbiome provide new insights into microbial plant biomass degradation.
Svartström O, Alneberg J, Terrapon N, ..., Aspeborg H, Andersson AF
ISME J 11 (11) 2538-2551 [2017-11-00; online 2017-07-21]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative studies implicate matrix metalloproteinase-12 as a culprit gene for large-artery atherosclerotic stroke
Mahdessian H, Perisic Matic L, Lengquist M, ..., Mälarstig A, None
J Intern Med 282 (5) 429-444 [2017-11-00; online 2017-08-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High abundance and expression of transposases in bacteria from the Baltic Sea.
Vigil-Stenman T, Ininbergs K, Bergman B, Ekman M
ISME J 11 (11) 2611-2623 [2017-11-00; online 2017-07-21]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.
Kamble PG, Gustafsson S, Pereira MJ, ..., Eriksson JW, Ingelsson E
Ups. J. Med. Sci. 122 (4) 234-242 [2017-11-00; online 2018-01-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Demographic inference from whole-genome and RAD sequencing data suggests alternating human impacts on goose populations since the last ice age.
Pujolar JM, Dalén L, Hansen MM, Madsen J
Mol. Ecol. 26 (22) 6270-6283 [2017-11-00; online 2017-11-03]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Scott RA, Scott LJ, Mägi R, ..., McCarthy MI, Prokopenko I
Diabetes 66 (11) 2888-2902 [2017-11-00; online 2017-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson ML
Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, Ericson K, Gudmundsson S, ..., Frykholm C, Wilbe M
Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Vitamin and Amino Acid Auxotrophy in Anaerobic Consortia Operating under Methanogenic Conditions
Hubalek V, Buck M, Tan B, ..., Bertilsson S, Eiler A
mSystems 2 (5) e00038-17 [2017-10-31; online 2017-10-31]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ, Peloso GM, Yu H, ..., Willer CJ, Kathiresan S
Nat. Genet. - (-) - [2017-10-30; online 2017-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Efficient protein production by yeast requires global tuning of metabolism.
Huang M, Bao J, Hallström BM, Petranovic D, Nielsen J
Nat Commun 8 (1) 1131 [2017-10-25; online 2017-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polysome-profiling in small tissue samples.
Liang S, Bellato HM, Lorent J, ..., Hajj GNM, Larsson O
Nucleic Acids Res. - (-) - [2017-10-23; online 2017-10-23]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Below-ground organic matter accumulation along a boreal forest fertility gradient relates to guild interaction within fungal communities
Kyaschenko J, Clemmensen KE, Karltun E, Lindahl BD
Ecol Lett - (-) - [2017-10-22; online 2017-10-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
De novo design and synthesis of a 30-cistron translation-factor module
Shepherd TR, Du L, Liljeruhm J, ..., Yomo T, Forster AC
Nucleic Acids Res 45 (18) 10895-10905 [2017-10-13; online 2017-09-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Spatial detection of fetal marker genes expressed at low level in adult human heart tissue.
Asp M, Salmén F, Ståhl PL, ..., Linde C, Lundeberg J
Sci Rep 7 (1) 12941 [2017-10-11; online 2017-10-11]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diatoms dominate the eukaryotic metatranscriptome during spring in coastal 'dead zone' sediments.
Broman E, Sachpazidou V, Dopson M, Hylander S
Proc. Biol. Sci. 284 (1864) - [2017-10-11; online 2017-10-06]
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PubMed DOI Crossref
The Evolution of Dark Matter in the Mitogenome of Seed Beetles
Sayadi A, Immonen E, Tellgren-Roth C, Arnqvist G
Genome Biol Evol 9 (10) 2697-2706 [2017-10-01; online 2017-09-27]
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Shaping the Tumor Stroma and Sparking Immune Activation by CD40 and 4-1BB Signaling Induced by an Armed Oncolytic Virus
Eriksson E, Milenova I, Wenthe J, ..., Alemany R, Loskog A
Clin. Cancer Res. 23 (19) 5846-5857 [2017-10-01; online 2017-05-23]
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PubMed DOI Crossref
Rapid Increase in Genome Size as a Consequence of Transposable Element Hyperactivity in Wood-White (Leptidea) Butterflies.
Talla V, Suh A, Kalsoom F, ..., Wiklund C, Backström N
Genome Biol Evol 9 (10) 2491-2505 [2017-10-01; online 2017-10-06]
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DNA methylation profiles in red blood cells of adult hens correlate with their rearing conditions
Pértille F, Brantsæter M, Nordgreen J, ..., Jensen P, Guerrero-Bosagna C
J Exp Biol 220 (19) 3579-3587 [2017-10-01; online 2017-08-07]
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PubMed DOI Crossref
A MIR4646 associated methylation locus is hypomethylated in adolescent depression.
Boström AE, Ciuculete DM, Attwood M, ..., Mwinyi J, Schiöth HB
J Affect Disord 220 (-) 117-128 [2017-10-01; online 2017-05-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The evolutionary history of the DMRT3 ‘Gait keeper’ haplotype
Staiger EA, Almén MS, Promerová M, ..., Rubin CJ, Andersson L
Anim Genet 48 (5) 551-559 [2017-10-00; online 2017-07-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Zhao JJ, Halvardson J, Knaus A, ..., Thuresson AC, Feuk L
Hum. Mutat. 38 (10) 1394-1401 [2017-10-00; online 2017-06-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Quantitative interactions between the biocontrol fungus Phlebiopsis gigantea, the forest pathogen Heterobasidion annosum and the fungal community inhabiting Norway spruce stumps
Oliva J, Messal M, Wendt L, Elfstrand M
Forest Ecology and Management 402 (-) 253-264 [2017-10-00; online 2017-10-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic loci associated HLA-B*08:01 positive myasthenia gravis
Varade J, Wang N, Lim CK, ..., Xu X, Hammarström L
Journal of Autoimmunity - (-) - [2017-10-00; online 2017-10-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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NorWood: a gene expression resource for evo-devo studies of conifer wood development.
Jokipii-Lukkari S, Sundell D, Nilsson O, ..., Street NR, Tuominen H
New Phytol. 216 (2) 482-494 [2017-10-00; online 2017-02-10]
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Conflicting results from mitochondrial genomic data challenge current views of Rubiaceae phylogeny
Rydin C, Wikström N, Bremer B
Am. J. Bot. 104 (10) 1522-1532 [2017-10-00; online 2017-10-18]
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Artificial Selection Response due to Polygenic Adaptation from a Multilocus, Multiallelic Genetic Architecture
Zan Y, Sheng Z, Lillie M, ..., Siegel PB, Carlborg Ö
- 34 (10) 2678-2689 [2017-10-00; online 2017-07-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.
Strawbridge RJ, Silveira A, Hoed MD, ..., Hamsten A, IMPROVE study group
Atherosclerosis 266 (-) 196-204 [2017-09-28; online 2017-09-28]
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Epidemiological characterization of a nosocomial outbreak of extended spectrum β-lactamase Escherichia coli ST-131 confirms the clinical value of core genome multilocus sequence typing
Woksepp H, Ryberg A, Berglind L, Schön T, Söderman J
APMIS - (-) - [2017-09-28; online 2017-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Anti-mycobacterial activity correlates with altered DNA methylation pattern in immune cells from BCG-vaccinated subjects.
Verma D, Parasa VR, Raffetseder J, ..., Netea M, Lerm M
Sci Rep 7 (1) 12305 [2017-09-26; online 2017-09-26]
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Genetic risk scores and family history as predictors of schizophrenia in Nordic registers.
Lu Y, Pouget JG, Andreassen OA, ..., Werge T, Sullivan PF
Psychol Med - (-) 1-9 [2017-09-25; online 2017-09-25]
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Major transcriptional changes observed in the Fulani, an ethnic group less susceptible to malaria.
Quin JE, Bujila I, Chérif M, ..., Nebie I, Östlund Farrants AK
Elife 6 (-) - [2017-09-19; online 2017-09-19]
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The complete genome sequence of human adenovirus 84, a highly recombinant new Human mastadenovirus D type with a unique fiber gene.
Kaján GL, Kajon AE, Pinto AC, Bartha D, Arnberg N
Virus Res. 242 (-) 79-84 [2017-09-18; online 2017-09-18]
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Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth.
Yu NY, Bieder A, Raman A, ..., Daub CO, Kere J
Sci Rep 7 (1) 11458 [2017-09-13; online 2017-09-13]
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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
Wheeler E, Leong A, Liu CT, ..., None , None
PLoS Med. 14 (9) e1002383 [2017-09-12; online 2017-09-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fluorescent CRISPR Adaptation Reporter for rapid quantification of spacer acquisition.
Amlinger L, Hoekzema M, Wagner EGH, Koskiniemi S, Lundgren M
Sci Rep 7 (1) 10392 [2017-09-04; online 2017-09-04]
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Analysing Microbial Community Composition through Amplicon Sequencing: From Sampling to Hypothesis Testing.
Hugerth LW, Andersson AF
Front Microbiol 8 (-) 1561 [2017-09-04; online 2017-09-04]
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PubMed DOI Crossref
The Huperzia selago Shoot Tip Transcriptome Sheds New Light on the Evolution of Leaves.
Evkaikina AI, Berke L, Romanova MA, ..., Pawlowski K, Voitsekhovskaja OV
Genome Biol Evol 9 (9) 2444-2460 [2017-09-01; online 2017-09-29]
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Retention of seed trees fails to lifeboat ectomycorrhizal fungal diversity in harvested Scots pine forests.
Varenius K, Lindahl BD, Dahlberg A
FEMS Microbiol. Ecol. 93 (9) - [2017-09-01; online 2017-09-29]
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Genome Characterization of Oleaginous Aspergillus oryzae BCC7051: A Potential Fungal-Based Platform for Lipid Production.
Thammarongtham C, Nookaew I, Vorapreeda T, ..., Jeennor S, Laoteng K
Curr. Microbiol. - (-) - [2017-09-01; online 2017-09-01]
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A practical guide to build de-novo assemblies for single tissues of non-model organisms: the example of a Neotropical frog
Montero-Mendieta S, Grabherr M, Lantz H, ..., Webster MT, Vilà C
PeerJ 5 (-) e3702 [2017-09-01; online 2017-09-01]
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The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
Ahsan M, Ek WE, Rask-Andersen M, ..., Gyllensten U, Johansson Å
PLoS Genet. 13 (9) e1007005 [2017-09-00; online 2017-09-15]
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PubMed DOI Crossref
Regulation of gene expression is associated with tolerance of the Arctic copepod Calanus glacialis to CO2-acidified sea water
Bailey A, De Wit P, Thor P, ..., Thompson C, Hop H
Ecol Evol 7 (18) 7145-7160 [2017-09-00; online 2017-08-02]
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A CRISPR-Cas9 Generated MDCK Cell Line Expressing Human MDR1 Without Endogenous Canine MDR1 (cABCB1): An Improved Tool for Drug Efflux Studies.
Karlgren M, Simoff I, Backlund M, ..., Oswald S, Artursson P
J Pharm Sci 106 (9) 2909-2913 [2017-09-00; online 2017-04-24]
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Silencing FLI or targeting CD13/ANPEP lead to dephosphorylation of EPHA2, a mediator of BRAF inhibitor resistance, and induce growth arrest or apoptosis in melanoma cells.
Azimi A, Tuominen R, Costa Svedman F, ..., Hansson J, Egyhazi Brage S
Cell Death Dis 8 (8) e3029 [2017-08-31; online 2017-08-31]
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Neuroblastoma patient-derived xenograft cells cultured in stem-cell promoting medium retain tumorigenic and metastatic capacities but differentiate in serum.
Persson CU, von Stedingk K, Bexell D, ..., Påhlman S, Wigerup C
Sci Rep 7 (1) 10274 [2017-08-31; online 2017-08-31]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.
Brænne I, Willenborg C, Tragante V, ..., Erdmann J, Schunkert H
Sci Rep 7 (1) 10252 [2017-08-31; online 2017-08-31]
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PubMed DOI Crossref
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E, Peyrard-Janvid M, Darki F, ..., Leinonen E, Kere J
Sci Rep 7 (1) 9294 [2017-08-24; online 2017-08-24]
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Cerium oxide nanoparticles inhibit differentiation of neural stem cells.
Gliga AR, Edoff K, Caputo F, ..., Ceccatelli S, Fadeel B
Sci Rep 7 (1) 9284 [2017-08-24; online 2017-08-24]
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Mitochondrial genome of the North African Sahara Honeybee, Apis mellifera sahariensis (Hymenoptera: Apidae).
Haddad N, Adjlane N, Loucif-Ayad W, ..., Al-Nakeeb K, Sicheritz-Ponten T
Mitochondrial DNA Part B 2 (2) 548-549 [2017-08-22; online 2017-08-22]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk
Brænne I, Zeng L, Willenborg C, ..., None , None
PLoS ONE 12 (8) e0182999 [2017-08-22; online 2017-08-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A pathology atlas of the human cancer transcriptome.
Uhlen M, Zhang C, Lee S, ..., Mardinoglu A, Ponten F
Science 357 (6352) eaan2507 [2017-08-18; online 2017-08-19]
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PubMed DOI Crossref
Tea and coffee consumption in relation to DNA methylation in four European cohorts.
Ek WE, Tobi EW, Ahsan M, ..., Johansson Å, Epigenome-Wide Association Study Consortium
Hum. Mol. Genet. 26 (16) 3221-3231 [2017-08-15; online 2017-05-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles.
Marincevic-Zuniga Y, Dahlberg J, Nilsson S, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) 148 [2017-08-14; online 2017-08-14]
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Drift, selection, or migration? Processes affecting genetic differentiation and variation along a latitudinal gradient in an amphibian.
Cortázar-Chinarro M, Lattenkamp EZ, Meyer-Lucht Y, ..., Laurila A, Höglund J
BMC Evol. Biol. 17 (1) 189 [2017-08-14; online 2017-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genomic exploration of the diversity, ecology, and evolution of the archaeal domain of life
Spang A, Caceres EF, Ettema TJG
Science 357 (6351) eaaf3883 [2017-08-11; online 2017-08-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Shifts in coastal sediment oxygenation cause pronounced changes in microbial community composition and associated metabolism.
Broman E, Sjöstedt J, Pinhassi J, Dopson M
Microbiome 5 (1) 96 [2017-08-09; online 2017-08-09]
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PubMed DOI Crossref
Rho-associated kinase is a therapeutic target in neuroblastoma.
Dyberg C, Fransson S, Andonova T, ..., Johnsen JI, Wickström M
Proc. Natl. Acad. Sci. U.S.A. 114 (32) E6603-E6612 [2017-08-08; online 2017-07-24]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, Levy-Shraga Y, ..., Grasemann C, Mäkitie O
J. Bone Miner. Res. - (-) - [2017-08-04; online 2017-08-04]
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Comparison of four DNA extraction methods for comprehensive assessment of 16S rRNA bacterial diversity in marine biofilms using high-throughput sequencing
Corcoll N, Österlund T, Sinclair L, ..., Backhaus T, Eriksson KM
FEMS Microbiol. Lett. 364 (14) - [2017-08-01; online 2017-06-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome patterns of linkage disequilibrium across flycatcher populations clarify the causes and consequences of fine-scale recombination rate variation in birds
Kawakami T, Mugal CF, Suh A, ..., Smeds L, Ellegren H
Mol Ecol 26 (16) 4158-4172 [2017-08-00; online 2017-07-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Regional genetic differentiation in the blue mussel from the Baltic Sea area
Larsson J, Lind EE, Corell H, ..., Smolarz K, Lönn M
Estuarine, Coastal and Shelf Science 195 (-) 98-109 [2017-08-00; online 2017-08-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Rates of gene flow in a freshwater snail and the evolution of phenotypic plasticity
Hollander J, Ahlgren J, Brönmark C
Biol J Linn Soc Lond 121 (4) 764-770 [2017-08-00; online 2017-06-01]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Poorly known microbial taxa dominate the microbiome of permafrost thaw ponds
Wurzbacher C, Nilsson RH, Rautio M, Peura S
ISME J 11 (8) 1938-1941 [2017-08-00; online 2017-04-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Northeast African genomic variation shaped by the continuity of indigenous groups and Eurasian migrations.
Hollfelder N, Schlebusch CM, Günther T, ..., Hassan HY, Jakobsson M
PLoS Genet. 13 (8) e1006976 [2017-08-00; online 2017-08-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
Manousaki D, Dudding T, Haworth S, ..., Timpson NJ, Richards JB
The American Journal of Human Genetics 101 (2) 227-238 [2017-08-00; online 2017-08-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Low temperature, autotrophic microbial denitrification using thiosulfate or thiocyanate as electron donor.
Broman E, Jawad A, Wu X, ..., Sundkvist JE, Dopson M
Biodegradation 28 (4) 287-301 [2017-08-00; online 2017-06-02]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomewide patterns of variation in genetic diversity are shared among populations, species and higher-order taxa
Vijay N, Weissensteiner M, Burri R, ..., Ellegren H, Wolf JBW
Mol Ecol 26 (16) 4284-4295 [2017-08-00; online 2017-06-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-Wide Association Study of Angioedema Induced by Ace Inhibitors or Arbs in Sweden
Wadelius M, Eriksson N, Johansson C, ..., Magnusson PKE, Hallberg P
Clinical Therapeutics 39 (8) e76 [2017-08-00; online 2017-08-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic differences between willow warbler migratory phenotypes are few and cluster in large haplotype blocks
Lundberg M, Liedvogel M, Larson K, ..., Åkesson S, Bensch S
Evolution Letters 1 (3) 155-168 [2017-08-00; online 2017-06-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: an individual-based pooled analysis of 40 twin cohorts
Silventoinen K, Jelenkovic A, Sund R, ..., Sørensen TI, Kaprio J
Am J Clin Nutr 106 (2) 457-466 [2017-08-00; online 2017-07-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Data on haplotype-supported immunoglobulin germline gene inference.
Kirik U, Greiff L, Levander F, Ohlin M
Data Brief 13 (-) 620-640 [2017-08-00; online 2017-06-27]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CKM Glu83Gly Is Associated With Blunted Creatine Kinase Variation, but Not With Myalgia.
Siddiqui MK, Veluchamy A, Maroteau C, ..., Palmer CNA, PREDICTION-ADR Consortium
Circ Cardiovasc Genet 10 (4) e001737 [2017-08-00; online 2017-08-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Bioinformatic processing of RAD‐seq data dramatically impacts downstream population genetic inference
Shafer ABA, Peart CR, Tusso S, ..., Wheat CW, Wolf JBW
Methods Ecol Evol 8 (8) 907-917 [2017-08-00; online 2016-11-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP, Rasi C, Björklund P, ..., Hellman P, Tiensuu Janson E
Endocr. Relat. Cancer 24 (8) 427-443 [2017-08-00; online 2017-06-20]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Droplet Barcode Sequencing for targeted linked-read haplotyping of single DNA molecules.
Redin D, Borgström E, He M, ..., Käller M, Ahmadian A
Nucleic Acids Res. 45 (13) e125 [2017-07-27; online 2017-05-20]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.
Kämpe AJ, Costantini A, Mäkitie RE, ..., Jiao H, Mäkitie O
Osteoporos Int - (-) - [2017-07-26; online 2017-07-26]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Recent increased identification and transmission of HIV-1 unique recombinant forms in Sweden.
Neogi U, Siddik AB, Kalaghatgi P, ..., Marrone G, Sönnerborg A
Sci Rep 7 (1) 6371 [2017-07-25; online 2017-07-25]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Haploid selection within a single ejaculate increases offspring fitness
Alavioon G, Hotzy C, Nakhro K, ..., Maklakov AA, Immler S
Proc Natl Acad Sci USA 114 (30) 8053-8058 [2017-07-25; online 2017-07-11]
Genome Engineering Zebrafish [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Combined epigenetic and differentiation-based treatment inhibits neuroblastoma tumor growth and links HIF2α to tumor suppression.
Westerlund I, Shi Y, Toskas K, ..., Schlisio S, Holmberg J
Proc. Natl. Acad. Sci. U.S.A. 114 (30) E6137-E6146 [2017-07-25; online 2017-07-10]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
Wain LV, Vaez A, Jansen R, ..., Caulfield MJ, Ehret GB
Hypertension 70 (3) e4-e19 [2017-07-24; online 2017-07-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens MC, Demissie S, Hsu YH, ..., Ohlsson C, Kiel DP
Nat Commun 8 (1) 80 [2017-07-19; online 2017-07-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Transcriptional profiling of the rat nucleus accumbens after modest or high alcohol exposure.
Morud J, Ashouri A, Larsson E, Ericson M, Söderpalm B
PLoS ONE 12 (7) e0181084 [2017-07-17; online 2017-07-17]
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Transancestral mapping and genetic load in systemic lupus erythematosus.
Langefeld CD, Ainsworth HC, Cunninghame Graham DS, ..., Gaffney PM, Vyse TJ
Nat Commun 8 (-) 16021 [2017-07-17; online 2017-07-17]
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Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition.
Larsson C, Ali MA, Pandzic T, ..., He L, Sjöblom T
BMC Cancer 17 (1) 487 [2017-07-17; online 2017-07-17]
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Association analyses based on false discovery rate implicate new loci for coronary artery disease
Nelson CP, Goel A, Butterworth AS, ..., Watkins H, Deloukas P
Nat Genet 49 (9) 1385-1391 [2017-07-17; online 2017-07-17]
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PubMed DOI Crossref
Analysis of aquaporins from the euryhaline barnacle Balanus improvisus reveals differential expression in response to changes in salinity.
Lind U, Järvå M, Alm Rosenblad M, ..., Hedfalk K, Blomberg A
PLoS ONE 12 (7) e0181192 [2017-07-17; online 2017-07-17]
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Does antifouling paint select for antibiotic resistance?
Flach CF, Pal C, Svensson CJ, ..., Tysklind M, Larsson DG
Sci. Total Environ. 590-591 (-) 461-468 [2017-07-15; online 2017-03-08]
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Genotype–covariate interaction effects and the heritability of adult body mass index
Robinson MR, English G, Moser G, ..., Cesarini D, Visscher PM
Nat Genet 49 (8) 1174-1181 [2017-07-10; online 2017-07-10]
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Niche-mediated depletion of the normal hematopoietic stem cell reservoir by Flt3-ITD-induced myeloproliferation.
Mead AJ, Neo WH, Barkas N, ..., Nerlov C, Jacobsen SEW
J. Exp. Med. 214 (7) 2005-2021 [2017-07-03; online 2017-06-21]
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DOI Crossref
Mineral Type Structures Soil Microbial Communities
Ahmed E, Hugerth LW, Logue JB, ..., Andersson AF, Holmström SJM
Geomicrobiology Journal 34 (6) 538-545 [2017-07-03; online 2016-11-22]
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PubMed DOI Crossref
Interspecific Plastome Recombination Reflects Ancient Reticulate Evolution in Picea (Pinaceae).
Sullivan AR, Schiffthaler B, Thompson SL, Street NR, Wang XR
Mol. Biol. Evol. 34 (7) 1689-1701 [2017-07-01; online 2017-04-07]
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Genetics of phenotypic plasticity and biomass traits in hybrid willows across contrasting environments and years
Berlin S, Hallingbäck HR, Beyer F, ..., Weih M, Rönnberg-Wästljung AC
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PubMed DOI Crossref
Wholegrain oat diet changes the expression of genes associated with intestinal bile acid transport.
Andersson KE, Chawade A, Thuresson N, ..., Olsson O, Hellstrand P
Mol Nutr Food Res 61 (7) - [2017-07-00; online 2017-03-30]
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Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study
Zewinger S, Kleber ME, Tragante V, ..., März W, Speer T
The Lancet Diabetes & Endocrinology 5 (7) 534-543 [2017-07-00; online 2017-07-00]
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PubMed DOI Crossref
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
Pasanen P, Mäkinen J, Myllykangas L, ..., Pöyhönen M, Baumann P
Acta Neurol. Scand. 136 (1) 59-63 [2017-07-00; online 2016-10-10]
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PubMed DOI Crossref
Parallel antibody germline gene and haplotype analyses support the validity of immunoglobulin germline gene inference and discovery.
Kirik U, Greiff L, Levander F, Ohlin M
Mol. Immunol. 87 (-) 12-22 [2017-07-00; online 2017-04-04]
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Genomewide analysis of admixture and adaptation in the Africanized honeybee.
Nelson RM, Wallberg A, Simões ZLP, Lawson DJ, Webster MT
Mol. Ecol. 26 (14) 3603-3617 [2017-07-00; online 2017-04-24]
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Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.
Sniekers S, Stringer S, Watanabe K, ..., van Duijn CM, Posthuma D
Nat. Genet. 49 (7) 1107-1112 [2017-07-00; online 2017-05-22]
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EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
Young E, Noerenberg D, Mansouri L, ..., Rosenquist R, Damm F
Leukemia 31 (7) 1547-1554 [2017-07-00; online 2017-01-03]
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Blood transcriptomes and de novo identification of candidate loci for mating success in lekking great snipe (Gallinago media)
Höglund J, Wang B, Saether SA, ..., Kålås JA, Ekblom R
Mol Ecol 26 (13) 3458-3471 [2017-07-00; online 2017-04-28]
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Manning A, Highland HM, Gasser J, ..., Gloyn AL, Lindgren CM
Diabetes 66 (7) 2019-2032 [2017-07-00; online 2017-03-24]
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PubMed DOI Crossref
2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador.
Hernandez-Castro LE, Paterno M, Villacís AG, ..., Grijalva MJ, Llewellyn MS
PLoS Negl Trop Dis 11 (7) e0005710 [2017-07-00; online 2017-07-19]
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PubMed DOI Crossref
Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate
Feng C, Pettersson M, Lamichhaney S, ..., Folkvord A, Andersson L
Elife 6 (-) - [2017-06-30; online 2017-06-30]
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The wolf reference genome sequence (Canis lupus lupus) and its implications for Canis spp. population genomics.
Gopalakrishnan S, Samaniego Castruita JA, Sinding MS, ..., Dalén L, Gilbert MTP
BMC Genomics 18 (1) 495 [2017-06-29; online 2017-06-29]
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PubMed DOI Crossref
Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons
Li H, Reksten TR, Ice JA, ..., Sivils KL, None
PLoS Genet. 13 (6) e1006820 [2017-06-22; online 2017-06-22]
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Leucine Biosynthesis Is Involved in Regulating High Lipid Accumulation in Yarrowia lipolytica.
Kerkhoven EJ, Kim YM, Wei S, ..., Metz TO, Nielsen J
MBio 8 (3) - [2017-06-20; online 2017-06-20]
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Microbial Community Structure in a Serpentine-Hosted Abiotic Gas Seepage at the Chimaera Ophiolite, Turkey.
Neubeck A, Sun L, Müller B, ..., Broman C, Schnürer A
Appl. Environ. Microbiol. 83 (12) - [2017-06-15; online 2017-05-31]
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PubMed DOI Crossref
Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions
Shungin D, Deng WQ, Varga TV, ..., Franks PW, None
PLoS Genet. 13 (6) e1006812 [2017-06-14; online 2017-06-14]
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PubMed DOI Crossref
Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
Nolte IM, Munoz ML, Tragante V, ..., Snieder H, de Geus EJC
Nat Commun 8 (-) 15805 [2017-06-14; online 2017-06-14]
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Functional and Compositional Stability of Bacterial Metacommunities in Response to Salinity Changes
Berga M, Zha Y, Székely AJ, Langenheder S
Front Microbiol 8 (-) - [2017-06-08; online 2017-06-08]
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PubMed DOI Crossref
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, ..., Wikström J, Lerner UH
Sci Rep 7 (1) 3012 [2017-06-07; online 2017-06-07]
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Fast and general tests of genetic interaction for genome-wide association studies
Frånberg M, Strawbridge RJ, Hamsten A, ..., Sennblad B, None
PLoS Comput. Biol. 13 (6) e1005556 [2017-06-06; online 2017-06-06]
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PubMed DOI Crossref
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression.
Hauberg ME, Zhang W, Giambartolomei C, ..., Björkegren JLM, Roussos P
Am. J. Hum. Genet. 100 (6) 885-894 [2017-06-01; online 2017-05-25]
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PubMed DOI Crossref
Genome Sequence of Roseovarius mucosus Strain SMR3, Isolated from a Culture of the Diatom Skeletonema marinoi.
Töpel M, Pinder MIM, Johansson ON, ..., Godhe A, Clarke AK
Genome Announc 5 (22) - [2017-06-01; online 2017-06-01]
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DOI Crossref
Separating the effects of forage source and field microbiota on silage fermentation quality and aerobic stability
Mogodiniyai Kasmaei K, Dicksved J, Spörndly R, Udén P
Grass Forage Sci 72 (2) 281-289 [2017-06-00; online 2016-06-06]
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PubMed DOI Crossref
No evidence for MHC class II-based non-random mating at the gametic haplotype in Atlantic salmon
Promerová M, Alavioon G, Tusso S, Burri R, Immler S
Heredity 118 (6) 563-567 [2017-06-00; online 2017-01-18]
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PubMed DOI Crossref
Methylation of HPA axis related genes in men with hypersexual disorder
Jokinen J, Boström AE, Chatzittofis A, ..., Arver S, Schiöth HB
Psychoneuroendocrinology 80 (-) 67-73 [2017-06-00; online 2017-06-00]
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Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
Christophersen IE, Rienstra M, Roselli C, ..., Ellinor PT, AFGen Consortium
Nat. Genet. 49 (6) 946-952 [2017-06-00; online 2017-04-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene flow, ancient polymorphism, and ecological adaptation shape the genomic landscape of divergence among Darwin's finches
Han F, Lamichhaney S, Grant BR, ..., Andersson L, Webster MT
Genome Res. 27 (6) 1004-1015 [2017-06-00; online 2017-04-25]
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PubMed DOI Crossref
Contribution of different bacterial dispersal sources to lakes: Population and community effects in different seasons
Comte J, Berga M, Severin I, Logue JB, Lindström ES
Environ Microbiol 19 (6) 2391-2404 [2017-06-00; online 2017-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
Klar J, Ali Z, Farooq M, ..., Baig SM, Dahl N
Eur J Hum Genet 25 (7) 848-853 [2017-06-00; online 2017-05-10]
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PubMed DOI Crossref
A DNA methylation site within the KLF13 gene is associated with orexigenic processes based on neural responses and ghrelin levels.
Wiemerslage L, Islam R, van der Kamp C, ..., Benedict C, Schiöth HB
Int J Obes (Lond) 41 (6) 990-994 [2017-06-00; online 2017-02-14]
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PubMed DOI Crossref
Genetic susceptibility to cardiovascular disease and risk of dementia.
Karlsson IK, Ploner A, Song C, ..., Pedersen NL, Hägg S
Transl Psychiatry 7 (5) e1142 [2017-05-30; online 2017-05-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A subcellular map of the human proteome.
Thul PJ, Åkesson L, Wiking M, ..., Uhlén M, Lundberg E
Science 356 (6340) - [2017-05-26; online 2017-05-11]
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Type 2 diabetes and obesity induce similar transcriptional reprogramming in human myocytes.
Väremo L, Henriksen TI, Scheele C, ..., Pedersen BK, Nielsen J
Genome Med 9 (1) 47 [2017-05-25; online 2017-05-25]
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PubMed DOI Crossref
Draft Genome Sequence of the Mycoparasitic Oomycete Pythium oligandrum Strain CBS 530.74.
Kushwaha SK, Vetukuri RR, Grenville-Briggs LJ
Genome Announc 5 (21) - [2017-05-25; online 2017-05-25]
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Genome Sequence of a Bovine Rhinitis B Virus Identified in Cattle in Sweden
Blomström AL, Oma V, Khatri M, ..., Berg M, Myrmel M
Genome Announc 5 (19) e00172-17 [2017-05-11; online 2017-05-11]
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PubMed DOI Crossref
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.
Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A
F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]
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PubMed DOI Crossref
Spatially resolved transcriptome profiling in model plant species.
Giacomello S, Salmén F, Terebieniec BK, ..., Street NR, Lundeberg J
NPLANTS 3 (-) 17061 [2017-05-08; online 2017-05-08]
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PubMed DOI Crossref
Regulation of PfEMP1-VAR2CSA translation by a Plasmodium translation-enhancing factor.
Chan S, Frasch A, Mandava CS, ..., Sanyal S, Wahlgren M
Nat Microbiol 2 (-) 17068 [2017-05-08; online 2017-05-08]
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QTL mapping of stress related gene expression in a cross between domesticated chickens and ancestral red junglefowl.
Fallahsharoudi A, de Kock N, Johnsson M, ..., Wright D, Jensen P
Mol. Cell. Endocrinol. 446 (-) 52-58 [2017-05-05; online 2017-02-09]
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Two extended haplotype blocks are associated with adaptation to high altitude habitats in East African honey bees.
Wallberg A, Schöning C, Webster MT, Hasselmann M
PLoS Genet. 13 (5) e1006792 [2017-05-00; online 2017-05-25]
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PubMed DOI Crossref
Transcriptomics and methylomics of CD4-positive T cells in arsenic-exposed women.
Engström K, Wojdacz TK, Marabita F, ..., Vahter M, Broberg K
Arch. Toxicol. 91 (5) 2067-2078 [2017-05-00; online 2016-11-12]
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The chloroplast genome of Ephedra foeminea (Ephedraceae, Gnetales), an entomophilous gymnosperm endemic to the Mediterranean area.
Hou C, Wikström N, Rydin C
Mitochondrial DNA A DNA Mapp Seq Anal 28 (3) 330-331 [2017-05-00; online 2015-12-29]
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Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
Forsberg LA
Hum Genet 136 (5) 657-663 [2017-05-00; online 2017-04-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Induction of functional dopamine neurons from human astrocytes in vitro and mouse astrocytes in a Parkinson's disease model.
Rivetti di Val Cervo P, Romanov RA, Spigolon G, ..., Fisone G, Arenas E
Nat. Biotechnol. 35 (5) 444-452 [2017-05-00; online 2017-04-10]
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PubMed DOI Crossref
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M, Bergendal B, Norderyd J, ..., Nordgren A, Lindstrand A
Am. J. Med. Genet. A 173 (5) 1396-1399 [2017-05-00; online 2017-03-20]
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PubMed DOI Crossref
Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications.
Weissensteiner MH, Pang AWC, Bunikis I, ..., Suh A, Wolf JBW
Genome Res. 27 (5) 697-708 [2017-05-00; online 2017-03-30]
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Bayesian Inference of Allele-Specific Gene Expression Indicates Abundant Cis-Regulatory Variation in Natural Flycatcher Populations
Wang M, Uebbing S, Ellegren H
Genome Biol Evol 9 (5) 1266-1279 [2017-05-00; online 2017-05-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Mitochondrial genome divergence between beluga whales in Baffin Bay and the Sea of Okhotsk.
Skovrind M, Samaniego Castruita JA, Heide-Jørgensen MP, Dalén L, Lorenzen E
Mitochondrial DNA Part B 2 (1) 257-258 [2017-04-28; online 2017-04-28]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Does the sex of one's co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts.
Bogl LH, Jelenkovic A, Vuoksimaa E, ..., Silventoinen K, Kaprio J
Biol Sex Differ 8 (-) 14 [2017-04-27; online 2017-04-27]
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PubMed DOI Crossref
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
Justice AE, Winkler TW, Feitosa MF, ..., North KE, Cupples LA
Nat Commun 8 (-) 14977 [2017-04-26; online 2017-04-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Parallel adaptive evolution of geographically distant herring populations on both sides of the North Atlantic Ocean
Lamichhaney S, Fuentes-Pardo AP, Rafati N, ..., Ruzzante DE, Andersson L
Proc Natl Acad Sci USA 114 (17) E3452-E3461 [2017-04-25; online 2017-04-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Day FR, Thompson DJ, Helgason H, ..., Ong KK, Perry JRB
Nat Genet 49 (6) 834-841 [2017-04-24; online 2017-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Persistent Effects of Developmental Exposure to 17α-Ethinylestradiol on the Zebrafish (Danio rerio) Brain Transcriptome and Behavior
Porseryd T, Volkova K, Reyhanian Caspillo N, ..., Dinnetz P, Porsh Hällström I
Front. Behav. Neurosci. 11 (-) - [2017-04-20; online 2017-04-20]
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PubMed DOI Crossref
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, ..., Cammenga J, Bryceson YT
Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Anaerobic Methanotrophic Archaea of the ANME-2d Cluster Are Active in a Low-sulfate, Iron-rich Freshwater Sediment.
Weber HS, Habicht KS, Thamdrup B
Front Microbiol 8 (-) 619 [2017-04-12; online 2017-04-12]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Adaptation to infectious disease exposure in indigenous Southern African populations.
Owers KA, Sjödin P, Schlebusch CM, ..., Soodyall H, Jakobsson M
Proc. Biol. Sci. 284 (1852) 20170226 [2017-04-12; online 2017-04-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function
Wild PS, Felix JF, Schillert A, ..., Vasan RS, Dörr M
J Clin Invest. 127 (5) 1798-1812 [2017-04-10; online 2017-04-10]
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SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing.
Raine A, Manlig E, Wahlberg P, Syvänen AC, Nordlund J
Nucleic Acids Res. 45 (6) e36 [2017-04-07; online 2016-12-03]
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Draft Genome Sequences of Six Strains of Streptococcus pneumoniae from Serotypes 5, 6A, 6B, 18C, 19A, and 23F.
Jakobsson HE, Salvà-Serra F, Thorell K, ..., Kristiansson E, Moore ER
Genome Announc 5 (14) - [2017-04-06; online 2017-04-06]
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Complete Genome Sequences of the Xylose-Fermenting Candida intermedia Strains CBS 141442 and PYCC 4715
Moreno AD, Tellgren-Roth C, Soler L, ..., Olsson L, Geijer C
Genome Announc 5 (14) e00138-17 [2017-04-06; online 2017-04-06]
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Interactions of Freshwater Cyanobacteria with Bacterial Antagonists
Osman OA, Beier S, Grabherr M, Bertilsson S
Appl. Environ. Microbiol. 83 (7) e02634-16 [2017-04-01; online 2017-01-23]
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Whole-Genome Bisulfite Sequencing of Human Pancreatic Islets Reveals Novel Differentially Methylated Regions in Type 2 Diabetes Pathogenesis
Volkov P, Bacos K, Ofori JK, ..., Rönn T, Ling C
Diabetes 66 (4) 1074-1085 [2017-04-00; online 2017-01-04]
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Shift in fungal communities and associated enzyme activities along an age gradient of managed Pinus sylvestris stands
Kyaschenko J, Clemmensen KE, Hagenbo A, Karltun E, Lindahl BD
ISME J 11 (4) 863-874 [2017-04-00; online 2017-01-13]
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PubMed DOI Crossref
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
Folkersen L, Fauman E, Sabater-Lleal M, ..., Hamsten A, Mälarstig A
PLoS Genet. 13 (4) e1006706 [2017-04-00; online 2017-04-03]
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Genomic analysis reveals the presence of a class D beta-lactamase with broad substrate specificity in animal bite associated Capnocytophaga species.
Zangenah S, Andersson AF, Özenci V, Bergman P
Eur. J. Clin. Microbiol. Infect. Dis. 36 (4) 657-662 [2017-04-00; online 2016-12-03]
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Gene co-expression network connectivity is an important determinant of selective constraint.
Mähler N, Wang J, Terebieniec BK, ..., Street NR, Hvidsten TR
PLoS Genet. 13 (4) e1006402 [2017-04-00; online 2017-04-13]
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Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies.
Ek WE, Ahsan M, Rask-Andersen M, ..., Gyllensten U, Johansson Å
Epigenomics 9 (4) 407-418 [2017-04-00; online 2017-03-21]
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DOI Crossref
Effects of dietary inclusion of the yeasts Saccharomyces cerevisiae and Wickerhamomyces anomalus on gut microbiota of rainbow trout
Huyben D, Nyman A, Vidaković A, ..., Dicksved J, Lundh T
Aquaculture 473 (-) 528-537 [2017-04-00; online 2017-04-00]
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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, ..., Mäkitie O, Jüppner H
J. Bone Miner. Res. 32 (4) 776-783 [2017-04-00; online 2017-02-24]
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Genomic structure of the horse major histocompatibility complex class II region resolved using PacBio long-read sequencing technology
Viļuma A, Mikko S, Hahn D, ..., Andersson G, Bergström TF
Sci Rep 7 (-) 45518 [2017-03-31; online 2017-03-31]
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Improvement of identification methods for honeybee specific Lactic Acid Bacteria; future approaches.
Lamei S, Hu YO, Olofsson TC, ..., Forsgren E, Vásquez A
PLoS ONE 12 (3) e0174614 [2017-03-27; online 2017-03-27]
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Potential for hydrogen-oxidizing chemolithoautotrophic and diazotrophic populations to initiate biofilm formation in oligotrophic, deep terrestrial subsurface waters.
Wu X, Pedersen K, Edlund J, ..., Bertilsson S, Dopson M
Microbiome 5 (1) 37 [2017-03-23; online 2017-03-23]
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Draft Genome Sequence of the Mycoparasitic Oomycete Pythium periplocum Strain CBS 532.74.
Kushwaha SK, Vetukuri RR, Grenville-Briggs LJ
Genome Announc 5 (12) - [2017-03-23; online 2017-03-23]
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The evolutionary and phylogeographic history of woolly mammoths: a comprehensive mitogenomic analysis.
Chang D, Knapp M, Enk J, ..., Hofreiter M, Shapiro B
Sci Rep 7 (-) 44585 [2017-03-22; online 2017-03-22]
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PubMed DOI Crossref
Atrophin controls developmental signaling pathways via interactions with Trithorax-like
Yeung K, Boija A, Karlsson E, ..., Mannervik M, McNeill H
Elife 6 (-) - [2017-03-22; online 2017-03-22]
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PubMed DOI Crossref
Proteogenomics produces comprehensive and highly accurate protein-coding gene annotation in a complete genome assembly of Malassezia sympodialis.
Zhu Y, Engström PG, Tellgren-Roth C, ..., Scheynius A, Lehtiö J
Nucleic Acids Res. 45 (5) 2629-2643 [2017-03-17; online 2017-01-20]
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PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
Pan G, Ameur A, Enroth S, ..., Gyllensten U, Wadelius C
Nucleic Acids Res. 45 (5) 2408-2422 [2017-03-17; online 2016-12-10]
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Chromosome and Megaplasmid Sequences of Borrelia anserina (Sakharoff 1891), the Agent of Avian Spirochetosis and Type Species of the Genus
Elbir H, Sitlani P, Bergström S, Barbour AG
Genome Announc 5 (11) e00018-17 [2017-03-16; online 2017-03-16]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S, Wilbe M, Ekvall S, ..., Törmä H, Bondeson ML
Hum. Mol. Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-06]
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Microbial community assembly and evolution in subseafloor sediment
Starnawski P, Bataillon T, Ettema TJG, ..., Schramm A, Kjeldsen KU
Proc Natl Acad Sci USA 114 (11) 2940-2945 [2017-03-14; online 2017-02-27]
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Diverse origin of mitochondrial lineages in Iron Age Black Sea Scythians.
Juras A, Krzewińska M, Nikitin AG, ..., Dabert M, Götherström A
Sci Rep 7 (-) 43950 [2017-03-07; online 2017-03-07]
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Mating Changes Sexually Dimorphic Gene Expression in the Seed Beetle Callosobruchus maculatus.
Immonen E, Sayadi A, Bayram H, Arnqvist G
Genome Biol Evol 9 (3) 677-699 [2017-03-01; online 2017-04-10]
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PubMed DOI Crossref
Complete mitochondrial genome of the Oriental Hornet, Vespa orientalis F. (Hymenoptera: Vespidae).
Haddad NJ, Al-Nakeeb K, Petersen B, ..., Blom N, Sicheritz-Pontén T
Mitochondrial DNA Part B 2 (1) 139-140 [2017-03-01; online 2017-03-01]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Phylogenetic analysis of Monascus and new species from honey, pollen and nests of stingless bees
Barbosa RN, Leong SL, Vinnere-Pettersson O, ..., Oliveira NT, Houbraken J
Studies in Mycology 86 (-) 29-51 [2017-03-00; online 2017-03-00]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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Metapopulation theory identifies biogeographical patterns among core and satellite marine bacteria scaling from tens to thousands of kilometers.
Lindh MV, Sjöstedt J, Ekstam B, ..., Legrand C, Pinhassi J
Environ. Microbiol. 19 (3) 1222-1236 [2017-03-00; online 2017-02-06]
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PubMed DOI Crossref
Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent in Ficedula Flycatcher Genome Sequences
Kardos M, Qvarnström A, Ellegren H
Genetics 205 (3) 1319-1334 [2017-03-00; online 2017-01-18]
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PubMed DOI Crossref
Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.
Sarkisyan D, Bazov I, Watanabe H, ..., Yakovleva T, Bakalkin G
Acta Neuropathol. 133 (3) 485-487 [2017-03-00; online 2017-01-17]
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PubMed DOI Crossref
DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites.
Bergmann AK, Castellano G, Alten J, ..., Schrappe M, Siebert R
Pediatr Blood Cancer 64 (3) - [2017-03-00; online 2016-10-27]
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PubMed DOI Crossref
Antibody-encoding repertoires of bone marrow and peripheral blood—a focus on IgE
Levin M, Levander F, Palmason R, Greiff L, Ohlin M
Journal of Allergy and Clinical Immunology 139 (3) 1026-1030 [2017-03-00; online 2017-03-00]
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A genetic risk score is significantly associated with statin therapy response in the elderly population.
Ciuculete DM, Bandstein M, Benedict C, ..., Schiöth HB, Mwinyi J
Clin. Genet. 91 (3) 379-385 [2017-03-00; online 2016-12-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data.
Sandmann S, de Graaf AO, Karimi M, ..., Jansen JH, Dugas M
Sci Rep 7 (-) 43169 [2017-02-24; online 2017-02-24]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Covariation in levels of nucleotide diversity in homologous regions of the avian genome long after completion of lineage sorting
Dutoit L, Vijay N, Mugal CF, ..., Wolf J, Ellegren H
Proc. R. Soc. B 284 (1849) 20162756 [2017-02-22; online 2017-02-15]
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PubMed DOI Crossref
Clonal reversal of ageing-associated stem cell lineage bias via a pluripotent intermediate.
Wahlestedt M, Erlandsson E, Kristiansen T, ..., Martin-Gonzalez J, Bryder D
Nat Commun 8 (-) 14533 [2017-02-22; online 2017-02-22]
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PubMed DOI Crossref
Methane Production in Dairy Cows Correlates with Rumen Methanogenic and Bacterial Community Structure.
Danielsson R, Dicksved J, Sun L, ..., Schnürer A, Bertilsson J
Front Microbiol 8 (-) 226 [2017-02-17; online 2017-02-17]
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PubMed DOI Crossref
The mitochondrial genome sequences of the round goby and the sand goby reveal patterns of recent evolution in gobiid fish.
Adrian-Kalchhauser I, Svensson O, Kutschera VE, ..., Blomberg A, Burkhardt-Holm P
BMC Genomics 18 (1) 177 [2017-02-16; online 2017-02-16]
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Comparison of whole genome amplification techniques for human single cell exome sequencing.
Borgström E, Paterlini M, Mold JE, Frisen J, Lundeberg J
PLoS ONE 12 (2) e0171566 [2017-02-16; online 2017-02-16]
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Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
Power RA, Tansey KE, Buttenschøn HN, ..., Breen G, Lewis CM
Biol. Psychiatry 81 (4) 325-335 [2017-02-15; online 2016-08-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Distinct Anaerobic Bacterial Consumers of Cellobiose-Derived Carbon in Boreal Fens with Different CO2/CH4 Production Ratios
Juottonen H, Eiler A, Biasi C, ..., Yrjälä K, Fritze H
Appl. Environ. Microbiol. 83 (4) e02533-16 [2017-02-15; online 2016-12-02]
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PubMed DOI Crossref
The Baltic Sea Virome: Diversity and Transcriptional Activity of DNA and RNA Viruses.
Zeigler Allen L, McCrow JP, Ininbergs K, ..., Bergman B, Venter JC
mSystems 2 (1) - [2017-02-14; online 2017-02-14]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel RNA sequencing data analysis method for cell line authentication.
Fasterius E, Raso C, Kennedy S, ..., Uhlén M, Al-Khalili Szigyarto C
PLoS ONE 12 (2) e0171435 [2017-02-13; online 2017-02-13]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Genetic and Functional Study of L-Type Amino Acid Transporter 1 in Schizophrenia.
Comasco E, Vumma R, Toffoletto S, ..., Jönsson EG, Venizelos N
Neuropsychobiology 74 (2) 96-103 [2017-02-11; online 2017-02-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Detection of Somatic Mutations in Gastroenteropancreatic Neuroendocrine Tumors Using Targeted Deep Sequencing
BACKMAN S, NORLÉN O, ERIKSSON B, ..., STÅLBERG P, CRONA J
AR 37 (2) 705-712 [2017-02-10; online 2017-02-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
microRNAs with AAGUGC seed motif constitute an integral part of an oncogenic signaling network.
Zhou Y, Frings O, Branca RM, ..., Agami R, Orre LM
Oncogene 36 (6) 731-745 [2017-02-09; online 2016-08-01]
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PubMed DOI Crossref
Rare and low-frequency coding variants alter human adult height.
Marouli E, Graff M, Medina-Gomez C, ..., Deloukas P, Lettre G
Nature 542 (7640) 186-190 [2017-02-09; online 2017-02-01]
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Seasonal Variation in Abundance and Diversity of Bacterial Methanotrophs in Five Temperate Lakes
Samad MS, Bertilsson S
Front Microbiol 8 (-) - [2017-02-03; online 2017-02-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Posttranscriptional Regulation in Adenovirus Infected Cells.
Zhao H, Konzer A, Mi J, ..., Pettersson U, Lind SB
J. Proteome Res. 16 (2) 872-888 [2017-02-03; online 2016-12-13]
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PubMed DOI Crossref
The Human Adrenal Gland Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Bergman J, Botling J, Fagerberg L, ..., Uhlén M, Pontén F
Endocrinology 158 (2) 239-251 [2017-02-01; online 2016-12-03]
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PubMed DOI Crossref
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.
Sennblad B, Basu S, Mazur J, ..., Trégouët DA, Sabater-Lleal M
Hum. Mol. Genet. 26 (3) 637-649 [2017-02-01; online 2017-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.
Gianfrancesco MA, Glymour MM, Walter S, ..., Alfredsson L, Barcellos LF
Am. J. Epidemiol. 185 (3) 162-171 [2017-02-01; online 2017-01-12]
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]
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PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Schmidt AF, Swerdlow DI, Holmes MV, ..., UCLEB consortium , Sattar N
Lancet Diabetes Endocrinol 5 (2) 97-105 [2017-02-00; online 2016-12-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel seminal fluid proteins in the seed beetle Callosobruchus maculatus identified by a proteomic and transcriptomic approach.
Bayram H, Sayadi A, Goenaga J, Immonen E, Arnqvist G
Insect Mol. Biol. 26 (1) 58-73 [2017-02-00; online 2016-10-24]
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Meta-omic analyses of Baltic Sea cyanobacteria: diversity, community structure and salt acclimation.
Celepli N, Sundh J, Ekman M, ..., Bergman B, Ininbergs K
Environ. Microbiol. 19 (2) 673-686 [2017-02-00; online 2017-01-27]
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Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
Dalin MG, Engström PG, Ivarsson EG, ..., Andersson B, Bergo MO
International Journal of Cardiology 228 (-) 742-748 [2017-02-00; online 2017-02-00]
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig NC, Lüdecke HJ, Pettersson M, ..., Kleefstra T, Wieczorek D
Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]
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Genetic and Targeted eQTL Mapping Reveals Strong Candidate Genes Modulating the Stress Response During Chicken Domestication
Fallahsharoudi A, de Kock N, Johnsson M, ..., Wright D, Jensen P
G3 (Bethesda) 7 (2) 497-504 [2017-02-00; online 2016-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evolution of bird genomes-a transposon's-eye view.
Kapusta A, Suh A
Ann. N. Y. Acad. Sci. 1389 (1) 164-185 [2017-02-00; online 2016-12-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, Jall S, ..., Müller TD, Hebebrand J
Mol. Psychiatry 22 (2) 192-201 [2017-02-00; online 2016-05-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Effects of microbe- and mussel-based diets on the gut microbiota in Arctic charr ( Salvelinus alpinus )
Nyman A, Huyben D, Lundh T, Dicksved J
Aquaculture Reports 5 (-) 34-40 [2017-02-00; online 2017-02-00]
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PubMed DOI Crossref
Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells.
Ullmark T, Järvstråt L, Sandén C, ..., Nilsson B, Gullberg U
Haematologica 102 (2) 336-345 [2017-02-00; online 2016-09-09]
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Activation of myeloid and endothelial cells by CD40L gene therapy supports T-cell expansion and migration into the tumor microenvironment
Eriksson E, Moreno R, Milenova I, ..., Alemany R, Loskog A
Gene Ther 24 (2) 92-103 [2017-02-00; online 2016-12-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Bonfiglio F, Hysi PG, Ek W, ..., Schmidt PT, D'Amato M
Neurogastroenterol. Motil. 29 (2) - [2017-02-00; online 2016-08-04]
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Steige KA, Laenen B, Reimegård J, Scofield DG, Slotte T
Proc. Natl. Acad. Sci. U.S.A. 114 (5) 1087-1092 [2017-01-31; online 2017-01-17]
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Cimdins A, Lüthje P, Li F, ..., Brauner A, Römling U
Genome Announc 5 (4) - [2017-01-26; online 2017-01-26]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, Tromp G, Kuivaniemi H, ..., Samani NJ, Bown MJ
Circ. Res. 120 (2) 341-353 [2017-01-20; online 2016-12-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Hibar DP, Adams HH, Jahanshad N, ..., Thompson PM, Ikram MA
Nat Commun 8 (-) 13624 [2017-01-18; online 2017-01-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Ciuculete DM, Boström AE, Voisin S, ..., Mwinyi J, Schiöth HB
Transl Psychiatry 7 (1) e1002 [2017-01-17; online 2017-01-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Zaremba-Niedzwiedzka K, Caceres EF, Saw JH, ..., Spang A, Ettema TJG
Nature 541 (7637) 353-358 [2017-01-11; online 2017-01-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Odhams CA, Cortini A, Chen L, ..., Vyse TJ, Cunninghame Graham DS
Hum. Mol. Genet. - (-) ddw417 [2017-01-05; online 2017-01-05]
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Imputation-Based Fine-Mapping Suggests That Most QTL in an Outbred Chicken Advanced Intercross Body Weight Line Are Due to Multiple, Linked Loci.
Brandt M, Ahsan M, Honaker CF, Siegel PB, Carlborg Ö
G3 (Bethesda) 7 (1) 119-128 [2017-01-05; online 2017-01-05]
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Farkas SA, Sorbe BG, Nilsson TK
Epigenetics 12 (1) 19-26 [2017-01-02; online 2016-11-23]
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Comprehensive RNA sequencing of healthy human endometrium at two time points of the menstrual cycle.
Sigurgeirsson B, Åmark H, Jemt A, ..., Lundeberg J, Gidlöf S
Biol. Reprod. 96 (1) 24-33 [2017-01-01; online 2017-04-11]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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VAV1 regulates experimental autoimmune arthritis and is associated with anti-CCP negative rheumatoid arthritis.
Guerreiro-Cacais AO, Norin U, Gyllenberg A, ..., Kockum I, Padyukov L
Genes Immun. 18 (1) 48-56 [2017-01-00; online 2017-01-05]
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La Fleur L, Falk-Sorqvist E, Smeds P, ..., Moens L, Botling J
Journal of Thoracic Oncology 12 (1) S526-S527 [2017-01-00; online 2017-01-00]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
Chu AY, Deng X, Fisher VA, ..., Steinhauser ML, Fox CS
Nat. Genet. 49 (1) 125-130 [2017-01-00; online 2016-12-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Meta-GWAS Accuracy and Power (MetaGAP) Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.
de Vlaming R, Okbay A, Rietveld CA, ..., Thurik AR, Koellinger PD
PLoS Genet. 13 (1) e1006495 [2017-01-00; online 2017-01-17]
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Juras A, Chyleński M, Krenz-Niedbała M, ..., Jakobsson M, Dabert M
Forensic Sci Int Genet 26 (-) 30-39 [2017-01-00; online 2016-10-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample.
Lind L, Ng E, Ingelsson E, ..., Morris AP, Lind PM
Environ Int 98 (-) 212-218 [2017-01-00; online 2016-11-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Evolutionary engineering reveals divergent paths when yeast is adapted to different acidic environments.
Fletcher E, Feizi A, Bisschops MMM, ..., Siewers V, Nielsen J
Metab. Eng. 39 (-) 19-28 [2017-01-00; online 2016-11-02]
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Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.
Hedman ÅK, Mendelson MM, Marioni RE, ..., Levy D, Ingelsson E
Circ Cardiovasc Genet 10 (1) - [2017-01-00; online 2017-02-19]
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Emerging microbiota during cold storage and temperature abuse of ready-to-eat salad​
Söderqvist K, Ahmed Osman O, Wolff C, ..., Vågsholm I, Boqvist S
Infect Ecol Epidemiol 7 (1) 1328963 [2017-01-00; online 2017-06-06]
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Contribution of different dispersal sources to the metabolic response of lake bacterioplankton following a salinity change.
Comte J, Langenheder S, Berga M, Lindström ES
Environ. Microbiol. 19 (1) 251-260 [2017-01-00; online 2016-11-22]
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Marshall CR, Howrigan DP, Merico D, ..., Sebat J, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Nat. Genet. 49 (1) 27-35 [2017-01-00; online 2016-11-21]
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Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach.
Mendelson MM, Marioni RE, Joehanes R, ..., Levy D, Deary IJ
PLoS Med. 14 (1) e1002215 [2017-01-00; online 2017-01-17]
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Márquez A, Vidal-Bralo L, Rodríguez-Rodríguez L, ..., Alarcón-Riquelme ME, Martín J
Ann. Rheum. Dis. 76 (1) 286-294 [2017-01-00; online 2016-05-20]
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Guo Y, Jahmat N, Van Shaik T, ..., Andersson G, Humblot P
Reprod. Fertil. Dev. 29 (1) 170 [2017-00-00; online 2017-00-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2016

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Single-Nucleotide Polymorphisms and Cancer Risk, Tumor Recurrence, or Survival of Head and Neck Cancer Patients.
Laytragoon-Lewin N, Cederblad L, Andersson BÅ, ..., Löfgren S, Lewin F
Oncology 92 (3) 161-169 [2016-12-21; online 2016-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Identification of a Differentially Expressed TIR-NBS-LRR Gene in a Major QTL Associated to Leaf Rust Resistance in Salix.
Martin T, Rönnberg-Wästljung AC, Stenlid J, Samils B
PLoS ONE 11 (12) e0168776 [2016-12-21; online 2016-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia.
Pandzic T, Larsson J, He L, ..., Sjöblom T, Hellström M
Clin. Cancer Res. 22 (24) 6217-6227 [2016-12-15; online 2016-03-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
Ali Z, Klar J, Jameel M, ..., Baig S, Dahl N
J. Neurol. Sci. 371 (-) 105-111 [2016-12-15; online 2016-11-23]
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Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior.
Cornelis MC, Kacprowski T, Menni C, ..., Grabe HJ, Ingelsson E
Hum. Mol. Genet. 25 (24) 5472-5482 [2016-12-15; online 2016-10-06]
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Genetic Variants in CHIA and CHI3L1 Are Associated with the IgE Response to the Ascaris Resistance Marker ABA-1 and the Birch Pollen Allergen Bet v 1.
Acevedo N, Bornacelly A, Mercado D, ..., Scheynius A, Caraballo L
PLoS ONE 11 (12) e0167453 [2016-12-15; online 2016-12-15]
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Disentangling genetic and epigenetic determinants of ultrafast adaptation.
Gjuvsland AB, Zörgö E, Samy JK, ..., Omholt SW, Warringer J
Mol. Syst. Biol. 12 (12) 892 [2016-12-15; online 2016-12-15]
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TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M.
Henström M, Hadizadeh F, Beyder A, ..., Farrugia G, D'Amato M
Gut - (-) - [2016-12-14; online 2016-12-14]
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The In Vitro Stability of Circulating Tumour DNA.
Henao Diaz E, Yachnin J, Grönberg H, Lindberg J
PLoS ONE 11 (12) e0168153 [2016-12-13; online 2016-12-13]
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Clonal Variation in Drug and Radiation Response among Glioma-Initiating Cells Is Linked to Proneural-Mesenchymal Transition.
Segerman A, Niklasson M, Haglund C, ..., Segerman B, Westermark B
Cell Rep 17 (11) 2994-3009 [2016-12-13; online 2016-12-16]
Drug Discovery and Development (DDD) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Cluster Flow: A user-friendly bioinformatics workflow tool.
Ewels P, Krueger F, Käller M, Andrews S
F1000Res 5 (-) 2824 [2016-12-06; online 2016-12-06]
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A genetic risk score composed of rheumatoid arthritis risk alleles, HLA-DRB1 haplotypes, and response to TNFi therapy - results from a Swedish cohort study.
Jiang X, Askling J, Saevarsdottir S, ..., Viatte S, Frisell T
Arthritis Res. Ther. 18 (1) 288 [2016-12-03; online 2016-12-03]
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Viral Metagenomic Analysis Displays the Co-Infection Situation in Healthy and PMWS Affected Pigs.
Blomström AL, Fossum C, Wallgren P, Berg M
PLoS ONE 11 (12) e0166863 [2016-12-01; online 2016-12-01]
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Elucidating selection processes for antibiotic resistance in sewage treatment plants using metagenomics.
Bengtsson-Palme J, Hammarén R, Pal C, ..., Tysklind M, Larsson DG
Sci. Total Environ. 572 (-) 697-712 [2016-12-01; online 2016-08-21]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The disappearing San of southeastern Africa and their genetic affinities.
Schlebusch CM, Prins F, Lombard M, Jakobsson M, Soodyall H
Hum. Genet. 135 (12) 1365-1373 [2016-12-00; online 2016-09-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Regulation of amino-acid metabolism controls flux to lipid accumulation in Yarrowia lipolytica
Kerkhoven EJ, Pomraning KR, Baker SE, Nielsen J
npj Syst Biol Appl 2 (1) - [2016-12-00; online 2016-03-03]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams HH, Hibar DP, Chouraki V, ..., Ikram MA, Thompson PM
Nat. Neurosci. 19 (12) 1569-1582 [2016-12-00; online 2016-11-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N, Jansen R, de Vlaming R, ..., Snieder H, Mills MC
Nat. Genet. 48 (12) 1462-1472 [2016-12-00; online 2016-11-01]
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.
Eriksson D, Bianchi M, Landegren N, ..., Kämpe O, Pielberg GR
J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-02]
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Evolutionary History of the Nesophontidae, the Last Unplaced Recent Mammal Family.
Brace S, Thomas JA, Dalén L, ..., Barnes I, Turvey ST
Mol. Biol. Evol. 33 (12) 3095-3103 [2016-12-00; online 2016-09-15]
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Distribution and expression of microbial rhodopsins in the Baltic Sea and adjacent waters.
Brindefalk B, Ekman M, Ininbergs K, ..., Pinhassi J, Bergman B
Environ. Microbiol. 18 (12) 4442-4455 [2016-12-00; online 2016-06-17]
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Coetzeea brasiliensis gen. nov., sp. nov. isolated from larvae of Anopheles darlingi.
Kämpfer P, Glaeser SP, Marinotti O, ..., Busse HJ, Terenius O
Int. J. Syst. Evol. Microbiol. 66 (12) 5211-5217 [2016-12-00; online 2016-09-15]
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DNA methylation patterns associated with oxidative stress in an ageing population.
Hedman ÅK, Zilmer M, Sundström J, Lind L, Ingelsson E
BMC Med Genomics 9 (1) 72 [2016-11-25; online 2016-11-25]
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Phylogenetic Signals of Salinity and Season in Bacterial Community Composition Across the Salinity Gradient of the Baltic Sea.
Herlemann DP, Lundin D, Andersson AF, Labrenz M, Jürgens K
Front Microbiol 7 (-) 1883 [2016-11-24; online 2016-11-24]
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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
Bergendal B, Norderyd J, Zhou X, Klar J, Dahl N
BMC Med. Genet. 17 (1) 88 [2016-11-24; online 2016-11-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A Consensus Genome-scale Reconstruction of Chinese Hamster Ovary Cell Metabolism.
Hefzi H, Ang KS, Hanscho M, ..., Lee DY, Lewis NE
Cell Syst 3 (5) 434-443.e8 [2016-11-23; online 2016-11-25]
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Menkis A, Lynikienė J, Marčiulynas A, Gedminas A, Povilaitienė A
Bull. Entomol. Res. - (-) 1-8 [2016-11-22; online 2016-11-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A novel process of viral vector barcoding and library preparation enables high-diversity library generation and recombination-free paired-end sequencing.
Davidsson M, Diaz-Fernandez P, Schwich OD, ..., Wang G, Björklund T
Sci Rep 6 (-) 37563 [2016-11-22; online 2016-11-22]
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Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M, Diekmann L, Bonfiglio F, ..., Naim HY, D'Amato M
Gut - (-) - [2016-11-21; online 2016-11-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.
Varga TV, Kurbasic A, Aine M, ..., Renström F, Franks PW
Int J Epidemiol - (-) - [2016-11-17; online 2016-11-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Complete Genome Sequence of an African Swine Fever Virus Isolate from Sardinia, Italy.
Granberg F, Torresi C, Oggiano A, ..., De Mia GM, Belák S
Genome Announc 4 (6) - [2016-11-17; online 2016-11-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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An automated approach to prepare tissue-derived spatially barcoded RNA-sequencing libraries.
Jemt A, Salmén F, Lundmark A, ..., Yucel-Lindberg T, Lundeberg J
Sci Rep 6 (-) 37137 [2016-11-16; online 2016-11-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
Matsson H, Söderhäll C, Einarsdottir E, ..., Lundbäck B, Klar J
BMC Pulm Med 16 (1) 146 [2016-11-11; online 2016-11-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Targeting SOX9 for degradation to inhibit chemoresistance, metastatic spread, and recurrence.
Suryo Rahmanto A, Swartling FJ, Sangfelt O
Mol Cell Oncol 4 (1) e1252871 [2016-11-08; online 2016-11-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A metagenomic analysis displays the diverse microbial community of a vermicomposting system in Uganda.
Blomström AL, Lalander C, Komakech AJ, Vinnerås B, Boqvist S
Infect Ecol Epidemiol 6 (-) 32453 [2016-11-08; online 2016-11-08]
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Long-term effects of tree harvesting on ectomycorrhizal fungal communities in boreal Scots pine forests
Varenius K, Kårén O, Lindahl B, Dahlberg A
Forest Ecology and Management 380 (-) 41-49 [2016-11-00; online 2016-11-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia.
Teppo S, Laukkanen S, Liuksiala T, ..., Heinäniemi M, Lohi O
Genome Res. 26 (11) 1468-1477 [2016-11-00; online 2016-09-12]
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Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes.
Imgenberg-Kreuz J, Sandling JK, Almlöf JC, ..., Syvänen AC, Nordmark G
Ann. Rheum. Dis. 75 (11) 2029-2036 [2016-11-00; online 2016-02-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Iotchkova V, Huang J, Morris JA, ..., Auer PL, Soranzo N
Nat. Genet. 48 (11) 1303-1312 [2016-11-00; online 2016-10-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Bronson PG, Chang D, Bhangale T, ..., Graham RR, Behrens TW
Nat. Genet. 48 (11) 1425-1429 [2016-11-00; online 2016-10-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Acidithiobacillus ferrivorans SS3 presents little RNA transcript response related to cold stress during growth at 8 °C suggesting it is a eurypsychrophile.
Christel S, Fridlund J, Watkin EL, Dopson M
Extremophiles 20 (6) 903-913 [2016-11-00; online 2016-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Evolution of heterogeneous genome differentiation across multiple contact zones in a crow species complex.
Vijay N, Bossu CM, Poelstra JW, ..., Kryukov AP, Wolf JB
Nat Commun 7 (1) 13195 [2016-10-31; online 2016-10-31]
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Myrtennäs K, Marinov K, Johansson A, ..., Byström M, Forsman M
Infect Ecol Epidemiol 6 (-) 32838 [2016-10-26; online 2016-10-26]
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Dahlin AM, Wibom C, Ghasimi S, ..., Andersson U, Melin B
PLoS ONE 11 (10) e0163067 [2016-10-25; online 2016-10-25]
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Ma Y, Miao Y, Peng Z, ..., Nilsson S, Li C
Springerplus 5 (1) 1861 [2016-10-24; online 2016-10-24]
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Prokaryotic Responses to Ammonium and Organic Carbon Reveal Alternative CO2 Fixation Pathways and Importance of Alkaline Phosphatase in the Mesopelagic North Atlantic.
Baltar F, Lundin D, Palovaara J, ..., Herndl GJ, Pinhassi J
Front Microbiol 7 (-) 1670 [2016-10-21; online 2016-10-21]
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Over Expression of NANOS3 and DAZL in Human Embryonic Stem Cells.
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PLoS ONE 11 (10) e0165268 [2016-10-21; online 2016-10-21]
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Failure to Genotype: A Cautionary Note on an Elusive loxP Sequence.
Kreuger J, O'Callaghan P
PLoS ONE 11 (10) e0165012 [2016-10-21; online 2016-10-21]
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Gene-specific correlation of RNA and protein levels in human cells and tissues.
Edfors F, Danielsson F, Hallström BM, ..., Forsström B, Uhlén M
Mol. Syst. Biol. 12 (10) 883 [2016-10-20; online 2016-10-20]
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The Transcriptome of Rhabdomyosarcoma Cells Infected with Cytolytic and Non-Cytolytic Variants of Coxsackievirus B2 Ohio-1.
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PLoS ONE 11 (10) e0164548 [2016-10-19; online 2016-10-19]
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Penicillium arizonense, a new, genome sequenced fungal species, reveals a high chemical diversity in secreted metabolites.
Grijseels S, Nielsen JC, Randelovic M, ..., Workman M, Frisvad JC
Sci Rep 6 (-) 35112 [2016-10-14; online 2016-10-14]
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Massive and parallel expression profiling using microarrayed single-cell sequencing.
Vickovic S, Ståhl PL, Salmén F, ..., Frisén J, Lundeberg J
Nat Commun 7 (-) 13182 [2016-10-14; online 2016-10-14]
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Differential selection on pollen and pistil traits in relation to pollen competition in the context of a sexual conflict over timing of stigma receptivity.
Lankinen Å, Strandh M
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No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
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Sci Rep 6 (-) 35278 [2016-10-12; online 2016-10-12]
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Manzoor S, Schnürer A, Bongcam-Rudloff E, Müller B
Stand Genomic Sci 11 (-) 80 [2016-10-12; online 2016-10-12]
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Virome characterisation from Guthrie cards in children who later developed acute lymphoblastic leukaemia.
Bogdanovic G, Pou C, Barrientos-Somarribas M, ..., Andersson B, Gustafsson B
Br. J. Cancer 115 (8) 1008-1014 [2016-10-11; online 2016-08-24]
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Analysis of the brain mural cell transcriptome.
He L, Vanlandewijck M, Raschperger E, ..., Keller A, Betsholtz C
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The Demographic Development of the First Farmers in Anatolia.
Kılınç GM, Omrak A, Özer F, ..., Jakobsson M, Götherström A
Curr. Biol. 26 (19) 2659-2666 [2016-10-10; online 2016-08-04]
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The structure and diversity of human, animal and environmental resistomes.
Pal C, Bengtsson-Palme J, Kristiansson E, Larsson DG
Microbiome 4 (1) 54 [2016-10-07; online 2016-10-07]
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Picodroplet partitioned whole genome amplification of low biomass samples preserves genomic diversity for metagenomic analysis.
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Microbiome 4 (1) 52 [2016-10-06; online 2016-10-06]
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Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells.
La Manno G, Gyllborg D, Codeluppi S, ..., Arenas E, Linnarsson S
Cell 167 (2) 566-580.e19 [2016-10-06; online 2016-10-08]
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MultiQC: summarize analysis results for multiple tools and samples in a single report.
Ewels P, Magnusson M, Lundin S, Käller M
Bioinformatics 32 (19) 3047-3048 [2016-10-01; online 2016-06-16]
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Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.
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Diabetes 65 (10) 2980-2989 [2016-10-00; online 2016-07-20]
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Surendran P, Drenos F, Young R, ..., Howson JM, Munroe PB
Nat. Genet. 48 (10) 1151-1161 [2016-10-00; online 2016-09-13]
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Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness.
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Diabetes 65 (10) 2888-2899 [2016-10-00; online 2016-09-24]
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Polygenic associations of neurodevelopmental genes in suicide attempt.
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Personality Polygenes, Positive Affect, and Life Satisfaction.
Weiss A, Baselmans BM, Hofer E, ..., Bartels M, Luciano M
Twin Res Hum Genet 19 (5) 407-417 [2016-10-00; online 2016-08-23]
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Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.
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Diabetologia 59 (10) 2114-2124 [2016-10-00; online 2016-07-14]
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Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J, Zhao JJ, Zaghlool A, ..., Thuresson AC, Feuk L
J. Med. Genet. 53 (10) 697-704 [2016-10-00; online 2016-06-22]
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Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Walford GA, Gustafsson S, Rybin D, ..., Ingelsson E, Florez JC
Diabetes 65 (10) 3200-3211 [2016-10-00; online 2016-07-16]
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Genetic rescue in a severely inbred wolf population.
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Expression of Interferon-Stimulated Genes in Insulitic Pancreatic Islets of Patients Recently Diagnosed With Type 1 Diabetes.
Lundberg M, Krogvold L, Kuric E, Dahl-Jørgensen K, Skog O
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Effects of multiple dimensions of bacterial diversity on functioning, stability and multifunctionality.
Roger F, Bertilsson S, Langenheder S, Osman OA, Gamfeldt L
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Nowak C, Salihovic S, Ganna A, ..., Ingelsson E, Fall T
PLoS Genet. 12 (10) e1006379 [2016-10-00; online 2016-10-21]
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DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.
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Connectivity to the surface determines diversity patterns in subsurface aquifers of the Fennoscandian shield.
Hubalek V, Wu X, Eiler A, ..., Bertilsson S, Ionescu D
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Clonality of erythromycin resistance in Francisella tularensis.
Karlsson E, Golovliov I, Lärkeryd A, ..., Forsman M, Johansson A
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The domesticated brain: genetics of brain mass and brain structure in an avian species.
Henriksen R, Johnsson M, Andersson L, Jensen P, Wright D
Sci Rep 6 (1) 34031 [2016-09-30; online 2016-09-30]
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Feralisation targets different genomic loci to domestication in the chicken.
Johnsson M, Gering E, Willis P, ..., Friberg U, Wright D
Nat Commun 7 (-) 12950 [2016-09-30; online 2016-09-30]
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Genomic Regions Associated With Interspecies Communication in Dogs Contain Genes Related to Human Social Disorders.
Persson ME, Wright D, Roth LS, Batakis P, Jensen P
Sci Rep 6 (-) 33439 [2016-09-29; online 2016-09-29]
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Discovery of Novel Viruses in Mosquitoes from the Zambezi Valley of Mozambique.
Cholleti H, Hayer J, Abilio AP, ..., Berg M, Blomström AL
PLoS ONE 11 (9) e0162751 [2016-09-28; online 2016-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Lindqvist CM, Lundmark A, Nordlund J, ..., Berglund EC, Syvänen AC
Oncotarget 7 (39) 64071-64088 [2016-09-27; online 2016-09-04]
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Genomic distribution and estimation of nucleotide diversity in natural populations: perspectives from the collared flycatcher (Ficedula albicollis) genome.
Dutoit L, Burri R, Nater A, Mugal CF, Ellegren H
Mol Ecol Resour 17 (4) 586-597 [2016-09-26; online 2016-09-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.
Wang J, Skoog T, Einarsdottir E, ..., Kere J, Jiao H
Sci Rep 6 (-) 33256 [2016-09-16; online 2016-09-16]
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Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion.
Einarsdottir E, Hafrén L, Leinonen E, ..., Kere J, Mattila PS
Sci Rep 6 (-) 33240 [2016-09-16; online 2016-09-16]
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Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction
Rask-Andersen M, Martinsson D, Ahsan M, ..., Gyllensten U, Johansson Å
Hum. Mol. Genet. - (-) ddw302 [2016-09-15; online 2016-09-15]
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Morin A, Kwan T, Ge B, ..., Lathrop MG, Pastinen T
BMC Med Genomics 9 (1) 59 [2016-09-13; online 2016-09-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Ferreira PG, Oti M, Barann M, ..., Guigó R, Sammeth M
Sci Rep 6 (-) 32406 [2016-09-12; online 2016-09-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.
Mahajan A, Rodan AR, Le TH, ..., Morris AP, Franceschini N
Am. J. Hum. Genet. 99 (3) 636-646 [2016-09-01; online 2016-09-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, ..., Carroll CJ, Klopstock T
Am. J. Hum. Genet. 99 (3) 735-743 [2016-09-01; online 2016-08-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
Hannuksela M, Stattin EL, Klar J, ..., Sörensen K, Carlberg B
BMC Med. Genet. 17 (1) 61 [2016-09-01; online 2016-09-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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The Impact of Endurance Training on Human Skeletal Muscle Memory, Global Isoform Expression and Novel Transcripts.
Lindholm ME, Giacomello S, Werne Solnestam B, ..., Kjellqvist S, Sundberg CJ
PLoS Genet. 12 (9) e1006294 [2016-09-00; online 2016-09-22]
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PubMed DOI Crossref
Epigenome-wide analysis of DNA methylation reveals a rectal cancer-specific epigenomic signature.
Vymetalkova V, Vodicka P, Pardini B, ..., Nilsson TK, Farkas SA
Epigenomics 8 (9) 1193-1207 [2016-09-00; online 2016-08-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Electricity generation from an inorganic sulfur compound containing mining wastewater by acidophilic microorganisms.
Ni G, Christel S, Roman P, ..., Bijmans MF, Dopson M
Res. Microbiol. 167 (7) 568-575 [2016-09-00; online 2016-05-08]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Direct estimate of the rate of germline mutation in a bird.
Smeds L, Qvarnström A, Ellegren H
Genome Res. 26 (9) 1211-1218 [2016-09-00; online 2016-07-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Data on the expression of cellular lncRNAs in human adenovirus infected cells.
Chen M, Zhao H, Lind SB, Pettersson U
Data Brief 8 (-) 1263-1279 [2016-09-00; online 2016-08-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A genetic variant in proximity to the gene LYPLAL1 is associated with lower hunger feelings and increased weight loss following Roux-en-Y gastric bypass surgery.
Bandstein M, Mwinyi J, Ernst B, ..., Schultes B, Schiöth HB
Scand. J. Gastroenterol. 51 (9) 1050-1055 [2016-09-00; online 2016-05-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
Zaghlool A, Halvardson J, Zhao JJ, ..., Thuresson AC, Feuk L
Hum. Mutat. 37 (9) 964-975 [2016-09-00; online 2016-07-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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A Rickettsiales symbiont of amoebae with ancient features.
Schulz F, Martijn J, Wascher F, ..., Ettema TJ, Horn M
Environ. Microbiol. 18 (8) 2326-2342 [2016-09-00; online 2015-04-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A Genetic Risk Score Is Associated with Weight Loss Following Roux-en Y Gastric Bypass Surgery.
Bandstein M, Voisin S, Nilsson EK, ..., Mwinyi J, Schiöth HB
Obes Surg 26 (9) 2183-2189 [2016-09-00; online 2016-02-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Adipose Transcriptional Response to Insulin Is Determined by Obesity, Not Insulin Sensitivity.
Rydén M, Hrydziuszko O, Mileti E, ..., Daub CO, Arner P
Cell Rep 16 (9) 2317-2326 [2016-08-30; online 2016-08-23]
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Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study.
van der Laan SW, Fall T, Soumaré A, ..., Holmes MV, Asselbergs FW
J. Am. Coll. Cardiol. 68 (9) 934-945 [2016-08-30; online 2016-08-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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One-night sleep deprivation induces changes in the DNA methylation and serum activity indices of stearoyl-CoA desaturase in young healthy men.
Skuladottir GV, Nilsson EK, Mwinyi J, Schiöth HB
Lipids Health Dis 15 (1) 137 [2016-08-26; online 2016-08-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Oxidation and cyclization of casbene in the biosynthesis of Euphorbia factors from mature seeds of Euphorbia lathyris L.
Luo D, Callari R, Hamberger B, ..., Staerk D, Hamberger B
Proc. Natl. Acad. Sci. U.S.A. 113 (34) E5082-E5089 [2016-08-23; online 2016-08-11]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Identification of Multiple QTLs Linked to Neuropathology in the Engrailed-1 Heterozygous Mouse Model of Parkinson's Disease.
Kurowska Z, Jewett M, Brattås PL, ..., Brundin P, Swanberg M
Sci Rep 6 (-) 31701 [2016-08-23; online 2016-08-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Effects of wastewater treatment plant effluent inputs on planktonic metabolic rates and microbial community composition in the Baltic Sea
Vaquer-Sunyer R, Reader HE, Muthusamy S, ..., Conley DJ, Kritzberg ES
Biogeosciences 13 (16) 4751-4765 [2016-08-23; online 2016-08-23]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Single base resolution analysis of 5-hydroxymethylcytosine in 188 human genes: implications for hepatic gene expression.
Ivanov M, Kals M, Lauschke V, ..., Milani L, Ingelman-Sundberg M
Nucleic Acids Res. 44 (14) 6756-6769 [2016-08-19; online 2016-04-29]
Bioinformatics Support for Computational Resources [Service] Clinical Proteomics Mass spectrometry [Collaborative] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.
Franzén O, Ermel R, Cohain A, ..., Schadt EE, Björkegren JL
Science 353 (6301) 827-830 [2016-08-19; online 2016-08-20]
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Cellular Barcoding Links B-1a B Cell Potential to a Fetal Hematopoietic Stem Cell State at the Single-Cell Level.
Kristiansen TA, Jaensson Gyllenbäck E, Zriwil A, ..., Bryder D, Yuan J
Immunity 45 (2) 346-357 [2016-08-16; online 2016-08-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genome-scale DNA-binding profile of BarR, a β-alanine responsive transcription factor in the archaeon Sulfolobus acidocaldarius.
Liu H, Wang K, Lindås AC, Peeters E
BMC Genomics 17 (-) 569 [2016-08-08; online 2016-08-08]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, ..., Altshuler D, McCarthy MI
Nature 536 (7614) 41-47 [2016-08-04; online 2016-07-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Rapid and specific hypomethylation of enhancers in endothelial cells during adaptation to cell culturing.
Magnusson M, Larsson P, Lu EX, ..., Carén H, Jern S
Epigenetics 11 (8) 614-624 [2016-08-02; online 2016-06-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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ω-3 Polyunsaturated Fatty Acid Biomarkers and Coronary Heart Disease: Pooling Project of 19 Cohort Studies.
Del Gobbo LC, Imamura F, Aslibekyan S, ..., Mozaffarian D, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Fatty Acids and Outcomes Research Consortium (FORCe)
JAMA Intern Med 176 (8) 1155-1166 [2016-08-01; online 2016-07-01]
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On the reversibility of parasitism: adaptation to a free-living lifestyle via gene acquisitions in the diplomonad Trepomonas sp. PC1.
Xu F, Jerlström-Hultqvist J, Kolisko M, ..., Svärd SG, Andersson JO
BMC Biol. 14 (-) 62 [2016-08-01; online 2016-08-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F, Costantini A, Coles N, ..., Tüysüz B, Mäkitie O
J. Bone Miner. Res. 31 (8) 1577-1585 [2016-08-00; online 2016-03-19]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Remnants of marine bacterial communities can be retrieved from deep sediments in lakes of marine origin.
Langenheder S, Comte J, Zha Y, ..., Eiler A, Lindström ES
Environ Microbiol Rep 8 (4) 479-485 [2016-08-00; online 2016-03-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rapid Evolution of Genomic Imprinting in Two Species of the Brassicaceae.
Hatorangan MR, Laenen B, Steige KA, Slotte T, Köhler C
Plant Cell 28 (8) 1815-1827 [2016-08-00; online 2016-07-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Postprandial alterations in whole-blood DNA methylation are mediated by changes in white blood cell composition.
Rask-Andersen M, Bringeland N, Nilsson EK, ..., Benedict C, Schiöth HB
Am. J. Clin. Nutr. 104 (2) 518-525 [2016-08-00; online 2016-07-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Phytophthora infestans Argonaute 1 binds microRNA and small RNAs from effector genes and transposable elements.
Åsman AK, Fogelqvist J, Vetukuri RR, Dixelius C
New Phytol. 211 (3) 993-1007 [2016-08-00; online 2016-03-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose.
Cavalli M, Pan G, Nord H, ..., Wadelius C, Wadelius M
Pharmacogenomics 17 (12) 1305-1314 [2016-08-00; online 2016-02-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Gormley P, Anttila V, Winsvold BS, ..., Nyholt DR, Palotie A
Nat. Genet. 48 (8) 856-866 [2016-08-00; online 2016-06-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
Morris DL, Sheng Y, Zhang Y, ..., Cui Y, Vyse TJ
Nat. Genet. 48 (8) 940-946 [2016-08-00; online 2016-07-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.
Eriksson N, Wallentin L, Berglund L, ..., Yusuf S, Wadelius M
Pharmacogenomics 17 (13) 1425-1439 [2016-08-00; online 2016-08-04]
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Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) study.
Silventoinen K, Jelenkovic A, Sund R, ..., Boomsma DI, Kaprio J
Am. J. Clin. Nutr. 104 (2) 371-379 [2016-08-00; online 2016-07-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Assessing the taxonomic status of Osmoderma cristinae (Coleoptera: Scarabaeidae), endemic to Sicily, by genetic, morphological and pheromonal analyses
Zauli A, Carpaneto GM, Chiari S, ..., Bologna MA, Svensson GP
J Zool Syst Evol Res 54 (3) 206-214 [2016-08-00; online 2016-02-12]
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Adaptation to different types of stress converge on mitochondrial metabolism
Lahtvee PJ, Kumar R, Hallström BM, Nielsen J
Mol. Biol. Cell 27 (15) 2505-2514 [2016-08-00; online 2016-08-00]
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A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I, Alvarez-Mora MI, Rosell J, ..., Syvänen AC, Mila M
Eur. J. Hum. Genet. 24 (8) 1117-1123 [2016-08-00; online 2016-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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A new class of fatty acid allene oxide formed by the DOX-P450 fusion proteins of human and plant pathogenic fungi, C. immitis and Z. tritici.
Oliw EH, Aragó M, Chen Y, Jernerén F
J. Lipid Res. 57 (8) 1518-1528 [2016-08-00; online 2016-06-11]
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The De Novo Transcriptome and Its Functional Annotation in the Seed Beetle Callosobruchus maculatus.
Sayadi A, Immonen E, Bayram H, Arnqvist G
PLoS ONE 11 (7) e0158565 [2016-07-21; online 2016-07-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA Content in Extracellular Vesicles Isolated from Porcine Coronary Venous Blood Directly after Myocardial Ischemic Preconditioning.
Svennerholm K, Rodsand P, Hellman U, ..., Ronquist G, Haney M
PLoS ONE 11 (7) e0159105 [2016-07-19; online 2016-07-19]
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Abstract 2688: A forward genetics screen of murine brain tumors identifies novel candidate genes involved in gliomagenesis
Cancer M, Weishaupt H, Rosen G, ..., Ameur A, Swartling FJ
Cancer Res 76 (14 Supplement) 2688-2688 [2016-07-15; online 2016-07-22]
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Abstract 2473: Combined BET-bromodomain and CDK2 inhibition in MYC-driven medulloblastoma
Bolin S, Borgenvik A, Persson C, ..., Weishaupt H, Swartling FJ
Cancer Res 76 (14 Supplement) 2473-2473 [2016-07-15; online 2016-07-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification.
Reischauer S, Stone OA, Villasenor A, ..., Andersson O, Stainier DY
Nature 535 (7611) 294-298 [2016-07-14; online 2016-07-15]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.
Miller CL, Pjanic M, Wang T, ..., Björkegren JL, Quertermous T
Nat Commun 7 (-) 12092 [2016-07-08; online 2016-07-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Profiling cancer testis antigens in non-small-cell lung cancer.
Djureinovic D, Hallström BM, Horie M, ..., Uhlén M, Micke P
JCI Insight 1 (10) e86837 [2016-07-07; online 2016-07-07]
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Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
Rafati N, Andersson LS, Mikko S, ..., Lindgren G, Rubin CJ
G3 (Bethesda) 6 (7) 2213-2223 [2016-07-07; online 2016-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.
Kaartokallio T, Wang J, Heinonen S, ..., Kere J, Laivuori H
Sci Rep 6 (-) 29085 [2016-07-07; online 2016-07-07]
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PubMed DOI Crossref
Diversity and Expression of Bacterial Metacaspases in an Aquatic Ecosystem.
Asplund-Samuelsson J, Sundh J, Dupont CL, ..., Ininbergs K, Ekman M
Front Microbiol 7 (-) 1043 [2016-07-06; online 2016-07-06]
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PubMed DOI Crossref
Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (CIN3) identifies a new susceptibility locus.
Chen D, Enroth S, Liu H, ..., Xu S, Gyllensten U
Oncotarget 7 (27) 42216-42224 [2016-07-05; online 2016-06-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc.
Jeong C, Ozga AT, Witonsky DB, ..., Di Rienzo A, Warinner C
Proc. Natl. Acad. Sci. U.S.A. 113 (27) 7485-7490 [2016-07-05; online 2016-06-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Visualization and analysis of gene expression in tissue sections by spatial transcriptomics.
Ståhl PL, Salmén F, Vickovic S, ..., Lundeberg J, Frisén J
Science 353 (6294) 78-82 [2016-07-01; online 2016-07-02]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Fluorescence Tissue Profiling [Collaborative] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
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Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Mitchell JS, Li N, Weinhold N, ..., Nilsson B, Houlston RS
Nat Commun 7 (-) 12050 [2016-07-01; online 2016-07-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole genome duplication in coast redwood (Sequoia sempervirens) and its implications for explaining the rarity of polyploidy in conifers.
Scott AD, Stenz NW, Ingvarsson PK, Baum DA
New Phytol. 211 (1) 186-193 [2016-07-00; online 2016-03-22]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Variation in Linked Selection and Recombination Drive Genomic Divergence during Allopatric Speciation of European and American Aspens.
Wang J, Street NR, Scofield DG, Ingvarsson PK
Mol. Biol. Evol. 33 (7) 1754-1767 [2016-07-00; online 2016-03-18]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.
Tuominen R, Engström PG, Helgadottir H, ..., Hansson J, Höiom V
Genes Chromosomes Cancer 55 (7) 601-611 [2016-07-00; online 2016-04-14]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes.
Olsson L, Zettermark S, Biloglav A, ..., Paulsson K, Johansson B
Br. J. Haematol. 174 (2) 292-301 [2016-07-00; online 2016-03-31]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Increasing the power of genome wide association studies in natural populations using repeated measures - evaluation and implementation.
Rönnegård L, McFarlane SE, Husby A, ..., Ellegren H, Qvarnström A
Methods Ecol Evol 7 (7) 792-799 [2016-07-00; online 2016-02-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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An Integrative Genomic Analysis of Formalin Fixed Paraffin-Embedded Archived Serous Ovarian Carcinoma Comparing Long-term and Short-term Survivors.
Stålberg K, Crona J, Razmara M, ..., Skogseid B, Stålberg P
Int. J. Gynecol. Cancer 26 (6) 1027-1032 [2016-07-00; online 2016-05-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A draft fur seal genome provides insights into factors affecting SNP validation and how to mitigate them.
Humble E, Martinez-Barrio A, Forcada J, ..., Wolf JB, Hoffman JI
Mol Ecol Resour 16 (4) 909-921 [2016-07-00; online 2015-12-20]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Conserved 33-kb haplotype in the MHC class III region regulates chronic arthritis.
Yau AC, Tuncel J, Haag S, ..., Padyukov L, Holmdahl R
Proc. Natl. Acad. Sci. U.S.A. 113 (26) E3716-E3724 [2016-06-28; online 2016-06-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts.
Jelenkovic A, Sund R, Hur YM, ..., Kaprio J, Silventoinen K
Sci Rep 6 (-) 28496 [2016-06-23; online 2016-06-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Cryptosporidium as a testbed for single cell genome characterization of unicellular eukaryotes.
Troell K, Hallström B, Divne AM, ..., Beser J, Bertilsson S
BMC Genomics 17 (-) 471 [2016-06-23; online 2016-06-23]
Bioinformatics Support for Computational Resources [Service] Microbial Single Cell Genomics [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft Genome Sequence of Moraxella catarrhalis Type Strain CCUG 353T.
Jakobsson HE, Salvà-Serra F, Thorell K, ..., Kristiansson E, Moore ERB
Genome Announc 4 (3) e00552-16 [2016-06-16; online 2016-06-16]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Parental epigenetic asymmetry of PRC2-mediated histone modifications in the Arabidopsis endosperm.
Moreno-Romero J, Jiang H, Santos-González J, Köhler C
EMBO J. 35 (12) 1298-1311 [2016-06-15; online 2016-04-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Oligodendrocyte heterogeneity in the mouse juvenile and adult central nervous system.
Marques S, Zeisel A, Codeluppi S, ..., Linnarsson S, Castelo-Branco G
Science 352 (6291) 1326-1329 [2016-06-10; online 2016-06-11]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Recommendations on e-infrastructures for next-generation sequencing.
Spjuth O, Bongcam-Rudloff E, Dahlberg J, ..., Vezzi F, Korpelainen E
Gigascience 5 (-) 26 [2016-06-07; online 2016-06-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies.
Demirkan A, Lahti J, Direk N, ..., van Duijn CM, Räikkönen K
Psychol Med 46 (8) 1613-1623 [2016-06-00; online 2016-03-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Scolytus multistriatus associated with Dutch elm disease on the island of Gotland: phenology and communities of vectored fungi
Menkis A, Östbrant IL, Davydenko K, ..., Balalaikins M, Vasaitis R
Mycol Progress 15 (6) - [2016-06-00; online 2016-05-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Dumanski JP, Lambert JC, Rasi C, ..., Lind L, Forsberg LA
The American Journal of Human Genetics 98 (6) 1208-1219 [2016-06-00; online 2016-06-00]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Okbay A, Baselmans BM, De Neve JE, ..., Bartels M, Cesarini D
Nat. Genet. 48 (6) 624-633 [2016-06-00; online 2016-04-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population.
Hallberg P, Eriksson N, Ibañez L, ..., Wadelius M, EuDAC collaborators
Lancet Diabetes Endocrinol 4 (6) 507-516 [2016-06-00; online 2016-05-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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GPR44 is a pancreatic protein restricted to the human beta cell.
Hellström-Lindahl E, Danielsson A, Ponten F, ..., Johansson L, Eriksson O
Acta Diabetol 53 (3) 413-421 [2016-06-00; online 2015-10-14]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Epigenomics of Total Acute Sleep Deprivation in Relation to Genome-Wide DNA Methylation Profiles and RNA Expression.
Nilsson EK, Boström AE, Mwinyi J, Schiöth HB
OMICS 20 (6) 334-342 [2016-06-00; online 2016-06-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjögren's syndrome.
Brække Norheim K, Imgenberg-Kreuz J, Jonsdottir K, ..., Nordmark G, Omdal R
Rheumatology (Oxford) 55 (6) 1074-1082 [2016-06-00; online 2016-03-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Disruptive selection without genome-wide evolution across a migratory divide.
von Rönn JA, Shafer AB, Wolf JB
Mol. Ecol. 25 (11) 2529-2541 [2016-06-00; online 2016-01-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.
Golbus JR, Stitziel NO, Zhao W, ..., Reilly MP, CARDIoGRAMplusC4D, Myocardial Infarction Genetics (MIGen), Exome Sequencing Project and Early-Onset Myocardial Infarction (ESP EOMI), and the Pakistan Risk of Myocardial Infarction Study (PROMIS) Consortia*
Circ Cardiovasc Genet 9 (3) 250-258 [2016-06-00; online 2016-03-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals.
Cavalli M, Pan G, Nord H, ..., Wallerman O, Wadelius C
Genomics 107 (6) 248-254 [2016-06-00; online 2016-04-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Ivansson EL, Megquier K, Kozyrev SV, ..., Coates JR, Lindblad-Toh K
Proc. Natl. Acad. Sci. U.S.A. 113 (22) E3091-E3100 [2016-05-31; online 2016-05-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The POU/Oct Transcription Factor Pdm1/nub Is Necessary for a Beneficial Gut Microbiota and Normal Lifespan of Drosophila.
Dantoft W, Lundin D, Esfahani SS, Engström Y
J Innate Immun 8 (4) 412-426 [2016-05-28; online 2016-05-28]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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Thermotolerant yeasts selected by adaptive evolution express heat stress response at 30 °C.
Caspeta L, Chen Y, Nielsen J
Sci Rep 6 (-) 27003 [2016-05-27; online 2016-05-27]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A, Beauchamp JP, Fontana MA, ..., Cesarini D, Benjamin DJ
Nature 533 (7604) 539-542 [2016-05-26; online 2016-05-11]
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Metagenomic Analysis of the Indian Ocean Picocyanobacterial Community: Structure, Potential Function and Evolution.
Díez B, Nylander JA, Ininbergs K, ..., Rusch DB, Bergman B
PLoS ONE 11 (5) e0155757 [2016-05-19; online 2016-05-19]
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Effects of Dispersal and Initial Diversity on the Composition and Functional Performance of Bacterial Communities.
Zha Y, Berga M, Comte J, Langenheder S
PLoS ONE 11 (5) e0155239 [2016-05-16; online 2016-05-16]
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Minimal selective concentrations of tetracycline in complex aquatic bacterial biofilms.
Lundström SV, Östman M, Bengtsson-Palme J, ..., Flach CF, Larsson DG
Sci. Total Environ. 553 (-) 587-595 [2016-05-15; online 2016-03-05]
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Diversity of Pico- to Mesoplankton along the 2000 km Salinity Gradient of the Baltic Sea.
Hu YO, Karlson B, Charvet S, Andersson AF
Front Microbiol 7 (-) 679 [2016-05-12; online 2016-05-12]
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Determining breast cancer histological grade from RNA-sequencing data.
Wang M, Klevebring D, Lindberg J, ..., Grönberg H, Rantalainen M
Breast Cancer Res. 18 (1) 48 [2016-05-10; online 2016-05-10]
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PubMed DOI Crossref
Unscrambling Cyanobacteria Community Dynamics Related to Environmental Factors.
Bertos-Fortis M, Farnelid HM, Lindh MV, ..., Pinhassi J, Legrand C
Front Microbiol 7 (-) 625 [2016-05-09; online 2016-05-09]
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The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing.
Martinez Barrio A, Lamichhaney S, Fan G, ..., Xu X, Andersson L
Elife 5 (-) - [2016-05-03; online 2016-05-03]
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Schizophrenia and subsequent neighborhood deprivation: revisiting the social drift hypothesis using population, twin and molecular genetic data.
Sariaslan A, Fazel S, D'Onofrio BM, ..., Kuja-Halkola R, Lichtenstein P
Transl Psychiatry 6 (-) e796 [2016-05-03; online 2016-05-03]
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Epigenetic silencing of miR-26A1 in chronic lymphocytic leukemia and mantle cell lymphoma: Impact on EZH2 expression.
Kopparapu PK, Bhoi S, Mansouri L, ..., Rosenquist R, Kanduri M
Epigenetics 11 (5) 335-343 [2016-05-03; online 2016-04-08]
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mRNA GPR162 changes are associated with decreased food intake in rat, and its human genetic variants with impairments in glucose homeostasis in two Swedish cohorts.
Caruso V, Sreedharan S, Carlini VP, ..., Fredriksson R, Schiöth HB
Gene 581 (2) 139-145 [2016-05-01; online 2016-02-02]
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High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.
Rivera NV, Ronninger M, Shchetynsky K, ..., Padyukov L, Grunewald J
Am. J. Respir. Crit. Care Med. 193 (9) 1008-1022 [2016-05-01; online 2015-12-15]
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Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.
Mehta D, Tropf FC, Gratten J, ..., Weiser M, Wu JQ
JAMA Psychiatry 73 (5) 497-505 [2016-05-01; online 2016-03-24]
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nanoCAGE reveals 5' UTR features that define specific modes of translation of functionally related MTOR-sensitive mRNAs.
Gandin V, Masvidal L, Hulea L, ..., Larsson O, Topisirovic I
Genome Res. 26 (5) 636-648 [2016-05-00; online 2016-03-18]
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Whole-genome resequencing of extreme phenotypes in collared flycatchers highlights the difficulty of detecting quantitative trait loci in natural populations.
Kardos M, Husby A, McFarlane SE, Qvarnström A, Ellegren H
Mol Ecol Resour 16 (3) 727-741 [2016-05-00; online 2015-12-10]
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Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus.
Truvé K, Dickinson P, Xiong A, ..., Bannasch D, Lindblad-Toh K
PLoS Genet. 12 (5) e1006000 [2016-05-00; online 2016-05-12]
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Synchronous genetic turnovers across Western Eurasia in Late Pleistocene collared lemmings.
Palkopoulou E, Baca M, Abramson NI, ..., Stankovic A, Dalén L
Glob Chang Biol 22 (5) 1710-1721 [2016-05-00; online 2016-02-27]
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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Hytönen MK, Arumilli M, Lappalainen AK, ..., Drögemüller C, Lohi H
PLoS Genet. 12 (5) e1006037 [2016-05-00; online 2016-05-17]
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Microbial metagenomes from three aquifers in the Fennoscandian shield terrestrial deep biosphere reveal metabolic partitioning among populations.
Wu X, Holmfeldt K, Hubalek V, ..., Bertilsson S, Dopson M
ISME J 10 (5) 1192-1203 [2016-05-00; online 2015-10-21]
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High-Resolution Mapping of Crossover and Non-crossover Recombination Events by Whole-Genome Re-sequencing of an Avian Pedigree.
Smeds L, Mugal CF, Qvarnström A, Ellegren H
PLoS Genet. 12 (5) e1006044 [2016-05-00; online 2016-05-24]
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Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
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J. Neurooncol. 127 (3) 483-492 [2016-05-00; online 2016-02-04]
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Genetic loci on chromosome 5 are associated with circulating levels of interleukin-5 and eosinophil count in a European population with high risk for cardiovascular disease.
McLeod O, Silveira A, Valdes-Marquez E, ..., Strawbridge RJ, IMPROVE Study Group
Cytokine 81 (-) 1-9 [2016-05-00; online 2016-01-29]
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Divergence in gene expression within and between two closely related flycatcher species.
Uebbing S, Künstner A, Mäkinen H, ..., Searle SM, Ellegren H
Mol. Ecol. 25 (9) 2015-2028 [2016-05-00; online 2016-03-02]
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Distinct temporal changes in host cell lncRNA expression during the course of an adenovirus infection.
Zhao H, Chen M, Lind SB, Pettersson U
Virology 492 (-) 242-250 [2016-05-00; online 2016-03-24]
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Displacement of US-1 clonal lineage by a new lineage ofPhytophthora infestanson potato in Kenya and Uganda
Njoroge AW, Tusiime G, Forbes GA, Yuen JE
Plant Pathol 65 (4) 587-592 [2016-05-00; online 2015-09-16]
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DNA-metabarcoding uncovers the diversity of soil-inhabiting fungi in the tropical island of Puerto Rico
Urbina H, Scofield DG, Cafaro M, Rosling A
Mycoscience 57 (3) 217-227 [2016-05-00; online 2016-05-00]
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Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg S, Naess K, Eriksson M, ..., Wedell A, Wickström R
Eur. J. Paediatr. Neurol. 20 (3) 457-461 [2016-05-00; online 2016-03-16]
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Association mapping in Salix viminalis L. (Salicaceae) - identification of candidate genes associated with growth and phenology.
Hallingbäck HR, Fogelqvist J, Powers SJ, ..., Berlin S, Rönnberg-Wästljung AC
Glob Change Biol Bioenergy 8 (3) 670-685 [2016-05-00; online 2015-07-29]
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An obesity-associated risk allele within the FTO gene affects human brain activity for areas important for emotion, impulse control and reward in response to food images.
Wiemerslage L, Nilsson EK, Solstrand Dahlberg L, ..., Brooks SJ, Schiöth HB
Eur. J. Neurosci. 43 (9) 1173-1180 [2016-05-00; online 2016-01-23]
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Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
Cavalli M, Pan G, Nord H, ..., Lindblad Toh K, Wadelius C
Hum. Genet. 135 (5) 485-497 [2016-05-00; online 2016-03-20]
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Longitudinal genome-wide methylation study of Roux-en-Y gastric bypass patients reveals novel CpG sites associated with essential hypertension.
Boström AE, Mwinyi J, Voisin S, ..., Zhang K, Schiöth HB
BMC Med Genomics 9 (-) 20 [2016-04-22; online 2016-04-22]
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A beak size locus in Darwin's finches facilitated character displacement during a drought.
Lamichhaney S, Han F, Berglund J, ..., Grant PR, Andersson L
Science 352 (6284) 470-474 [2016-04-22; online 2016-04-23]
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Spatio-Temporal Interdependence of Bacteria and Phytoplankton during a Baltic Sea Spring Bloom.
Bunse C, Bertos-Fortis M, Sassenhagen I, ..., Pinhassi J, Legrand C
Front Microbiol 7 (-) 517 [2016-04-21; online 2016-04-21]
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Associations between a locus downstream DRD1 gene and cerebrospinal fluid dopamine metabolite concentrations in psychosis.
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Neurosci. Lett. 619 (-) 126-130 [2016-04-21; online 2016-03-10]
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Mutations in histone modulators are associated with prolonged survival during azacitidine therapy.
Tobiasson M, McLornan DP, Karimi M, ..., Mufti GJ, Hellström-Lindberg E
Oncotarget 7 (16) 22103-22115 [2016-04-19; online 2016-03-10]
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Cytosolic splice isoform of Hsp70 nucleotide exchange factor Fes1 is required for the degradation of misfolded proteins in yeast.
Gowda NK, Kaimal JM, Masser AE, ..., Friedländer MR, Andréasson C
Mol. Biol. Cell 27 (8) 1210-1219 [2016-04-15; online 2016-02-26]
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The Mycobacterium phlei Genome: Expectations and Surprises.
Das S, Pettersson BM, Behra PR, ..., Bhattacharya A, Kirsebom LA
Genome Biol Evol 8 (4) 975-985 [2016-04-08; online 2016-03-05]
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Transcriptomics resources of human tissues and organs.
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Mol. Syst. Biol. 12 (4) 862 [2016-04-04; online 2016-04-04]
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Sex-dependent expression of anti-Müllerian hormone (amh) and amh receptor 2 during sex organ differentiation and characterization of the Müllerian duct development in Xenopus tropicalis.
Jansson E, Mattsson A, Goldstone J, Berg C
Gen. Comp. Endocrinol. 229 (-) 132-144 [2016-04-01; online 2016-03-19]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.
Johansson Å, Eriksson N, Lindholm D, ..., Wallentin L, PLATO Investigators
Hum. Mol. Genet. 25 (7) 1447-1456 [2016-04-01; online 2016-02-26]
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CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array.
Marzouka NA, Nordlund J, Bäcklin CL, ..., Syvänen AC, Carlsson Almlöf J
Bioinformatics 32 (7) 1080-1082 [2016-04-01; online 2015-11-09]
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Replacement of the European wheat yellow rust population by new races from the centre of diversity in the near-Himalayan region
Hovmøller MS, Walter S, Bayles RA, ..., Ali S, de Vallavieille-Pope C
Plant Pathol 65 (3) 402-411 [2016-04-00; online 2015-07-20]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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RNA transcript sequencing reveals inorganic sulfur compound oxidation pathways in the acidophile Acidithiobacillus ferrivorans.
Christel S, Fridlund J, Buetti-Dinh A, ..., Watkin EL, Dopson M
FEMS Microbiol. Lett. 363 (7) - [2016-04-00; online 2016-03-10]
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One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.
Magnusson PK, Lee D, Chen X, ..., Feuk L, Pawitan Y
Twin Res Hum Genet 19 (2) 97-103 [2016-04-00; online 2016-02-22]
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Novel technologies applied to the nucleotide sequencing and comparative sequence analysis of the genomes of infectious agents in veterinary medicine.
Granberg F, Bálint Á, Belák S
Rev. - Off. Int. Epizoot. 35 (1) 25-42 [2016-04-00; online 2016-05-25]
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Global genome splicing analysis reveals an increased number of alternatively spliced genes with aging.
Rodríguez SA, Grochová D, McKenna T, ..., Erdos MR, Eriksson M
Aging Cell 15 (2) 267-278 [2016-04-00; online 2015-12-22]
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Gene regulatory mechanisms underpinning prostate cancer susceptibility.
Whitington T, Gao P, Song W, ..., Wei GH, Wiklund F
Nat. Genet. 48 (4) 387-397 [2016-04-00; online 2016-03-08]
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Fatal acquisition of vanD gene during vancomycin treatment of septicaemia caused by Enterococcus faecium.
Starlander G, Tellgren-Roth C, Melhus Å
J. Hosp. Infect. 92 (4) 409-410 [2016-04-00; online 2016-02-16]
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Effect of PTPN22 Gene Variant R620W on Type I Interferon Production Stimulated by Different Toll-like Receptor 7 Agonists: Comment on the Article by Wang et al.
Berggren O, Rönnblom L, Eloranta ML
Arthritis & rheumatology (Hoboken, N.J.) 68 (4) 1045 [2016-04-00; online 2016-01-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Digital image analysis outperforms manual biomarker assessment in breast cancer.
Stålhammar G, Fuentes Martinez N, Lippert M, ..., Grunkin M, Hartman J
Mod. Pathol. 29 (4) 318-329 [2016-04-00; online 2016-02-27]
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Adaptive major histocompatibility complex (MHC) and neutral genetic variation in two native Baltic Sea fishes (perch Perca fluviatilis and zander Sander lucioperca) with comparisons to an introduced and disease susceptible population in Australia (P. fluviatilis): assessing the risk of disease epidemics.
Faulks LK, Östman Ö
J. Fish Biol. 88 (4) 1564-1583 [2016-04-00; online 2016-03-05]
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Draft Genome Sequence of Streptococcus gordonii Type Strain CCUG 33482T.
Salvà-Serra F, Jakobsson HE, Thorell K, ..., Kristiansson E, Moore ER
Genome Announc 4 (2) e00175-16 [2016-03-24; online 2016-03-24]
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VEGFR2 pY949 signalling regulates adherens junction integrity and metastatic spread.
Li X, Padhan N, Sjöström EO, ..., Jansson L, Claesson-Welsh L
Nat Commun 7 (-) 11017 [2016-03-23; online 2016-03-23]
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The chemosensory receptors of codling moth Cydia pomonella-expression in larvae and adults.
Walker WB, Gonzalez F, Garczynski SF, Witzgall P
Sci Rep 6 (-) 23518 [2016-03-23; online 2016-03-23]
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Metagenomic analysis of bloodstream infections in patients with acute leukemia and therapy-induced neutropenia.
Gyarmati P, Kjellander C, Aust C, ..., Öhrmalm L, Giske CG
Sci Rep 6 (-) 23532 [2016-03-21; online 2016-03-21]
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The Intestinal Eukaryotic Virome in Healthy and Diarrhoeic Neonatal Piglets.
Karlsson OE, Larsson J, Hayer J, Berg M, Jacobson M
PLoS ONE 11 (3) e0151481 [2016-03-16; online 2016-03-16]
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Evolutionary history of host use, rather than plant phylogeny, determines gene expression in a generalist butterfly.
Celorio-Mancera Mde L, Wheat CW, Huss M, ..., Nylin S, Janz N
BMC Evol. Biol. 16 (-) 59 [2016-03-08; online 2016-03-08]
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Whole genome sequencing identifies a novel species of the genus Capnocytophaga isolated from dog and cat bite wounds in humans.
Zangenah S, Abbasi N, Andersson AF, Bergman P
Sci Rep 6 (-) 22919 [2016-03-07; online 2016-03-07]
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Fast, accurate, and lightweight analysis of BS-treated reads with ERNE 2.
Prezza N, Vezzi F, Käller M, Policriti A
BMC Bioinformatics 17 Suppl 4 (-) 69 [2016-03-02; online 2016-03-02]
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The influence of population structure on gene expression and flowering time variation in the ubiquitous weed Capsella bursa-pastoris (Brassicaceae).
Kryvokhyzha D, Holm K, Chen J, ..., Lagercrantz U, Lascoux M
Mol. Ecol. 25 (5) 1106-1121 [2016-03-00; online 2016-01-23]
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T-cell receptor-HLA-DRB1 associations suggest specific antigens in pulmonary sarcoidosis.
Grunewald J, Kaiser Y, Ostadkarampour M, ..., Ronninger M, Eklund A
Eur. Respir. J. 47 (3) 898-909 [2016-03-00; online 2015-11-19]
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Reclassification of Wolbachia persica as Francisella persica comb. nov. and emended description of the family Francisellaceae.
Larson MA, Nalbantoglu U, Sayood K, ..., Sjöstedt A, Hinrichs SH
Int. J. Syst. Evol. Microbiol. 66 (3) 1200-1205 [2016-03-00; online 2016-01-10]
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PSMC analysis of effective population sizes in molecular ecology and its application to black-and-white Ficedula flycatchers.
Nadachowska-Brzyska K, Burri R, Smeds L, Ellegren H
Mol. Ecol. 25 (5) 1058-1072 [2016-03-00; online 2016-01-23]
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Natural Selection and Recombination Rate Variation Shape Nucleotide Polymorphism Across the Genomes of Three Related Populus Species.
Wang J, Street NR, Scofield DG, Ingvarsson PK
Genetics 202 (3) 1185-1200 [2016-03-00; online 2016-01-02]
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Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.
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Behav. Genet. 46 (2) 170-182 [2016-03-00; online 2015-09-13]
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Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Franke B, Stein JL, Ripke S, ..., Medland SE, Sullivan PF
Nat. Neurosci. 19 (3) 420-431 [2016-03-00; online 2016-02-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Estimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma.
Fransson S, Östensson M, Djos A, ..., Kogner P, Martinsson T
Int. J. Oncol. 48 (3) 1103-1116 [2016-03-00; online 2016-01-23]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Coordinated Changes in Gene Expression Throughout Encystation of Giardia intestinalis.
Einarsson E, Troell K, Hoeppner MP, ..., Ribacke U, Svärd SG
PLoS Negl Trop Dis 10 (3) e0004571 [2016-03-00; online 2016-03-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bacterial community composition and fhs profiles of low- and high-ammonia biogas digesters reveal novel syntrophic acetate-oxidising bacteria.
Müller B, Sun L, Westerholm M, Schnürer A
Biotechnol Biofuels 9 (-) 48 [2016-02-27; online 2016-02-27]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations.
Ljungström V, Cortese D, Young E, ..., Sjöblom T, Rosenquist R
Blood 127 (8) 1007-1016 [2016-02-25; online 2015-12-18]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information.
Edsgärd D, Iglesias MJ, Reilly SJ, ..., Odeberg J, Emanuelsson O
Sci Rep 6 (-) 21134 [2016-02-18; online 2016-02-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Resting-State Brain and the FTO Obesity Risk Allele: Default Mode, Sensorimotor, and Salience Network Connectivity Underlying Different Somatosensory Integration and Reward Processing between Genotypes.
Olivo G, Wiemerslage L, Nilsson EK, ..., Brooks SJ, Schiöth HB
Front Hum Neurosci 10 (-) 52 [2016-02-17; online 2016-02-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic comparison of Escherichia coli serotype O103:H2 isolates with and without verotoxin genes: implications for risk assessment of strains commonly found in ruminant reservoirs.
Söderlund R, Hurel J, Jinnerot T, ..., Eriksson E, Bongcam-Rudloff E
Infect Ecol Epidemiol 6 (-) 30246 [2016-02-16; online 2016-02-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic inference of the metabolism of cosmopolitan subsurface Archaea, Hadesarchaea.
Baker BJ, Saw JH, Lind AE, ..., Teske AP, Ettema TJG
Nat Microbiol 1 (-) 16002 [2016-02-15; online 2016-02-15]
Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15.
Ek WE, Hedman ÅK, Enroth S, ..., Lind L, Johansson Å
Hum. Mol. Genet. 25 (4) 817-827 [2016-02-15; online 2015-12-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome sequencing in one family with gastric- and rectal cancer.
Thutkawkorapin J, Picelli S, Kontham V, ..., Nilsson D, Lindblom A
BMC Genet. 17 (-) 41 [2016-02-13; online 2016-02-13]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide profiling of histone H3 lysine 27 and lysine 4 trimethylation in multiple myeloma reveals the importance of Polycomb gene targeting and highlights EZH2 as a potential therapeutic target.
Agarwal P, Alzrigat M, Párraga AA, ..., Kalushkova A, Jernberg-Wiklund H
Oncotarget 7 (6) 6809-6823 [2016-02-09; online 2016-01-13]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Xenacoelomorpha is the sister group to Nephrozoa.
Cannon JT, Vellutini BC, Smith J, ..., Jondelius U, Hejnol A
Nature 530 (7588) 89-93 [2016-02-04; online 2016-02-06]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
Lu Y, Day FR, Gustafsson S, ..., Kilpeläinen TO, Loos RJF
Nat Commun 7 (1) 10495 [2016-02-01; online 2016-02-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Kilpeläinen TO, Carli JF, Skowronski AA, ..., Leibel RL, Loos RJ
Nat Commun 7 (-) 10494 [2016-02-01; online 2016-02-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Worldwide population structure of the wheat rust fungus Puccinia striiformis in the past.
Thach T, Ali S, de Vallavieille-Pope C, Justesen AF, Hovmøller MS
Fungal Genet. Biol. 87 (-) 1-8 [2016-02-00; online 2016-01-03]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.
Choi SH, Ruggiero D, Sorice R, ..., Seshadri S, Ciullo M
PLoS Genet. 12 (2) e1005874 [2016-02-00; online 2016-02-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Replacement of two amino acids of 9R-dioxygenase-allene oxide synthase of Aspergillus niger inverts the chirality of the hydroperoxide and the allene oxide.
Sooman L, Wennman A, Hamberg M, Hoffmann I, Oliw EH
Biochim. Biophys. Acta 1861 (2) 108-118 [2016-02-00; online 2015-11-26]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.
Imsland F, McGowan K, Rubin CJ, ..., Barsh GS, Andersson L
Nat. Genet. 48 (2) 152-158 [2016-02-00; online 2015-12-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.
Cheng YC, Stanne TM, Giese AK, ..., Saleheen D, Mitchell BD
Stroke 47 (2) 307-316 [2016-02-00; online 2016-01-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic profiling in CD4+ and CD8+ T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling.
Limbach M, Saare M, Tserel L, ..., Milani L, Peterson P
J. Autoimmun. 67 (-) 46-56 [2016-02-00; online 2015-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Complete Knockout of Endogenous Mdr1 ( Abcb1 ) in MDCK Cells by CRISPR-Cas9
Simoff I, Karlgren M, Backlund M, ..., Matsson P, Artursson P
Journal of Pharmaceutical Sciences 105 (2) 1017-1021 [2016-02-00; online 2016-02-00]
Chemical Biology Consortium Sweden (CBCS) [Technology development] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content.
Pekar G, Davies H, Lukacs AP, ..., Dumanski J, Tot T
Histopathology 68 (3) 411-421 [2016-02-00; online 2015-06-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes.
Franke L, el Bannoudi H, Jansen DT, ..., Toes RE, Zhernakova A
Eur. J. Hum. Genet. 24 (2) 263-270 [2016-02-00; online 2015-05-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Are freshwater bacterioplankton indifferent to variable types of amino acid substrates?
Ricão Canelhas M, Eiler A, Bertilsson S
FEMS Microbiol. Ecol. 92 (2) - [2016-02-00; online 2016-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing.
Bergfors A, Leenheer D, Bergqvist A, Ameur A, Lennerstrand J
Antiviral Res. 126 (-) 81-89 [2016-02-00; online 2015-12-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Analyses of the ash dieback pathogen,Hymenoscyphus fraxineus, suggest role of tree species diversity on colonization and population structure differentiation
Nguyen DT, Cleary MR, Enderle R, Berlin A, Stenlid J
For. Path. 46 (1) 82-84 [2016-02-00; online 2015-10-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.
Massinen S, Wang J, Laivuori K, ..., Jiao H, Kere J
J Neurodev Disord 8 (-) 4 [2016-01-27; online 2016-01-27]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic Evidence Establishes Anatolia as the Source of the European Neolithic Gene Pool.
Omrak A, Günther T, Valdiosera C, ..., Jakobsson M, Götherström A
Curr. Biol. 26 (2) 270-275 [2016-01-25; online 2015-12-31]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, ..., Kao WH, Fox CS
Nat Commun 7 (1) 10023 [2016-01-21; online 2016-01-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Reconstructing ecosystem functions of the active microbial community of the Baltic Sea oxygen depleted sediments.
Thureborn P, Franzetti A, Lundin D, Sjöling S
PeerJ 4 (-) e1593 [2016-01-19; online 2016-01-19]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Geographical distribution of genetic diversity in Secale landrace and wild accessions.
Hagenblad J, Oliveira HR, Forsberg NE, Leino MW
BMC Plant Biol. 16 (-) 23 [2016-01-19; online 2016-01-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project.
Martin-Fernandez L, Ziyatdinov A, Carrasco M, ..., Souto JC, Soria JM
PLoS ONE 11 (1) e0146922 [2016-01-19; online 2016-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Using Whole-Exome Sequencing to Identify Genetic Markers for Carboplatin and Gemcitabine-Induced Toxicities.
Gréen H, Hasmats J, Kupershmidt I, ..., Peterson C, Lundeberg J
Clin. Cancer Res. 22 (2) 366-373 [2016-01-15; online 2015-09-16]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
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A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
de Vries PS, Chasman DI, Sabater-Lleal M, ..., Strachan DP, Dehghan A
Hum. Mol. Genet. 25 (2) 358-370 [2016-01-15; online 2015-11-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.
Johansson MM, Lundin E, Qian X, ..., Nilsson M, Jazin E
Biol Sex Differ 7 (-) 5 [2016-01-12; online 2016-01-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.
Sayyab S, Viluma A, Bergvall K, ..., Andersson G, Bergström TF
G3 (Bethesda) 6 (3) 521-527 [2016-01-08; online 2016-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identifying Novel Gene Variants in Coronary Artery Disease and Shared Genes With Several Cardiovascular Risk Factors.
LeBlanc M, Zuber V, Andreassen BK, ..., Dale AM, Andreassen OA
Circ. Res. 118 (1) 83-94 [2016-01-08; online 2015-10-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax).
Lamichhaney S, Fan G, Widemo F, ..., Liu X, Andersson L
Nat. Genet. 48 (1) 84-88 [2016-01-00; online 2015-11-17]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein Biomarkers for Insulin Resistance and Type 2 Diabetes Risk in Two Large Community Cohorts.
Nowak C, Sundström J, Gustafsson S, ..., Ingelsson E, Fall T
Diabetes 65 (1) 276-284 [2016-01-00; online 2015-09-29]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, ..., Nishimura G, Grigelioniene G
Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, ..., Syvänen AC, Nordlund J
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Syk Lundberg E
Clin. Genet. 89 (1) 99-103 [2016-01-00; online 2015-02-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
G×E Interaction Influences Trajectories of Hand Grip Strength.
Petersen I, Pedersen NL, Rantanen T, ..., Krueger RF, Reynolds C
Behav. Genet. 46 (1) 20-30 [2016-01-00; online 2015-09-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-Environment Interplay in Physical, Psychological, and Cognitive Domains in Mid to Late Adulthood: Is APOE a Variability Gene?
Reynolds CA, Gatz M, Christensen K, ..., Pedersen NL, Interplay of Genes and Environment across Multiple Studies (IGEMS) consortium
Behav. Genet. 46 (1) 4-19 [2016-01-00; online 2015-11-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
F11 is associated with recurrent VTE in women. A prospective cohort study.
Bruzelius M, Ljungqvist M, Bottai M, ..., Lärfars G, Odeberg J
Thromb. Haemost. 115 (2) 406-414 [2016-01-00; online 2015-10-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Development of single-tube nested real-time PCR assays with long internally quenched probes for detection of norovirus genogroup II.
Xia H, Gravelsina S, Öhrmalm C, Ottoson J, Blomberg J
BioTechniques 60 (1) 28-34 [2016-01-00; online 2016-01-01]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Composition of human faecal microbiota in resistance to Campylobacter infection.
Kampmann C, Dicksved J, Engstrand L, Rautelin H
Clin. Microbiol. Infect. 22 (1) 61.e1-61.e8 [2016-01-00; online 2015-09-16]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis.
Jiang X, Källberg H, Chen Z, ..., Padyukov L, Alfredsson L
Rheumatology (Oxford) 55 (1) 149-155 [2016-01-00; online 2015-08-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Adaptive radiation of Darwin's finches revisited using whole genome sequencing.
Almén MS, Lamichhaney S, Berglund J, ..., Webster MT, Andersson L
Bioessays 38 (1) 14-20 [2016-01-00; online 2015-11-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Overexpression of Trypanosoma rangeli trypanothione reductase increases parasite survival under oxidative stress
BELTRAME-BOTELHO IT, STOCO PH, STEINDEL M, ..., GADELHA FR, GRISARD EC
Parasitology Open 2 (-) - [2016-00-00; online 2016-11-14]
NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2015

PubMed DOI Crossref
The Urinary Bladder Transcriptome and Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Habuka M, Fagerberg L, Hallström BM, ..., Yamamoto T, Uhlen M
PLoS ONE 10 (12) e0145301 [2015-12-22; online 2015-12-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling [Collaborative]
PubMed DOI Crossref
Sequence and gene expression evolution of paralogous genes in willows.
Harikrishnan SL, Pucholt P, Berlin S
Sci Rep 5 (-) 18662 [2015-12-22; online 2015-12-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome analysis reveals mucin 4 to be highly associated with periodontitis and identifies pleckstrin as a link to systemic diseases.
Lundmark A, Davanian H, Båge T, ..., Lundeberg J, Yucel-Lindberg T
Sci Rep 5 (-) 18475 [2015-12-21; online 2015-12-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide genetic homogeneity between sexes and populations for human height and body mass index.
Yang J, Bakshi A, Zhu Z, ..., Ingelsson E, Visscher PM
Hum. Mol. Genet. 24 (25) 7445-7449 [2015-12-20; online 2015-10-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis.
Lekman M, Karlsson R, Graae L, Hössjer O, Kockum I
BioData Mining 8 (-) 42 [2015-12-18; online 2015-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Metagenome-assembled genomes uncover a global brackish microbiome.
Hugerth LW, Larsson J, Alneberg J, ..., Pinhassi J, Andersson AF
Genome Biol. 16 (-) 279 [2015-12-14; online 2015-12-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Metagenome-Based Metabolic Reconstruction Reveals the Ecophysiological Function of Epsilonproteobacteria in a Hydrocarbon-Contaminated Sulfidic Aquifer.
Keller AH, Schleinitz KM, Starke R, ..., Vogt C, Kleinsteuber S
Front Microbiol 6 (-) 1396 [2015-12-10; online 2015-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Soler Artigas M, Wain LV, Miller S, ..., Hall IP, Tobin MD
Nat Commun 6 (-) 8658 [2015-12-04; online 2015-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Quantitative Trait Locus and Genetical Genomics Analysis Identifies Putatively Causal Genes for Fecundity and Brooding in the Chicken.
Johnsson M, Jonsson KB, Andersson L, Jensen P, Wright D
G3 (Bethesda) 6 (2) 311-319 [2015-12-04; online 2015-12-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population structure and genetic diversity in the nannandrous moss Homalothecium lutescens: does the dwarf male system facilitate gene flow?
Rosengren F, Hansson B, Cronberg N
BMC Evol. Biol. 15 (-) 270 [2015-12-03; online 2015-12-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity.
Hägg S, Ganna A, Van Der Laan SW, ..., Pawitan Y, Ingelsson E
Hum. Mol. Genet. 24 (23) 6849-6860 [2015-12-01; online 2015-09-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Dietary Fiber-Induced Improvement in Glucose Metabolism Is Associated with Increased Abundance of Prevotella.
Kovatcheva-Datchary P, Nilsson A, Akrami R, ..., Björck I, Bäckhed F
Cell Metab. 22 (6) 971-982 [2015-12-01; online 2015-11-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The Plant Genome Integrative Explorer Resource: PlantGenIE.org.
Sundell D, Mannapperuma C, Netotea S, ..., Hvidsten TR, Street NR
New Phytol. 208 (4) 1149-1156 [2015-12-00; online 2015-07-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Selenium metabolism to the trimethylselenonium ion (TMSe) varies markedly because of polymorphisms in the indolethylamine N-methyltransferase gene.
Kuehnelt D, Engström K, Skröder H, ..., Broberg K, Vahter M
Am. J. Clin. Nutr. 102 (6) 1406-1415 [2015-12-00; online 2015-11-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Klar J, Raykova D, Gustafson E, ..., Wanders A, Dahl N
Eur. J. Hum. Genet. 23 (12) 1679-1683 [2015-12-00; online 2015-03-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Oral microbiota in patients with atherosclerosis.
Fåk F, Tremaroli V, Bergström G, Bäckhed F
Atherosclerosis 243 (2) 573-578 [2015-12-00; online 2015-11-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass.
Bahl A, Pöllänen E, Ismail K, ..., Kovanen V, Ollikainen M
Twin Res Hum Genet 18 (6) 647-661 [2015-12-00; online 2015-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ, Ferreira T, Lee Y, ..., Morris AP, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 47 (12) 1415-1425 [2015-12-00; online 2015-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Bentham J, Morris DL, Cunninghame Graham DS, ..., Alarcón-Riquelme ME, Vyse TJ
Nat. Genet. 47 (12) 1457-1464 [2015-12-00; online 2015-10-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Freshwater protists do not go with the flow: population structure in Gonyostomum semen independent of connectivity among lakes.
Sassenhagen I, Sefbom J, Säll T, Godhe A, Rengefors K
Environ. Microbiol. 17 (12) 5063-5072 [2015-12-00; online 2015-07-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Experiences with workflows for automating data-intensive bioinformatics
Spjuth O, Bongcam-Rudloff E, Hernández GC, ..., Siretskiy A, Vassilev D
Biol. Direct 10 (1) - [2015-12-00; online 2015-08-19]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Bacterial diversity along a 2600 km river continuum.
Savio D, Sinclair L, Ijaz UZ, ..., Farnleitner AH, Eiler A
Environ. Microbiol. 17 (12) 4994-5007 [2015-12-00; online 2015-04-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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De novo assembly of Dekkera bruxellensis: a multi technology approach using short and long-read sequencing and optical mapping.
Olsen RA, Bunikis I, Tiukova I, ..., Käller M, Vezzi F
Gigascience 4 (-) 56 [2015-11-26; online 2015-11-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Genome-Wide Association Study Identifies That the ABO Blood Group System Influences Interleukin-10 Levels and the Risk of Clinical Events in Patients with Acute Coronary Syndrome.
Johansson Å, Alfredsson J, Eriksson N, Wallentin L, Siegbahn A
PLoS ONE 10 (11) e0142518 [2015-11-24; online 2015-11-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons.
Mellerup E, Andreassen OA, Bennike B, ..., Werge T, Moeller GL
PLoS ONE 10 (11) e0143432 [2015-11-20; online 2015-11-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A Conserved Odorant Receptor Detects the Same 1-Indanone Analogs in a Tortricid and a Noctuid Moth
Gonzalez F, Bengtsson JM, Walker WB, ..., Ignell R, Bengtsson M
Front. Ecol. Evol. 3 (-) - [2015-11-19; online 2015-11-19]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Single cell analysis of cancer cells using an improved RT-MLPA method has potential for cancer diagnosis and monitoring.
Kvastad L, Werne Solnestam B, Johansson E, ..., Latta D, Lundeberg J
Sci Rep 5 (-) 16519 [2015-11-12; online 2015-11-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Working draft genome sequence of the mesophilic acetate oxidizing bacterium Syntrophaceticus schinkii strain Sp3.
Manzoor S, Müller B, Niazi A, Schnürer A, Bongcam-Rudloff E
Stand Genomic Sci 10 (-) 99 [2015-11-11; online 2015-11-11]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Normalization of Host Intestinal Mucus Layers Requires Long-Term Microbial Colonization.
Johansson ME, Jakobsson HE, Holmén-Larsson J, ..., Bäckhed F, Hansson GC
Cell Host Microbe 18 (5) 582-592 [2015-11-11; online 2015-11-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Effect of genetic and environmental factors on protein biomarkers for common non-communicable disease and use of personally normalized plasma protein profiles (PNPPP).
Enroth S, Bosdotter Enroth S, Johansson Å, Gyllensten U
Biomarkers 20 (6-7) 355-364 [2015-11-09; online 2015-11-09]
Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure PLA and Single Cell Proteomics [Service]
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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, ..., Okazaki Y, Wedell A
Am. J. Hum. Genet. 97 (5) 761-768 [2015-11-05; online 2015-11-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models.
Chen X, Kuja-Halkola R, Rahman I, ..., Pedersen NL, Magnusson PK
Am. J. Hum. Genet. 97 (5) 708-714 [2015-11-05; online 2015-11-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma.
Huang J, Löhr JM, Nilsson M, ..., Zheng Z, Ye W
Clin. Chem. 61 (11) 1408-1416 [2015-11-00; online 2015-09-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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The Role of FTO and Vitamin D for the Weight Loss Effect of Roux-en-Y Gastric Bypass Surgery in Obese Patients.
Bandstein M, Schultes B, Ernst B, ..., Schiöth HB, Benedict C
Obes Surg 25 (11) 2071-2077 [2015-11-00; online 2015-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The Human Endometrium-Specific Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Zieba A, Sjöstedt E, Olovsson M, ..., Uhlen M, Ponten F
OMICS 19 (11) 659-668 [2015-11-00; online 2015-10-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling [Technology development]
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Single-cell genomics of a rare environmental alphaproteobacterium provides unique insights into Rickettsiaceae evolution.
Martijn J, Schulz F, Zaremba-Niedzwiedzka K, ..., Guy L, Ettema TJ
ISME J 9 (11) 2373-2385 [2015-11-00; online 2015-04-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Resolving Evolutionary Relationships in Closely Related Species with Whole-Genome Sequencing Data.
Nater A, Burri R, Kawakami T, Smeds L, Ellegren H
Syst. Biol. 64 (6) 1000-1017 [2015-11-00; online 2015-07-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, ..., Wredenberg A, Wedell A
J. Med. Genet. 52 (11) 779-783 [2015-11-00; online 2015-06-19]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Population genetic differentiation of height and body mass index across Europe.
Robinson MR, Hemani G, Medina-Gomez C, ..., Yang J, Visscher PM
Nat. Genet. 47 (11) 1357-1362 [2015-11-00; online 2015-09-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Einarsdottir E, Svensson I, Darki F, ..., Kere J, Matsson H
Hum. Genet. 134 (11-12) 1239-1248 [2015-11-00; online 2015-09-25]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Linked selection and recombination rate variation drive the evolution of the genomic landscape of differentiation across the speciation continuum of Ficedula flycatchers.
Burri R, Nater A, Kawakami T, ..., Török J, Ellegren H
Genome Res. 25 (11) 1656-1665 [2015-11-00; online 2015-09-09]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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High-Throughput Sequencing Reveals Drastic Changes in Fungal Communities in the Phyllosphere of Norway Spruce (Picea abies) Following Invasion of the Spruce Bud Scale (Physokermes piceae).
Menkis A, Marčiulynas A, Gedminas A, Lynikienė J, Povilaitienė A
Microb. Ecol. 70 (4) 904-911 [2015-11-00; online 2015-06-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.
Moens LN, Falk-Sörqvist E, Ljungström V, ..., Nilsson M, Botling J
J Mol Diagn 17 (6) 729-739 [2015-11-00; online 2015-09-03]
Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genus-Wide Comparative Genomics of Malassezia Delineates Its Phylogeny, Physiology, and Niche Adaptation on Human Skin.
Wu G, Zhao H, Li C, ..., Nagarajan N, Dawson TL
PLoS Genet. 11 (11) e1005614 [2015-11-00; online 2015-11-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Ek WE, Reznichenko A, Ripke S, ..., Wouters MM, D'Amato M
Gut 64 (11) 1774-1782 [2015-11-00; online 2014-09-23]
Mutation Analysis Facility (MAF) NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Quinolone resistance mutations in the faecal microbiota of Swedish travellers to India.
Johnning A, Kristiansson E, Angelin M, ..., Johansson A, Larsson DG
BMC Microbiol. 15 (-) 235 [2015-10-24; online 2015-10-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Nurr1 and Retinoid X Receptor Ligands Stimulate Ret Signaling in Dopamine Neurons and Can Alleviate α-Synuclein Disrupted Gene Expression.
Volakakis N, Tiklova K, Decressac M, ..., Björklund A, Perlmann T
J. Neurosci. 35 (42) 14370-14385 [2015-10-21; online 2015-10-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genetic Polymorphisms in Vitamin D Metabolism and Signaling Genes and Risk of Breast Cancer: A Nested Case-Control Study.
Clendenen TV, Ge W, Koenig KL, ..., Sund M, Zeleniuch-Jacquotte A
PLoS ONE 10 (10) e0140478 [2015-10-21; online 2015-10-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Membrane vesicle-mediated release of bacterial RNA.
Sjöström AE, Sandblad L, Uhlin BE, Wai SN
Sci Rep 5 (-) 15329 [2015-10-20; online 2015-10-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genome-wide transcriptional and physiological responses to drought stress in leaves and roots of two willow genotypes.
Pucholt P, Sjödin P, Weih M, Rönnberg-Wästljung AC, Berlin S
BMC Plant Biol. 15 (-) 244 [2015-10-12; online 2015-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Brachyspira suanatina sp. nov., an enteropathogenic intestinal spirochaete isolated from pigs and mallards: genomic and phenotypic characteristics.
Mushtaq M, Zubair S, Råsbäck T, Bongcam-Rudloff E, Jansson DS
BMC Microbiol. 15 (-) 208 [2015-10-12; online 2015-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.
Voisin S, Almén MS, Zheleznyakova GY, ..., Rask-Andersen M, Schiöth HB
Genome Med 7 (-) 103 [2015-10-08; online 2015-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system.
Viluma A, Sayyab S, Mikko S, Andersson G, Bergström TF
Canine Genet Epidemiol 2 (-) 16 [2015-10-08; online 2015-10-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Comparative Sigma Factor-mRNA Levels in Mycobacterium marinum under Stress Conditions and during Host Infection.
Pettersson BM, Das S, Behra PR, ..., Ennis DG, Kirsebom LA
PLoS ONE 10 (10) e0139823 [2015-10-07; online 2015-10-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Crosstalk between Gut Microbiota and Dietary Lipids Aggravates WAT Inflammation through TLR Signaling.
Caesar R, Tremaroli V, Kovatcheva-Datchary P, Cani PD, Bäckhed F
Cell Metab. 22 (4) 658-668 [2015-10-06; online 2015-09-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Standing genetic variation as a major contributor to adaptation in the Virginia chicken lines selection experiment.
Sheng Z, Pettersson ME, Honaker CF, Siegel PB, Carlborg Ö
Genome Biol. 16 (-) 219 [2015-10-01; online 2015-10-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Spatiotemporal Heterogeneity Characterizes the Genetic Landscape of Pheochromocytoma and Defines Early Events in Tumorigenesis.
Crona J, Backman S, Maharjan R, ..., Hellman P, Björklund P
Clin. Cancer Res. 21 (19) 4451-4460 [2015-10-01; online 2015-05-21]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Kaiser VB, Svinti V, Prendergast JG, ..., Semple CA, Wilson JF
Hum. Mol. Genet. 24 (19) 5464-5474 [2015-10-01; online 2015-07-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis.
Grauers A, Wang J, Einarsdottir E, ..., Kere J, Gerdhem P
Spine J 15 (10) 2239-2246 [2015-10-01; online 2015-05-20]
Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.
Schuster J, Halvardson J, Pilar Lorenzo L, ..., Feuk L, Dahl N
Cell Reprogram 17 (5) 327-337 [2015-10-00; online 2015-09-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Winkler TW, Justice AE, Graff M, ..., Kutalik Z, Loos RJ
PLoS Genet. 11 (10) e1005378 [2015-10-00; online 2015-10-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.
Forsberg LA, Rasi C, Pekar G, ..., Tot T, Dumanski JP
Genome Res. 25 (10) 1521-1535 [2015-10-00; online 2015-10-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Quantitative Mass Spectrometry Reveals Partial Translational Regulation for Dosage Compensation in Chicken.
Uebbing S, Konzer A, Xu L, ..., Bergquist J, Ellegren H
Mol. Biol. Evol. 32 (10) 2716-2725 [2015-10-00; online 2015-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.
Chase A, Leung W, Tapper W, ..., Dumanski JP, Cross NC
Leukemia 29 (10) 2069-2074 [2015-10-00; online 2015-06-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Isolation of novel IncA/C and IncN fluoroquinolone resistance plasmids from an antibiotic-polluted lake.
Flach CF, Johnning A, Nilsson I, ..., Kristiansson E, Larsson DG
J. Antimicrob. Chemother. 70 (10) 2709-2717 [2015-10-00; online 2015-07-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index.
Yang J, Bakshi A, Zhu Z, ..., Goddard ME, Visscher PM
Nat. Genet. 47 (10) 1114-1120 [2015-10-00; online 2015-09-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Cis-Regulatory Changes Associated with a Recent Mating System Shift and Floral Adaptation in Capsella.
Steige KA, Reimegård J, Koenig D, Scofield DG, Slotte T
Mol. Biol. Evol. 32 (10) 2501-2514 [2015-10-00; online 2015-08-28]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Nikpay M, Goel A, Won HH, ..., Farrall M, CARDIoGRAMplusC4D Consortium
Nat. Genet. 47 (10) 1121-1130 [2015-10-00; online 2015-09-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A New Method for Detecting Associations with Rare Copy-Number Variants.
Tzeng JY, Magnusson PK, Sullivan PF, Swedish Schizophrenia Consortium , Szatkiewicz JP
PLoS Genet. 11 (10) e1005403 [2015-10-00; online 2015-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Cerebrospinal fluid monoamine metabolite concentrations as intermediate phenotypes between glutamate-related genes and psychosis.
Andreou D, Söderman E, Axelsson T, ..., Agartz I, Jönsson EG
Psychiatry Res 229 (1-2) 497-504 [2015-09-30; online 2015-07-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Serendipitous Meta-Transcriptomics: The Fungal Community of Norway Spruce (Picea abies).
Delhomme N, Sundström G, Zamani N, ..., Grabherr MG, Street NR
PLoS ONE 10 (9) e0139080 [2015-09-28; online 2015-09-28]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Exploring microbial dark matter to resolve the deep archaeal ancestry of eukaryotes.
Saw JH, Spang A, Zaremba-Niedzwiedzka K, ..., Guy L, Ettema TJG
Philos. Trans. R. Soc. Lond., B, Biol. Sci. 370 (1678) 20140328 [2015-09-26; online 2015-09-02]
Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The genomes of three stocks comprising the most widely utilized live sporozoite Theileria parva vaccine exhibit very different degrees and patterns of sequence divergence.
Norling M, Bishop RP, Pelle R, ..., Daubenberger CA, Silva JC
BMC Genomics 16 (-) 729 [2015-09-24; online 2015-09-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques.
Günther T, Valdiosera C, Malmström H, ..., Götherström A, Jakobsson M
Proc. Natl. Acad. Sci. U.S.A. 112 (38) 11917-11922 [2015-09-22; online 2015-09-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Gene expression profiling of pre-eclamptic placentae by RNA sequencing.
Kaartokallio T, Cervera A, Kyllönen A, ..., Laivuori H, FINNPEC Core Investigator Group
Sci Rep 5 (-) 14107 [2015-09-21; online 2015-09-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Draft genome sequence of 'Treponema phagedenis' strain V1, isolated from bovine digital dermatitis.
Mushtaq M, Manzoor S, Pringle M, Rosander A, Bongcam-Rudloff E
Stand Genomic Sci 10 (-) 67 [2015-09-21; online 2015-09-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
PARP1- and CTCF-Mediated Interactions between Active and Repressed Chromatin at the Lamina Promote Oscillating Transcription.
Zhao H, Sifakis EG, Sumida N, ..., Imreh MP, Göndör A
Mol. Cell 59 (6) 984-997 [2015-09-17; online 2015-08-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genetic and morphological evidence for introgression between three species of willows.
Fogelqvist J, Verkhozina AV, Katyshev AI, ..., Lascoux M, Berlin S
BMC Evol. Biol. 15 (-) 193 [2015-09-16; online 2015-09-16]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg I, Hofmeister W, Markljung E, ..., Lindstrand A, Nordenskjöld A
Hum. Mol. Genet. 24 (18) 5069-5078 [2015-09-15; online 2015-06-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Comprehensive analysis of microRNA expression in regionalized human neural progenitor cells reveals microRNA-10 as a caudalizing factor.
Jönsson ME, Nelander Wahlestedt J, Åkerblom M, ..., Jakobsson J, Parmar M
Development 142 (18) 3166-3177 [2015-09-15; online 2015-09-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.
Rask-Andersen M, Sällman Almén M, Jacobsson JA, ..., Fredriksson R, Schiöth HB
Genet Res (Camb) 97 (-) e16 [2015-09-14; online 2015-09-14]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Huffman JE, de Vries PS, Morrison AC, ..., O'Donnell CJ, Smith NL
Blood 126 (11) e19-e29 [2015-09-10; online 2015-06-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Paternally expressed imprinted genes establish postzygotic hybridization barriers in Arabidopsis thaliana.
Wolff P, Jiang H, Wang G, Santos-González J, Köhler C
Elife 4 (-) - [2015-09-07; online 2015-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High cortisol in 5-year-old children causes loss of DNA methylation in SINE retrotransposons: a possible role for ZNF263 in stress-related diseases.
Nätt D, Johansson I, Faresjö T, Ludvigsson J, Thorsell A
Clin Epigenetics 7 (-) 91 [2015-09-04; online 2015-09-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, ..., Wedell A, Kurian MA
Nat Commun 6 (-) 8038 [2015-09-03; online 2015-09-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Transplanted Bone Marrow-Derived Cells Contribute to Human Adipogenesis.
Rydén M, Uzunel M, Hård JL, ..., Mattsson J, Arner P
Cell Metab. 22 (3) 408-417 [2015-09-01; online 2015-07-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
An Exopolysaccharide-Deficient Mutant of Lactobacillus rhamnosus GG Efficiently Displays a Protective Llama Antibody Fragment against Rotavirus on Its Surface.
Álvarez B, Krogh-Andersen K, Tellgren-Roth C, ..., Hammarström L, Marcotte H
Appl. Environ. Microbiol. 81 (17) 5784-5793 [2015-09-01; online 2015-06-21]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases.
Lenz TL, Deutsch AJ, Han B, ..., de Bakker PI, Raychaudhuri S
Nat. Genet. 47 (9) 1085-1090 [2015-09-00; online 2015-08-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
Klar J, Schuster J, Khan TN, ..., Baig SM, Dahl N
J. Med. Genet. 52 (9) 599-606 [2015-09-00; online 2015-07-05]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptomics of colour patterning and coloration shifts in crows.
Poelstra JW, Vijay N, Hoeppner MP, Wolf JB
Mol. Ecol. 24 (18) 4617-4628 [2015-09-00; online 2015-08-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Polymorphisms in the FK506 binding protein 5 gene are associated with attention deficit hyperactivity disorder and diurnal cortisol levels.
Isaksson J, Allen M, Nilsson KW, Lindblad F
Acta Paediatr. 104 (9) 910-915 [2015-09-00; online 2015-06-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.
Jiao H, Arner P, Gerdhem P, ..., Kere J, Dahlman I
Eur. J. Hum. Genet. 23 (9) 1216-1222 [2015-09-00; online 2014-11-20]
Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Analysis of the genetic architecture of susceptibility to cervical cancer indicates that common SNPs explain a large proportion of the heritability.
Chen D, Cui T, Ek WE, ..., Wang H, Gyllensten U
Carcinogenesis 36 (9) 992-998 [2015-09-00; online 2015-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Altered serotonin (5-HT) 1D and 2A receptor expression may contribute to defective insulin and glucagon secretion in human type 2 diabetes.
Bennet H, Balhuizen A, Medina A, ..., Wierup N, Fex M
Peptides 71 (-) 113-120 [2015-09-00; online 2015-07-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Acute Sleep Loss Induces Tissue-Specific Epigenetic and Transcriptional Alterations to Circadian Clock Genes in Men.
Cedernaes J, Osler ME, Voisin S, ..., Schiöth HB, Benedict C
J. Clin. Endocrinol. Metab. 100 (9) E1255-E1261 [2015-09-00; online 2015-07-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Microfluidic screening and whole-genome sequencing identifies mutations associated with improved protein secretion by yeast.
Huang M, Bai Y, Sjostrom SL, ..., Andersson-Svahn H, Nielsen J
Proc. Natl. Acad. Sci. U.S.A. 112 (34) E4689-E4696 [2015-08-25; online 2015-08-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Transcriptomic changes in the plant pathogenic fungus Rhizoctonia solani AG-3 in response to the antagonistic bacteria Serratia proteamaculans and Serratia plymuthica.
Gkarmiri K, Finlay RD, Alström S, ..., Cubeta MA, Högberg N
BMC Genomics 16 (-) 630 [2015-08-22; online 2015-08-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Complementing tissue characterization by integrating transcriptome profiling from the Human Protein Atlas and from the FANTOM5 consortium.
Yu NY, Hallström BM, Fagerberg L, ..., Uhlén M, Daub CO
Nucleic Acids Res. 43 (14) 6787-6798 [2015-08-18; online 2015-06-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling [Collaborative]
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Genome-wide association study of toxic metals and trace elements reveals novel associations.
Ng E, Lind PM, Lindgren C, ..., Morris A, Lind L
Hum. Mol. Genet. 24 (16) 4739-4745 [2015-08-15; online 2015-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry.
Nettleton JA, Follis JL, Ngwa JS, ..., Loos RJ, Franks PW
Hum. Mol. Genet. 24 (16) 4728-4738 [2015-08-15; online 2015-05-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease.
Persson J, Strawbridge RJ, McLeod O, ..., Hamsten A, IMPROVE Study Group
J Am Heart Assoc 4 (8) e001853 [2015-08-14; online 2015-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.
Sandgren J, Holm S, Marino AM, ..., Nistér M, Díaz de Ståhl T
Biomed Res Int 2015 (-) 862039 [2015-08-12; online 2015-08-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Adaptive mutations in sugar metabolism restore growth on glucose in a pyruvate decarboxylase negative yeast strain.
Zhang Y, Liu G, Engqvist MK, ..., Siewers V, Nielsen J
Microb. Cell Fact. 14 (-) 116 [2015-08-08; online 2015-08-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Roux-en-Y Gastric Bypass and Vertical Banded Gastroplasty Induce Long-Term Changes on the Human Gut Microbiome Contributing to Fat Mass Regulation.
Tremaroli V, Karlsson F, Werling M, ..., Nielsen J, Bäckhed F
Cell Metab. 22 (2) 228-238 [2015-08-04; online 2015-08-06]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genome-wide mapping of promoter-anchored interactions with close to single-enhancer resolution.
Sahlén P, Abdullayev I, Ramsköld D, ..., Lundeberg J, Sandberg R
Genome Biol. 16 (-) 156 [2015-08-03; online 2015-08-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Analysis of the Human Prostate-Specific Proteome Defined by Transcriptomics and Antibody-Based Profiling Identifies TMEM79 and ACOXL as Two Putative, Diagnostic Markers in Prostate Cancer.
O'Hurley G, Busch C, Fagerberg L, ..., Uhlén M, Pontén F
PLoS ONE 10 (8) e0133449 [2015-08-03; online 2015-08-03]
Affinity Proteomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics Tissue Profiling [Technology development]
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Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.
Varenhorst C, Eriksson N, Johansson Å, ..., Wallentin L, PLATO Investigators
Eur. Heart J. 36 (29) 1901-1912 [2015-08-01; online 2015-05-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F, Nilsson D, Asad S, ..., Nordenskjöld M, Bradley M
J. Allergy Clin. Immunol. 136 (2) 507-9.e19 [2015-08-00; online 2015-03-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Prevalence of polymorphisms with significant resistance to NS5A inhibitors in treatment-naive patients with hepatitis C virus genotypes 1a and 3a in Sweden.
Lindström I, Kjellin M, Palanisamy N, ..., Lannergard A, Lennerstrand J
Infect Dis (Lond) 47 (8) 555-562 [2015-08-00; online 2015-04-09]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Manganese lipoxygenase of F. oxysporum and the structural basis for biosynthesis of distinct 11-hydroperoxy stereoisomers.
Wennman A, Magnuson A, Hamberg M, Oliw EH
J. Lipid Res. 56 (8) 1606-1615 [2015-08-00; online 2015-06-27]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes.
Rask-Andersen M, Almén MS, Lind L, Schiöth HB
Mol. Genet. Genomics 290 (4) 1485-1491 [2015-08-00; online 2015-02-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A prezygotic transmission distorter acting equally in female and male zebra finches Taeniopygia guttata.
Knief U, Schielzeth H, Ellegren H, Kempenaers B, Forstmeier W
Mol. Ecol. 24 (15) 3846-3859 [2015-08-00; online 2015-06-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.
Crona J, Ljungström V, Welin S, ..., Hellman P, Björklund P
PLoS ONE 10 (7) e0133210 [2015-07-31; online 2015-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Directional dominance on stature and cognition in diverse human populations.
Joshi PK, Esko T, Mattsson H, ..., Polašek O, Wilson JF
Nature 523 (7561) 459-462 [2015-07-23; online 2015-07-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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lobChIP: from cells to sequencing ready ChIP libraries in a single day.
Wallerman O, Nord H, Bysani M, Borghini L, Wadelius C
Epigenetics Chromatin 8 (-) 25 [2015-07-21; online 2015-07-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
Kristiansen W, Karlsson R, Rounge TB, ..., Grotmol T, Wiklund F
Hum. Mol. Genet. 24 (14) 4138-4146 [2015-07-15; online 2015-04-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Differential Expression Analysis by RNA-Seq Reveals Perturbations in the Platelet mRNA Transcriptome Triggered by Pathogen Reduction Systems.
Osman A, Hitzler WE, Ameur A, Provost P
PLoS ONE 10 (7) e0133070 [2015-07-14; online 2015-07-14]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Metagenomic insights into strategies of aerobic and anaerobic carbon and nitrogen transformation in boreal lakes.
Peura S, Sinclair L, Bertilsson S, Eiler A
Sci Rep 5 (-) 12102 [2015-07-10; online 2015-07-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, ..., Cazzola M, Hellström Lindberg E
Blood 126 (2) 233-241 [2015-07-09; online 2015-05-10]
Clinical Genomics Clinical Genomics Uppsala NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Identification of large variation in pfcrt, pfmdr-1 and pfubp-1 markers in Plasmodium falciparum isolates from Ethiopia and Tanzania.
Golassa L, Kamugisha E, Ishengoma DS, ..., Choy A, Swedberg G
Malar. J. 14 (-) 264 [2015-07-08; online 2015-07-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Scaffolding of a bacterial genome using MinION nanopore sequencing.
Karlsson E, Lärkeryd A, Sjödin A, Forsman M, Stenberg P
Sci Rep 5 (-) 11996 [2015-07-07; online 2015-07-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Genome Characterization, Prevalence and Distribution of a Macula-Like Virus from Apis mellifera and Varroa destructor.
de Miranda JR, Cornman RS, Evans JD, ..., Neumann P, Gauthier L
Viruses 7 (7) 3586-3602 [2015-07-06; online 2015-07-06]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes.
Fall T, Xie W, Poon W, ..., Frayling TM, Ingelsson E
Diabetes 64 (7) 2676-2684 [2015-07-00; online 2015-05-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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UV irradiation responses in Giardia intestinalis.
Einarsson E, Svärd SG, Troell K
Exp. Parasitol. 154 (-) 25-32 [2015-07-00; online 2015-04-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Toward Rare Blood Cell Preservation for RNA Sequencing.
Vickovic S, Ahmadian A, Lewensohn R, Lundeberg J
J Mol Diagn 17 (4) 352-359 [2015-07-00; online 2015-05-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.
Matsson H, Huss M, Persson H, ..., Peyrard-Janvid M, Kere J
J. Hum. Genet. 60 (7) 399-401 [2015-07-00; online 2015-04-17]
Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.
Genetics of Personality Consortium , de Moor MH, van den Berg SM, ..., Martin NG, Boomsma DI
JAMA Psychiatry 72 (7) 642-650 [2015-07-00; online 2015-05-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Identifying glycoside hydrolase family 18 genes in the mycoparasitic fungal species Clonostachys rosea.
Tzelepis G, Dubey M, Jensen DF, Karlsson M
Microbiology (Reading, Engl.) 161 (7) 1407-1419 [2015-07-00; online 2015-04-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.
Ng E, Salihovic S, Lind PM, ..., Morris AP, Lind L
Environ. Res. 140 (-) 95-101 [2015-07-00; online 2015-04-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Function of Isolated Pancreatic Islets From Patients at Onset of Type 1 Diabetes: Insulin Secretion Can Be Restored After Some Days in a Nondiabetogenic Environment In Vitro: Results From the DiViD Study.
Krogvold L, Skog O, Sundström G, ..., Korsgren O, Dahl-Jørgensen K
Diabetes 64 (7) 2506-2512 [2015-07-00; online 2015-02-14]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.
Horikoshi M, Mӓgi R, van de Bunt M, ..., Morris AP, ENGAGE Consortium
PLoS Genet. 11 (7) e1005230 [2015-07-00; online 2015-07-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals.
Score J, Chase A, Forsberg LA, ..., Gale RE, Cross NC
Leukemia 29 (7) 1600-1602 [2015-07-00; online 2015-01-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The Plasmodiophora brassicae genome reveals insights in its life cycle and ancestry of chitin synthases.
Schwelm A, Fogelqvist J, Knaust A, ..., Ludwig-Müller J, Dixelius C
Sci Rep 5 (-) 11153 [2015-06-18; online 2015-06-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Characterization of Three Mycobacterium spp. with Potential Use in Bioremediation by Genome Sequencing and Comparative Genomics.
Das S, Pettersson BM, Behra PR, ..., Bhattacharya A, Kirsebom LA
Genome Biol Evol 7 (7) 1871-1886 [2015-06-16; online 2015-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases.
Berggren O, Alexsson A, Morris DL, ..., Rönnblom L, Eloranta ML
Hum. Mol. Genet. 24 (12) 3571-3581 [2015-06-15; online 2015-03-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Defining the Human Brain Proteome Using Transcriptomics and Antibody-Based Profiling with a Focus on the Cerebral Cortex.
Sjöstedt E, Fagerberg L, Hallström BM, ..., Uhlén M, Mulder J
PLoS ONE 10 (6) e0130028 [2015-06-15; online 2015-06-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling [Collaborative]
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Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
Nead KT, Li A, Wehner MR, ..., Anand SS, Meyre D
Hum. Mol. Genet. 24 (12) 3582-3594 [2015-06-15; online 2015-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Phasing of single DNA molecules by massively parallel barcoding.
Borgström E, Redin D, Lundin S, ..., Andersson AF, Ahmadian A
Nat Commun 6 (-) 7173 [2015-06-09; online 2015-06-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Evolutionary analysis of the female-specific avian W chromosome.
Smeds L, Warmuth V, Bolivar P, ..., Török J, Ellegren H
Nat Commun 6 (-) 7330 [2015-06-04; online 2015-06-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia.
Mansouri L, Sutton LA, Ljungström V, ..., Nilsson M, Rosenquist R
J. Exp. Med. 212 (6) 833-843 [2015-06-01; online 2015-05-18]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Ancient wolf genome reveals an early divergence of domestic dog ancestors and admixture into high-latitude breeds.
Skoglund P, Ersmark E, Palkopoulou E, Dalén L
Curr. Biol. 25 (11) 1515-1519 [2015-06-01; online 2015-05-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed
Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer.
Marikkannu R, Aravidis C, Rantala J, ..., Nilsson D, Lindblom A
Anticancer Res. 35 (6) 3155-3165 [2015-06-00; online 2015-05-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The impact of low-frequency and rare variants on lipid levels.
Surakka I, Horikoshi M, Mägi R, ..., Ripatti S, ENGAGE Consortium
Nat. Genet. 47 (6) 589-597 [2015-06-00; online 2015-05-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Single locus sex determination and female heterogamety in the basket willow (Salix viminalis L.).
Pucholt P, Rönnberg-Wästljung AC, Berlin S
Heredity (Edinb) 114 (6) 575-583 [2015-06-00; online 2015-02-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Non-reciprocal Interspecies Hybridization Barriers in the Capsella Genus Are Established in the Endosperm.
Rebernig CA, Lafon-Placette C, Hatorangan MR, Slotte T, Köhler C
PLoS Genet. 11 (6) e1005295 [2015-06-00; online 2015-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes: Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO).
Johansson Å, Eriksson N, Becker RC, ..., Siegbahn A, PLATO Investigators
Circ Cardiovasc Genet 8 (3) 498-506 [2015-06-00; online 2015-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
Wilbe M, Kozyrev SV, Farias FH, ..., Hansson-Hamlin H, Lindblad-Toh K
PLoS Genet. 11 (6) e1005248 [2015-06-00; online 2015-06-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Microbial metagenomics in the Baltic Sea: Recent advancements and prospects for environmental monitoring.
Ininbergs K, Bergman B, Larsson J, Ekman M
Ambio 44 Suppl 3 (-) 439-450 [2015-06-00; online 2015-05-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Human adaptation to arsenic-rich environments.
Schlebusch CM, Gattepaille LM, Engström K, ..., Jakobsson M, Broberg K
Mol. Biol. Evol. 32 (6) 1544-1555 [2015-06-00; online 2015-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia.
Karimi M, Nilsson C, Dimitriou M, ..., Kere J, Hellström-Lindberg E
Haematologica 100 (6) e223-e225 [2015-06-00; online 2015-03-15]
Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
Tesi B, Sieni E, Neves C, ..., Azzari C, Bryceson YT
Journal of Allergy and Clinical Immunology 135 (6) 1638-1641.e5 [2015-06-00; online 2015-06-00]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Exome sequencing of contralateral breast cancer identifies metastatic disease.
Klevebring D, Lindberg J, Rockberg J, ..., Sandberg M, Czene K
Breast Cancer Res. Treat. 151 (2) 319-324 [2015-06-00; online 2015-04-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Exome Sequencing and CNV Analysis on Chromosome 18 in Small Intestinal Neuroendocrine Tumors: Ruling Out a Suspect?
Delgado Verdugo A, Crona J, Maharjan R, ..., Westin G, Björklund P
Horm. Metab. Res. 47 (6) 452-455 [2015-06-00; online 2014-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Consequences of increased terrestrial dissolved organic matter and temperature on bacterioplankton community composition during a Baltic Sea mesocosm experiment.
Lindh MV, Lefébure R, Degerman R, ..., Andersson A, Pinhassi J
Ambio 44 Suppl 3 (-) 402-412 [2015-06-00; online 2015-05-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth.
Palkopoulou E, Mallick S, Skoglund P, ..., Reich D, Dalén L
Curr. Biol. 25 (10) 1395-1400 [2015-05-18; online 2015-04-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
CGGBP1 mitigates cytosine methylation at repetitive DNA sequences.
Agarwal P, Collier P, Fritz MH, ..., Westermark B, Singh U
BMC Genomics 16 (-) 390 [2015-05-16; online 2015-05-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Phylogeographical pattern of Francisella tularensis in a nationwide outbreak of tularaemia in Norway, 2011.
Afset JE, Larssen KW, Bergh K, ..., Johansson A, Forsman M
Euro Surveill. 20 (19) 9-14 [2015-05-14; online 2015-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Complex archaea that bridge the gap between prokaryotes and eukaryotes.
Spang A, Saw JH, Jørgensen SL, ..., Guy L, Ettema TJ
Nature 521 (7551) 173-179 [2015-05-14; online 2015-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, ..., Lappalainen T, MacArthur DG
Science 348 (6235) 666-669 [2015-05-08; online 2015-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Complement inhibitor CD55 governs the integrity of membrane rafts in pancreatic beta cells, but plays no role in insulin secretion.
Nagaraj V, King B, Storm P, ..., Blom AM, Renström E
Biochem. Biophys. Res. Commun. 460 (3) 518-524 [2015-05-08; online 2015-03-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association mapping in a wild avian population identifies a link between genetic and phenotypic variation in a life-history trait.
Husby A, Kawakami T, Rönnegård L, ..., Ellegren H, Qvarnström A
Proc. Biol. Sci. 282 (1806) 20150156 [2015-05-07; online 2015-04-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Intestinal dysbiosis in children with short bowel syndrome is associated with impaired outcome.
Engstrand Lilja H, Wefer H, Nyström N, Finkel Y, Engstrand L
Microbiome 3 (-) 18 [2015-05-04; online 2015-05-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Tracking the origin of metastatic prostate cancer.
Lindberg J, Kristiansen A, Wiklund P, Grönberg H, Egevad L
Eur. Urol. 67 (5) 819-822 [2015-05-00; online 2014-09-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Plant-mediated gene silencing restricts growth of the potato late blight pathogen Phytophthora infestans.
Jahan SN, Åsman AK, Corcoran P, ..., Vetukuri RR, Dixelius C
J. Exp. Bot. 66 (9) 2785-2794 [2015-05-00; online 2015-03-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Mixed ancestry and admixture in Kauai's feral chickens: invasion of domestic genes into ancient Red Junglefowl reservoirs.
Gering E, Johnsson M, Willis P, Getty T, Wright D
Mol. Ecol. 24 (9) 2112-2124 [2015-05-00; online 2015-02-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
Coffee and Caffeine Genetics Consortium , Cornelis MC, Byrne EM, ..., van Dam RM, Chasman DI
Mol. Psychiatry 20 (5) 647-656 [2015-05-00; online 2014-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic regulation of bone metabolism in the chicken: similarities and differences to Mammalian systems.
Johnsson M, Jonsson KB, Andersson L, Jensen P, Wright D
PLoS Genet. 11 (5) e1005250 [2015-05-00; online 2015-05-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents.
Voisin S, Almén MS, Moschonis G, ..., Manios Y, Schiöth HB
Eur. J. Hum. Genet. 23 (5) 654-662 [2015-05-00; online 2014-07-31]
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Olsson L, Albitar F, Castor A, ..., Paulsson K, Johansson B
Genes Chromosomes Cancer 54 (5) 315-325 [2015-05-00; online 2015-03-03]
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Clin. Genet. 87 (5) 496-498 [2015-05-00; online 2014-07-26]
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Diabetes 64 (5) 1841-1852 [2015-05-00; online 2015-02-26]
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Karrman K, Castor A, Behrendtz M, ..., Paulsson K, Johansson B
J Hematol Oncol 8 (-) 42 [2015-04-24; online 2015-04-24]
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N. Engl. J. Med. 372 (17) 1608-1618 [2015-04-23; online 2015-04-09]
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Front Microbiol 6 (-) 223 [2015-04-01; online 2015-04-01]
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Int J Epidemiol 44 (2) 638-650 [2015-04-00; online 2015-06-06]
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Obes Rev 16 (4) 327-340 [2015-04-00; online 2015-03-05]
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GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.
den Hoed M, Strawbridge RJ, Almgren P, ..., Melander O, Lind L
Atherosclerosis 239 (2) 304-310 [2015-04-00; online 2015-02-16]
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Arthritis & rheumatology (Hoboken, N.J.) 67 (4) 1000-1011 [2015-04-00; online 2014-12-17]
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Fluctuating expression of microRNAs in adenovirus infected cells.
Zhao H, Chen M, Tellgren-Roth C, Pettersson U
Virology 478 (-) 99-111 [2015-04-00; online 2015-03-07]
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Duffy antigen receptor genetic variant and the association with Interleukin 8 levels.
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Int J Epidemiol 44 (2) 578-586 [2015-04-00; online 2015-05-27]
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Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity.
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PLoS ONE 10 (3) e0121964 [2015-03-30; online 2015-03-30]
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PLoS ONE 10 (3) e0119752 [2015-03-26; online 2015-03-26]
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PLoS ONE 10 (3) e0120548 [2015-03-23; online 2015-03-23]
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Complete Genome Sequence of Francisella guangzhouensis Strain 08HL01032T, Isolated from Air-Conditioning Systems in China.
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Genome Announc 3 (2) - [2015-03-19; online 2015-03-19]
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PLoS ONE 10 (3) e0119980 [2015-03-17; online 2015-03-17]
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PLoS Genet. 11 (3) e1005101 [2015-03-00; online 2015-03-23]
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Neupane S, Finlay RD, Alström S, Elfstrand M, Högberg N
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NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Lundin S, Jemt A, Terje-Hegge F, ..., Lexow P, Lundeberg J
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NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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ACS Nano 9 (1) 146-163 [2015-01-27; online 2014-12-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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J Am Heart Assoc 4 (1) e001467 [2015-01-14; online 2015-01-14]
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The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes.
Frankowiack M, Kovanen RM, Repasky GA, ..., Pedersen NL, Hammarström L
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NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genome Biol Evol 7 (2) 465-480 [2015-01-08; online 2015-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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van Steenbergen HW, Rodríguez-Rodríguez L, Berglin E, ..., Rantapää-Dahlqvist S, van der Helm-van Mil AH
Arthritis Res. Ther. 17 (-) 1 [2015-01-08; online 2015-01-08]
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Mutagenesis. Smoking is associated with mosaic loss of chromosome Y.
Dumanski JP, Rasi C, Lönn M, ..., Ingelsson E, Forsberg LA
Science 347 (6217) 81-83 [2015-01-02; online 2014-12-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.
Lindqvist CM, Nordlund J, Ekman D, ..., Syvänen AC, Berglund EC
Hum. Mutat. 36 (1) 118-128 [2015-01-00; online 2014-10-31]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Gremel G, Wanders A, Cedernaes J, ..., Uhlén M, Pontén F
J. Gastroenterol. 50 (1) 46-57 [2015-01-00; online 2014-05-03]
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Phenotypic plasticity and differentiation in an invasive freshwater microalga
Sassenhagen I, Wilken S, Godhe A, Rengefors K
Harmful Algae 41 (-) 38-45 [2015-01-00; online 2015-01-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis.
Danielsen SA, Lind GE, Kolberg M, ..., Picci P, Lothe RA
Neuro-oncology 17 (1) 63-69 [2015-01-00; online 2014-07-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Lessons and implications from association studies and post-GWAS analyses of cervical cancer.
Chen D, Gyllensten U
Trends Genet. 31 (1) 41-54 [2015-01-00; online 2014-12-04]
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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Mahajan A, Sim X, Ng HJ, ..., Gloyn AL, T2D-GENES consortium and GoT2D consortium
PLoS Genet. 11 (1) e1004876 [2015-01-00; online 2015-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Expression of human leukocyte antigen class I in endocrine and exocrine pancreatic tissue at onset of type 1 diabetes.
Skog O, Korsgren S, Wiberg A, ..., Korsgren O, Dahl-Jørgensen K
Am. J. Pathol. 185 (1) 129-138 [2015-01-00; online 2014-12-20]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Anti-Obesity Effects and Metabolism in DIO Mice of a Novel Hybrid Lipid with Lauric and Lipoic Acid
Madawala SR
J Obes Weight Loss Ther 05 (02) - [2015-00-00; online 2015-00-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Year 2014

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An outbreak of respiratory tularemia caused by diverse clones of Francisella tularensis.
Johansson A, Lärkeryd A, Widerström M, ..., Forsman M, Larsson P
Clin. Infect. Dis. 59 (11) 1546-1553 [2014-12-01; online 2014-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The lung-specific proteome defined by integration of transcriptomics and antibody-based profiling.
Lindskog C, Fagerberg L, Hallström B, ..., Pontén F, Micke P
FASEB J. 28 (12) 5184-5196 [2014-12-00; online 2014-08-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling [Collaborative]
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Studies of plant colonisation by closely related Bacillus amyloliquefaciens biocontrol agents using strain specific quantitative PCR assays.
Johansson AH, Bejai S, Niazi A, ..., Bongcam-Rudloff E, Meijer J
Antonie Van Leeuwenhoek 106 (6) 1247-1257 [2014-12-00; online 2014-10-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Serotonin receptor gene (5HT-2A) polymorphism is associated with provoked vestibulodynia and comorbid symptoms of pain.
Heddini U, Bohm-Starke N, Grönbladh A, ..., Nilsson KW, Johannesson U
J Sex Med 11 (12) 3064-3071 [2014-12-00; online 2014-09-02]
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Peritoneal carcinomatosis from small intestinal neuroendocrine tumors: Clinical course and genetic profiling.
Norlén O, Edfeldt K, Akerstrom G, ..., Bjorklund P, Stalberg P
Surgery 156 (6) 1512-21; discussion 1521-2 [2014-12-00; online 2014-11-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease.
Ganna A, Salihovic S, Sundström J, ..., Fall T, Ingelsson E
PLoS Genet. 10 (12) e1004801 [2014-12-00; online 2014-12-11]
Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
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Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.
Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES
Am. J. Med. Genet. A 164A (12) 3083-3087 [2014-12-00; online 2014-09-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Insights into conifer giga-genomes.
De La Torre AR, Birol I, Bousquet J, ..., Zerbe P, Bohlmann J
Plant Physiol. 166 (4) 1724-1732 [2014-12-00; online 2014-10-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Gene expression associated with intersterility in Heterobasidion
Van der Nest MA, Olson Å, Karlsson M, ..., Wingfield BD, Stenlid J
Fungal Genetics and Biology 73 (-) 104-119 [2014-12-00; online 2014-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
Madrigal I, Alvarez-Mora MI, Karlberg O, ..., Syvänen AC, Milà M
J. Clin. Pathol. 67 (12) 1099-1103 [2014-12-00; online 2014-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Donor or recipient origin of posttransplant lymphoproliferative disorders following solid organ transplantation.
Kinch A, Cavelier L, Bengtsson M, ..., Sundström C, Pauksens K
Am. J. Transplant. 14 (12) 2838-2845 [2014-12-00; online 2014-10-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.
Scott RA, Fall T, Pasko D, ..., Langenberg C, Wareham NJ
Diabetes 63 (12) 4378-4387 [2014-12-00; online 2014-06-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Applying polygenic risk scores to postpartum depression.
Byrne EM, Carrillo-Roa T, Penninx BW, ..., Meltzer-Brody S, Wray NR
Arch Womens Ment Health 17 (6) 519-528 [2014-12-00; online 2014-07-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete Genome Sequence of Francisella endociliophora Strain FSC1006, Isolated from a Laboratory Culture of the Marine Ciliate Euplotes raikovi.
Sjödin A, Ohrman C, Bäckman S, ..., Stenberg P, Thelaus J
Genome Announc 2 (6) - [2014-11-26; online 2014-11-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Metagenomic approaches to disclose disease-associated pathogens: detection of viral pathogens in honeybees.
Granberg F, Karlsson OE, Belák S
Methods Mol. Biol. 1247 (-) 491-511 [2014-11-17; online 2014-11-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Pathway analysis of cervical cancer genome-wide association study highlights the MHC region and pathways involved in response to infection.
Chen D, Enroth S, Ivansson E, Gyllensten U
Hum. Mol. Genet. 23 (22) 6047-6060 [2014-11-15; online 2014-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genomic identification and characterization of the pseudoautosomal region in highly differentiated avian sex chromosomes
Smeds L, Kawakami T, Burri R, ..., Uebbing S, Ellegren H
Nat Commun 5 (-) 5448 [2014-11-07; online 2014-11-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Defining the human adipose tissue proteome to reveal metabolic alterations in obesity.
Mardinoglu A, Kampf C, Asplund A, ..., Uhlen M, Nielsen J
J. Proteome Res. 13 (11) 5106-5119 [2014-11-07; online 2014-09-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling
PubMed DOI Crossref
Replicability and robustness of genome-wide-association studies for behavioral traits.
Rietveld CA, Conley D, Eriksson N, ..., Koellinger PD, Social Science Genetics Association Consortium
Psychol Sci 25 (11) 1975-1986 [2014-11-00; online 2014-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Parallel barcoding of antibodies for DNA-assisted proteomics.
Dezfouli M, Vickovic S, Iglesias MJ, Schwenk JM, Ahmadian A
Proteomics 14 (21-22) 2432-2436 [2014-11-00; online 2014-09-30]
Affinity Proteomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells.
Kruczyk M, Przanowski P, Dabrowski M, ..., Kaminska B, Komorowski J
Biochim. Biophys. Acta 1839 (11) 1341-1350 [2014-11-00; online 2014-08-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Human isolates of Listeria monocytogenes in Sweden during half a century (1958-2010).
Lopez-Valladares G, Tham W, Parihar VS, ..., Henriques-Normark B, Danielsson-Tham ML
Epidemiol. Infect. 142 (11) 2251-2260 [2014-11-00; online 2014-02-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Fat mass and obesity-associated gene (FTO) is linked to higher plasma levels of the hunger hormone ghrelin and lower serum levels of the satiety hormone leptin in older adults.
Benedict C, Axelsson T, Söderberg S, ..., Lind L, Schiöth HB
Diabetes 63 (11) 3955-3959 [2014-11-00; online 2014-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Evolution reveals a glutathione-dependent mechanism of 3-hydroxypropionic acid tolerance.
Kildegaard KR, Hallström BM, Blicher TH, ..., Nielsen J, Borodina I
Metab. Eng. 26 (-) 57-66 [2014-11-00; online 2014-09-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Estimation of linkage disequilibrium and interspecific gene flow in Ficedula flycatchers by a newly developed 50k single-nucleotide polymorphism array.
Kawakami T, Backström N, Burri R, ..., Qvarnström A, Ellegren H
Mol Ecol Resour 14 (6) 1248-1260 [2014-11-00; online 2014-05-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, ..., Hirschhorn JN, Frayling TM
Nat. Genet. 46 (11) 1173-1186 [2014-11-00; online 2014-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Defining the human gallbladder proteome by transcriptomics and affinity proteomics.
Kampf C, Mardinoglu A, Fagerberg L, ..., Pontén F, Uhlen M
Proteomics 14 (21-22) 2498-2507 [2014-11-00; online 2014-09-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling
PubMed DOI Crossref
Bcl-2 maintains the mitochondrial membrane potential, but fails to affect production of reactive oxygen species and endoplasmic reticulum stress, in sodium palmitate-induced β-cell death.
Wang X, Welsh N
Ups. J. Med. Sci. 119 (4) 306-315 [2014-11-00; online 2014-10-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Klar J, Hisatsune C, Baig SM, ..., Mikoshiba K, Dahl N
J. Clin. Invest. 124 (11) 4773-4780 [2014-11-00; online 2014-10-20]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Populus tremula (European aspen) shows no evidence of sexual dimorphism.
Robinson KM, Delhomme N, Mähler N, ..., Jansson S, Street NR
BMC Plant Biol. 14 (-) 276 [2014-10-16; online 2014-10-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Adoue V, Schiavi A, Light N, ..., Syvänen A, Pastinen T
Mol. Syst. Biol. 10 (-) 754 [2014-10-16; online 2014-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Human genetic evidence for involvement of CD137 in atherosclerosis.
Söderström LÅ, Gertow K, Folkersen L, ..., Hansson GK, Olofsson PS
Mol. Med. 20 (-) 456-465 [2014-10-14; online 2014-07-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Gene and protein expression and cellular localisation of cytochrome P450 enzymes of the 1A, 2A, 2C, 2D and 2E subfamilies in equine intestine and liver.
Tydén E, Tjälve H, Larsson P
Acta Vet. Scand. 56 (-) 69 [2014-10-08; online 2014-10-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects.
Ameur A, Bunikis I, Enroth S, Gyllensten U
Database (Oxford) 2014 (-) - [2014-10-03; online 2014-10-03]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Biofuels. Altered sterol composition renders yeast thermotolerant.
Caspeta L, Chen Y, Ghiaci P, ..., Petranovic D, Nielsen J
Science 346 (6205) 75-78 [2014-10-03; online 2014-10-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry JR, Day F, Elks CE, ..., Murabito JM, Ong KK
Nature 514 (7520) 92-97 [2014-10-02; online 2014-07-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Uneven distribution of human papillomavirus 16 in cervical carcinoma in situ and squamous cell carcinoma in older females: A retrospective database study.
Andersson S, Mints M, Gyllensten U, ..., Lambe M, Wilander E
Oncol Lett 8 (4) 1528-1532 [2014-10-00; online 2014-09-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The DMRT3 'Gait keeper' mutation affects performance of Nordic and Standardbred trotters.
Jäderkvist K, Andersson LS, Johansson AM, ..., Andersson L, Lindgren G
J. Anim. Sci. 92 (10) 4279-4286 [2014-10-00; online 2014-08-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Signals that regulate the oncogenic fate of neural stem cells and progenitors.
Swartling FJ, Bolin S, Phillips JJ, Persson AI
Exp. Neurol. 260 (-) 56-68 [2014-10-00; online 2013-02-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
Khan TN, Klar J, Tariq M, ..., Baig SM, Dahl N
Eur. J. Hum. Genet. 22 (10) 1180-1184 [2014-10-00; online 2014-01-30]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Epoxy alcohol synthase of the rice blast fungus represents a novel subfamily of dioxygenase-cytochrome P450 fusion enzymes.
Hoffmann I, Jernerén F, Oliw EH
J. Lipid Res. 55 (10) 2113-2123 [2014-10-00; online 2014-08-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Analyses of historical and current populations of black grouse in Central Europe reveal strong effects of genetic drift and loss of genetic diversity
Segelbacher G, Strand TM, Quintela M, ..., Koelewijn HP, Höglund J
Conserv Genet 15 (5) 1183-1195 [2014-10-00; online 2014-04-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A worldwide survey of genome sequence variation provides insight into the evolutionary history of the honeybee Apis mellifera.
Wallberg A, Han F, Wellhagen G, ..., Pirk CW, Webster MT
Nat. Genet. 46 (10) 1081-1088 [2014-10-00; online 2014-08-26]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The Chironomus tentans genome sequence and the organization of the Balbiani ring genes.
Kutsenko A, Svensson T, Nystedt B, ..., Visa N, Wieslander L
BMC Genomics 15 (-) 819 [2014-09-27; online 2014-09-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Plasmidome interchange between Clostridium botulinum, Clostridium novyi and Clostridium haemolyticum converts strains of independent lineages into distinctly different pathogens.
Skarin H, Segerman B
PLoS ONE 9 (9) e107777 [2014-09-25; online 2014-09-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Oncoprotein stabilization in brain tumors.
Hede SM, Savov V, Weishaupt H, Sangfelt O, Swartling FJ
Oncogene 33 (39) 4709-4721 [2014-09-25; online 2013-10-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Ghoussaini M, Edwards SL, Michailidou K, ..., Dunning AM, Australian Ovarian Cancer Management Group
Nat Commun 4 (1) 4999 [2014-09-23; online 2014-09-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
Rietveld CA, Esko T, Davies G, ..., Cesarini D, Koellinger PD
Proc. Natl. Acad. Sci. U.S.A. 111 (38) 13790-13794 [2014-09-23; online 2014-09-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The DEK oncoprotein binds to highly and ubiquitously expressed genes with a dual role in their transcriptional regulation.
Sandén C, Järvstråt L, Lennartsson A, ..., Nilsson B, Gullberg U
Mol. Cancer 13 (-) 215 [2014-09-12; online 2014-09-12]
Bioinformatics and Expression Analysis (BEA) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analysis reveals DNA methylation markers that vary with both age and obesity.
Almén MS, Nilsson EK, Jacobsson JA, ..., Fredriksson R, Schiöth HB
Gene 548 (1) 61-67 [2014-09-10; online 2014-07-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R, Schanze D, Kariminejad A, ..., Hoischen A, Zenker M
Am. J. Hum. Genet. 95 (3) 285-293 [2014-09-04; online 2014-08-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Sexual structures and recombination of the wheat rust fungus Puccinia striiformis on Berberis vulgaris.
Rodriguez-Algaba J, Walter S, Sørensen CK, Hovmøller MS, Justesen AF
Fungal Genet. Biol. 70 (-) 77-85 [2014-09-00; online 2014-07-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N
Br. J. Haematol. 166 (6) 949-951 [2014-09-00; online 2014-04-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Productivity and salinity structuring of the microplankton revealed by comparative freshwater metagenomics
Eiler A, Zaremba‐Niedzwiedzka K, Martínez‐García M, ..., Andersson SGE, Bertilsson S
Environ Microbiol 16 (9) 2682-2698 [2014-09-00; online 2013-11-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Picocyanobacteria containing a novel pigment gene cluster dominate the brackish water Baltic Sea.
Larsson J, Celepli N, Ininbergs K, ..., Bergman B, Ekman M
ISME J 8 (9) 1892-1903 [2014-09-00; online 2014-03-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T, Nilsson D, Hofmeister W, ..., Grigelioniene G, Nordgren A
Mol Genet Genomic Med 2 (5) 402-411 [2014-09-00; online 2014-05-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Hypomethylated pollen bypasses the interploidy hybridization barrier in Arabidopsis.
Schatlowski N, Wolff P, Santos-González J, ..., Tamaru H, Köhler C
Plant Cell 26 (9) 3556-3568 [2014-09-00; online 2014-09-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome of the avirulent human-infective trypanosome--Trypanosoma rangeli.
Stoco PH, Wagner G, Talavera-Lopez C, ..., de Vasconcelos AT, Grisard EC
PLoS Negl Trop Dis 8 (9) e3176 [2014-09-00; online 2014-09-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Do the same genes underlie parallel phenotypic divergence in different Littorina saxatilis populations?
Westram AM, Galindo J, Alm Rosenblad M, ..., Panova M, Butlin RK
Mol. Ecol. 23 (18) 4603-4616 [2014-09-00; online 2014-08-13]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Splicing in the human brain.
Zaghlool A, Ameur A, Cavelier L, Feuk L
Int. Rev. Neurobiol. 116 (-) 95-125 [2014-08-31; online 2014-08-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication.
Carneiro M, Rubin CJ, Di Palma F, ..., Lindblad-Toh K, Andersson L
Science 345 (6200) 1074-1079 [2014-08-29; online 2014-08-30]
Bioinformatics Support for Computational Resources NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Deep amplicon sequencing of preselected isolates of Parascaris equorum in β-tubulin codons associated with benzimidazole resistance in other nematodes.
Tydén E, Dahlberg J, Karlberg O, Höglund J
Parasit Vectors 7 (-) 410 [2014-08-29; online 2014-08-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
The Arthonialean challenge: Restructuring Arthoniaceae
Frisch A, Thor G, Ertz D, Grube M
Taxon 63 (4) 727-744 [2014-08-28; online 2014-08-28]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
A multicentre hospital outbreak in Sweden caused by introduction of a vanB2 transposon into a stably maintained pRUM-plasmid in an Enterococcus faecium ST192 clone.
Sivertsen A, Billström H, Melefors Ö, ..., Sundsfjord A, Hegstad K
PLoS ONE 9 (8) e103274 [2014-08-25; online 2014-08-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Small RNA sequence analysis of adenovirus VA RNA-derived miRNAs reveals an unexpected serotype-specific difference in structure and abundance.
Kamel W, Segerman B, Punga T, Akusjärvi G
PLoS ONE 9 (8) e105746 [2014-08-21; online 2014-08-21]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Missing genes, multiple ORFs, and C-to-U type RNA editing in Acrasis kona (Heterolobosea, Excavata) mitochondrial DNA.
Fu CJ, Sheikh S, Miao W, Andersson SG, Baldauf SL
Genome Biol Evol 6 (9) 2240-2257 [2014-08-21; online 2014-08-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Winter bloom of a rare betaproteobacterium in the Arctic Ocean.
Alonso-Sáez L, Zeder M, Harding T, ..., Bertilsson S, Pedrós-Alió C
Front Microbiol 5 (-) 425 [2014-08-20; online 2014-08-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.
Kilarski LL, Achterberg S, Devan WJ, ..., Bevan S, GARNET Collaborative Research Group WTCCC2ASGCtMCatISGC
Neurology 83 (8) 678-685 [2014-08-19; online 2014-07-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
Greger L, Su J, Rung J, ..., Dermitzakis ET, Brazma A
PLoS ONE 9 (8) e104567 [2014-08-18; online 2014-08-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Species and gene divergence in Littorina snails detected by array comparative genomic hybridization.
Panova M, Johansson T, Canbäck B, ..., Tunlid A, André C
BMC Genomics 15 (-) 687 [2014-08-18; online 2014-08-18]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Evaluation of exome sequencing to estimate tumor burden in plasma.
Klevebring D, Neiman M, Sundling S, ..., Grönberg H, Lindberg J
PLoS ONE 9 (8) e104417 [2014-08-18; online 2014-08-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
BESST--efficient scaffolding of large fragmented assemblies.
Sahlin K, Vezzi F, Nystedt B, Lundeberg J, Arvestad L
BMC Bioinformatics 15 (-) 281 [2014-08-15; online 2014-08-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome analysis of Bacillus amyloliquefaciens Subsp. plantarum UCMB5113: a rhizobacterium that improves plant growth and stress management.
Niazi A, Manzoor S, Asari S, ..., Meijer J, Bongcam-Rudloff E
PLoS ONE 9 (8) e104651 [2014-08-13; online 2014-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease.
Sabater-Lleal M, Mälarstig A, Folkersen L, ..., Tobin MD, Hamsten A
PLoS ONE 9 (8) e104082 [2014-08-05; online 2014-08-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Differences in gene expression between mouse and human for dynamically regulated genes in early embryo.
Madissoon E, Töhönen V, Vesterlund L, ..., Hovatta O, Kere J
PLoS ONE 9 (8) e102949 [2014-08-04; online 2014-08-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.
Viktorin A, Frankowiack M, Padyukov L, ..., Hammarström L, Magnusson PK
Hum. Mol. Genet. 23 (15) 4177-4184 [2014-08-01; online 2014-03-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Systematic investigation of contribution of genetic variation in the HLA-DP region to cervical cancer susceptibility.
Chen D, Gyllensten U
Carcinogenesis 35 (8) 1765-1769 [2014-08-00; online 2014-04-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multifactorial analysis of changes in body mass index across the adult life course: a study with 65 years of follow-up.
Dahl AK, Reynolds CA, Fall T, Magnusson PK, Pedersen NL
Int J Obes (Lond) 38 (8) 1133-1141 [2014-08-00; online 2013-11-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Mechanisms of mRNA export.
Björk P, Wieslander L
Semin. Cell Dev. Biol. 32 (-) 47-54 [2014-08-00; online 2014-05-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism.
Bruzelius M, Strawbridge RJ, Trégouët D, ..., Odeberg J, Hamsten A
Thromb. Res. 134 (2) 426-432 [2014-08-00; online 2014-04-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.
Helgadottir H, Höiom V, Jönsson G, ..., Olsson H, Hansson J
J. Med. Genet. 51 (8) 545-552 [2014-08-00; online 2014-06-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample.
Lind L, Penell J, Syvänen AC, ..., van Bavel B, Lind PM
Environ. Res. 133 (-) 135-140 [2014-08-00; online 2014-06-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, Pulit SL, Crotti L, ..., de Bakker PIW, Newton-Cheh C
Nat. Genet. 46 (8) 826-836 [2014-08-00; online 2014-06-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.
Płaszczyca A, Nilsson J, Magnusson L, ..., Nord KH, Mertens F
Int. J. Biochem. Cell Biol. 53 (-) 475-481 [2014-08-00; online 2014-04-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Distinct roles of Candida albicans-specific genes in host-pathogen interactions.
Wilson D, Mayer FL, Miramón P, ..., Jacobsen ID, Hube B
Eukaryotic Cell 13 (8) 977-989 [2014-08-00; online 2014-03-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Differential methylation in CN-AML preferentially targets non-CGI regions and is dictated by DNMT3A mutational status and associated with predominant hypomethylation of HOX genes.
Qu Y, Lennartsson A, Gaidzik VI, ..., Döhner K, Lehmann S
Epigenetics 9 (8) 1108-1119 [2014-08-00; online 2014-05-29]
Bioinformatics and Expression Analysis (BEA) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
DegePrime, a program for degenerate primer design for broad-taxonomic-range PCR in microbial ecology studies.
Hugerth LW, Wefer HA, Lundin S, ..., Engstrand L, Andersson AF
Appl. Environ. Microbiol. 80 (16) 5116-5123 [2014-08-00; online 2014-06-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Cluster of infections caused by methicillin-resistant Staphylococcus pseudintermedius in humans in a tertiary hospital.
Starlander G, Börjesson S, Grönlund-Andersson U, Tellgren-Roth C, Melhus A
J. Clin. Microbiol. 52 (8) 3118-3120 [2014-08-00; online 2014-05-30]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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A high-density linkage map enables a second-generation collared flycatcher genome assembly and reveals the patterns of avian recombination rate variation and chromosomal evolution.
Kawakami T, Smeds L, Backström N, ..., Olason P, Ellegren H
Mol. Ecol. 23 (16) 4035-4058 [2014-08-00; online 2014-05-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Nuclease-assisted suppression of human DNA background in sepsis.
Song Y, Giske CG, Gille-Johnson P, ..., Lundeberg J, Gyarmati P
PLoS ONE 9 (7) e103610 [2014-07-30; online 2014-07-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Polymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis.
Andreou D, Söderman E, Axelsson T, ..., Agartz I, Jönsson EG
Behav Brain Funct 10 (-) 26 [2014-07-29; online 2014-07-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Analysis of stranded information using an automated procedure for strand specific RNA sequencing.
Sigurgeirsson B, Emanuelsson O, Lundeberg J
BMC Genomics 15 (-) 631 [2014-07-28; online 2014-07-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Biological insights from 108 schizophrenia-associated genetic loci.
Schizophrenia Working Group of the Psychiatric Genomics Consortium
Nature 511 (7510) 421-427 [2014-07-24; online 2014-07-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A Picea abies linkage map based on SNP markers identifies QTLs for four aspects of resistance to Heterobasidion parviporum infection.
Lind M, Källman T, Chen J, ..., Lascoux M, Stenlid J
PLoS ONE 9 (7) e101049 [2014-07-18; online 2014-07-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.
Almlöf JC, Lundmark P, Lundmark A, ..., Ouwehand WH, Syvänen AC
PLoS ONE 9 (7) e102612 [2014-07-15; online 2014-07-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The archaeal legacy of eukaryotes: a phylogenomic perspective.
Guy L, Saw JH, Ettema TJ
Cold Spring Harb Perspect Biol 6 (10) a016022 [2014-07-03; online 2014-07-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.
Tang W, Kowgier M, Loth DW, ..., Hall IP, Cassano PA
PLoS ONE 9 (7) e100776 [2014-07-01; online 2014-07-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The human liver-specific proteome defined by transcriptomics and antibody-based profiling.
Kampf C, Mardinoglu A, Fagerberg L, ..., Nielsen J, Uhlen M
FASEB J. 28 (7) 2901-2914 [2014-07-00; online 2014-03-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics Tissue Profiling
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Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study.
Akerblom A, Eriksson N, Wallentin L, ..., James SK, PLATO Investigators
Am. Heart J. 168 (1) 96-102.e2 [2014-07-00; online 2014-04-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
Hoggart CJ, Venturini G, Mangino M, ..., Loos RJ, Kutalik Z
PLoS Genet. 10 (7) e1004508 [2014-07-00; online 2014-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Management intensity at field and landscape levels affects the structure of generalist predator communities.
Rusch A, Birkhofer K, Bommarco R, Smith HG, Ekbom B
Oecologia 175 (3) 971-983 [2014-07-00; online 2014-05-09]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory.
van den Berg SM, de Moor MH, McGue M, ..., Martin NG, Boomsma DI
Behav. Genet. 44 (4) 295-313 [2014-07-00; online 2014-05-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Loth DW, Soler Artigas M, Gharib SA, ..., Tobin MD, London SJ
Nat. Genet. 46 (7) 669-677 [2014-07-00; online 2014-06-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.
Bolton JL, Hayward C, Direk N, ..., Walker BR, CORtisol NETwork (CORNET) Consortium
PLoS Genet. 10 (7) e1004474 [2014-07-00; online 2014-07-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Grigelioniene G, Geiberger S, Horemuzova E, ..., Nordgren A, Mäkitie O
Am. J. Med. Genet. A 164A (7) 1635-1641 [2014-07-00; online 2014-03-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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'Geoarchaeote NAG1' is a deeply rooting lineage of the archaeal order Thermoproteales rather than a new phylum.
Guy L, Spang A, Saw JH, Ettema TJ
ISME J 8 (7) 1353-1357 [2014-07-00; online 2014-02-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
Schuster J, Khan TN, Tariq M, ..., Baig SM, Klar J
BMC Med. Genet. 15 (-) 71 [2014-06-24; online 2014-06-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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The genomic landscape underlying phenotypic integrity in the face of gene flow in crows
Poelstra JW, Vijay N, Bossu CM, ..., Grabherr MG, Wolf JBW
Science 344 (6190) 1410-1414 [2014-06-20; online 2014-06-19]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo.
Woll PS, Kjällquist U, Chowdhury O, ..., Linnarsson S, Jacobsen SE
Cancer Cell 25 (6) 794-808 [2014-06-16; online 2014-05-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Complete genome sequence of a plant associated bacterium Bacillus amyloliquefaciens subsp. plantarum UCMB5033.
Niazi A, Manzoor S, Bejai S, Meijer J, Bongcam-Rudloff E
Stand Genomic Sci 9 (3) 718-725 [2014-06-15; online 2014-02-15]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Patterns of sequencing coverage bias revealed by ultra-deep sequencing of vertebrate mitochondria.
Ekblom R, Smeds L, Ellegren H
BMC Genomics 15 (-) 467 [2014-06-12; online 2014-06-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Mapping-by-sequencing accelerates forward genetics in barley.
Mascher M, Jost M, Kuon JE, ..., Graner A, Stein N
Genome Biol. 15 (6) R78 [2014-06-10; online 2014-06-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Efficient de novo assembly of large and complex genomes by massively parallel sequencing of Fosmid pools.
Alexeyenko A, Nystedt B, Vezzi F, ..., Wu CC, Lundeberg J
BMC Genomics 15 (-) 439 [2014-06-06; online 2014-06-06]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q).
Saft L, Karimi M, Ghaderi M, ..., MacBeth KJ, Hellström-Lindberg E
Haematologica 99 (6) 1041-1049 [2014-06-00; online 2014-04-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
microRNA-34b/c on chromosome 11q23 is aberrantly methylated in chronic lymphocytic leukemia.
Deneberg S, Kanduri M, Ali D, ..., Lennartsson A, Lehmann S
Epigenetics 9 (6) 910-917 [2014-06-00; online 2014-04-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The human testis-specific proteome defined by transcriptomics and antibody-based profiling.
Djureinovic D, Fagerberg L, Hallström B, ..., Uhlén M, Pontén F
Mol. Hum. Reprod. 20 (6) 476-488 [2014-06-00; online 2014-03-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Tissue Profiling
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The age and genomic integrity of neurons after cortical stroke in humans.
Huttner HB, Bergmann O, Salehpour M, ..., Lundeberg J, Frisén J
Nat. Neurosci. 17 (6) 801-803 [2014-06-00; online 2014-04-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence.
Meisgen S, Östberg T, Salomonsson S, ..., Kockum I, Wahren-Herlenius M
J. Intern. Med. 275 (6) 640-651 [2014-06-00; online 2013-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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SpliceVista, a tool for splice variant identification and visualization in shotgun proteomics data.
Zhu Y, Hultin-Rosenberg L, Forshed J, ..., Orre LM, Lehtiö J
Mol. Cell Proteomics 13 (6) 1552-1562 [2014-06-00; online 2014-04-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Simultaneous uptake of lignocellulose-based monosaccharides by Escherichia coli.
Jarmander J, Hallström BM, Larsson G
Biotechnol. Bioeng. 111 (6) 1108-1115 [2014-06-00; online 2014-01-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, ..., Carling T, Lifton RP
Nat. Genet. 46 (6) 613-617 [2014-06-00; online 2014-04-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Recurrent EWSR1-CREB3L1 gene fusions in sclerosing epithelioid fibrosarcoma.
Arbajian E, Puls F, Magnusson L, ..., Kindblom LG, Mertens F
Am. J. Surg. Pathol. 38 (6) 801-808 [2014-06-00; online 2014-01-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Old but not (so) degenerated--slow evolution of largely homomorphic sex chromosomes in ratites.
Yazdi HP, Ellegren H
Mol. Biol. Evol. 31 (6) 1444-1453 [2014-06-00; online 2014-03-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Nucleosome regulatory dynamics in response to TGFβ.
Enroth S, Andersson R, Bysani M, ..., Komorowski J, Wadelius C
Nucleic Acids Res. 42 (11) 6921-6934 [2014-06-00; online 2014-04-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.
Forsberg LA, Rasi C, Malmqvist N, ..., Lind L, Dumanski JP
Nat. Genet. 46 (6) 624-628 [2014-06-00; online 2014-04-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.
Dimas AS, Lagou V, Barker A, ..., Prokopenko I, MAGIC Investigators
Diabetes 63 (6) 2158-2171 [2014-06-00; online 2013-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic factors may play a prominent role in the development of coronary heart disease dependent on important environmental factors.
Song C, Chang Z, Magnusson PK, Ingelsson E, Pedersen NL
J. Intern. Med. 275 (6) 631-639 [2014-06-00; online 2013-12-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic associations to germinal centre formation in primary Sjogren's syndrome.
Reksten TR, Johnsen SJ, Jonsson MV, ..., Jonsson R, Nordmark G
Ann. Rheum. Dis. 73 (6) 1253-1258 [2014-06-00; online 2013-04-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Diversity and abundance of aromatic catabolic genes in lake sediments in response to temperature change.
Osman OA, Gudasz C, Bertilsson S
FEMS Microbiol. Ecol. 88 (3) 468-481 [2014-06-00; online 2014-03-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Identification of candidate risk gene variations by whole-genome sequence analysis of four rat strains commonly used in inflammation research.
Bäckdahl L, Ekman D, Jagodic M, Olsson T, Holmdahl R
BMC Genomics 15 (-) 391 [2014-05-21; online 2014-05-21]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Genetic architecture of main effect QTL for heading date in European winter wheat.
Zanke C, Ling J, Plieske J, ..., Ganal MW, Röder MS
Front Plant Sci 5 (-) 217 [2014-05-20; online 2014-05-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Genomic diversity and admixture differs for Stone-Age Scandinavian foragers and farmers.
Skoglund P, Malmström H, Omrak A, ..., Götherström A, Jakobsson M
Science 344 (6185) 747-750 [2014-05-16; online 2014-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in the CYP2B6 gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study.
Penell J, Lind L, Fall T, ..., Ingelsson E, Lind PM
Environ Health 13 (1) 34 [2014-05-08; online 2014-05-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Smoke-related DNA methylation changes in the etiology of human disease.
Besingi W, Johansson A
Hum. Mol. Genet. 23 (9) 2290-2297 [2014-05-01; online 2013-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
Perry JR, Hsu YH, Chasman DI, ..., Karasik D, Murray A
Hum. Mol. Genet. 23 (9) 2490-2497 [2014-05-01; online 2013-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The role of pleiotropy and linkage in genes affecting a sexual ornament and bone allocation in the chicken.
Johnsson M, Rubin CJ, Höglund A, ..., Jensen P, Wright D
Mol. Ecol. 23 (9) 2275-2286 [2014-05-00; online 2014-03-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The RING-Finger E3 Ubiquitin Ligase COP1 SUPPRESSOR1 Negatively Regulates COP1 Abundance in Maintaining COP1 Homeostasis in Dark-Grown Arabidopsis Seedlings.
Xu D, Lin F, Jiang Y, ..., Holm M, Deng XW
Plant Cell 26 (5) 1981-1991 [2014-05-00; online 2014-05-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The H1-receptor antagonist cetirizine protects partially against cytokine- and hydrogen peroxide-induced β-TC6 cell death in vitro.
Anvari E, Fred RG, Welsh N
Pancreas 43 (4) 624-629 [2014-05-00; online 2014-04-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Somatic cells with a heavy mitochondrial DNA mutational load render induced pluripotent stem cells with distinct differentiation defects.
Wahlestedt M, Ameur A, Moraghebi R, ..., Woods NB, Bryder D
Stem Cells 32 (5) 1173-1182 [2014-05-00; online 2014-01-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Single cell genomics of deep ocean bacteria
Zhao W, Andersson SGE
Trends Microbiol. 22 (5) 233-234 [2014-05-00; online 2014-05-00]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Quality control and conduct of genome-wide association meta-analyses.
Winkler TW, Day FR, Croteau-Chonka DC, ..., Loos RJ, Genetic Investigation of Anthropometric Traits (GIANT) Consortium
Nat Protoc 9 (5) 1192-1212 [2014-05-00; online 2014-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Impact of soil transfer between test fields on fungal diversity and wood durability
Råberg U, Terziev N, Daniel G
International Wood Products Journal 5 (2) 83-91 [2014-05-00; online 2013-12-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.
Hatemi PK, Medland SE, Klemmensen R, ..., Eaves LJ, Martin NG
Behav. Genet. 44 (3) 282-294 [2014-05-00; online 2014-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
Nord KH, Lilljebjörn H, Vezzi F, ..., Hogendoorn PC, Szuhai K
Nat. Genet. 46 (5) 474-477 [2014-05-00; online 2014-03-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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A new look at adenovirus splicing.
Zhao H, Chen M, Pettersson U
Virology 456-457 (-) 329-341 [2014-05-00; online 2014-04-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The complete genome of Blastobotrys (Arxula) adeninivorans LS3 - a yeast of biotechnological interest.
Kunze G, Gaillardin C, Czernicka M, ..., Scholz U, Neuvéglise C
Biotechnol Biofuels 7 (-) 66 [2014-04-24; online 2014-04-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Analysis of the DNA methylome and transcriptome in granulopoiesis reveals timed changes and dynamic enhancer methylation.
Rönnerblad M, Andersson R, Olofsson T, ..., Lennartsson A, FANTOM consortium
Blood 123 (17) e79-e89 [2014-04-24; online 2014-03-29]
Bioinformatics and Expression Analysis (BEA) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Seasonal pattern of lesion development in diseased Fraxinus excelsior infected by Hymenoscyphus pseudoalbidus.
Bengtsson SB, Barklund P, von Brömssen C, Stenlid J
PLoS ONE 9 (4) e76429 [2014-04-23; online 2014-04-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Systematic design of 18S rRNA gene primers for determining eukaryotic diversity in microbial consortia.
Hugerth LW, Muller EE, Hu YO, ..., Wilmes P, Andersson AF
PLoS ONE 9 (4) e95567 [2014-04-22; online 2014-04-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Erysipelothrix rhusiopathiae contamination in the poultry house environment during erysipelas outbreaks in organic laying hen flocks.
Eriksson H, Bagge E, Båverud V, Fellström C, Jansson DS
Avian Pathol. 43 (3) 231-237 [2014-04-22; online 2014-03-26]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Elucidating the interactions between the human gut microbiota and its host through metabolic modeling.
Shoaie S, Nielsen J
Front Genet 5 (-) 86 [2014-04-22; online 2014-04-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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A Drosophila immune response against Ras-induced overgrowth.
Hauling T, Krautz R, Markus R, ..., Kucerova L, Theopold U
Biol Open 3 (4) 250-260 [2014-04-15; online 2014-03-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.
Lundin C, Forestier E, Klarskov Andersen M, ..., Swedish Cytogenetic Leukemia Study Group (SCLSG) , NOPHO Leukemia Cytogenetic Study Group (NLCSG)
J Hematol Oncol 7 (-) 32 [2014-04-11; online 2014-04-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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ZBED6 modulates the transcription of myogenic genes in mouse myoblast cells.
Jiang L, Wallerman O, Younis S, ..., Andersson G, Andersson L
PLoS ONE 9 (4) e94187 [2014-04-08; online 2014-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D, Klar J, Azhar A, ..., Baig SM, Dahl N
PLoS ONE 9 (4) e93607 [2014-04-08; online 2014-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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RNA- and antibody-based profiling of the human proteome with focus on chromosome 19.
Stadler C, Fagerberg L, Sivertsson Å, ..., Lundberg E, Uhlén M
J. Proteome Res. 13 (4) 2019-2027 [2014-04-04; online 2014-03-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics
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Genome-scale metabolic reconstructions of Bifidobacterium adolescentis L2-32 and Faecalibacterium prausnitzii A2-165 and their interaction.
El-Semman IE, Karlsson FH, Shoaie S, ..., Soliman TH, Nielsen J
BMC Syst Biol 8 (-) 41 [2014-04-03; online 2014-04-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity.
Han B, Diogo D, Eyre S, ..., de Bakker PI, Raychaudhuri S
Am. J. Hum. Genet. 94 (4) 522-532 [2014-04-03; online 2014-03-20]
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CDKAL1-related single nucleotide polymorphisms are associated with insulin resistance in a cross-sectional cohort of Greek children.
Rask-Andersen M, Philippot G, Moschonis G, ..., Fredriksson R, Schiöth HB
PLoS ONE 9 (4) e93193 [2014-04-02; online 2014-04-02]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Temporal profiling of cytokine-induced genes in pancreatic β-cells by meta-analysis and network inference.
Lopes M, Kutlu B, Miani M, ..., Bontempi G, Eizirik DL
Genomics 103 (4) 264-275 [2014-04-00; online 2014-01-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, Thorleifsson G, Beer NL, ..., Stefansson K, Altshuler D
Nat. Genet. 46 (4) 357-363 [2014-04-00; online 2014-03-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation changes in genes frequently mutated in sporadic colorectal cancer and in the DNA repair and Wnt/β-catenin signaling pathway genes.
Farkas SA, Vymetalkova V, Vodickova L, Vodicka P, Nilsson TK
Epigenomics 6 (2) 179-191 [2014-04-00; online 2014-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.
Walther C, Tayebwa J, Lilljebjörn H, ..., Fletcher CD, Mertens F
J. Pathol. 232 (5) 534-540 [2014-04-00; online 2014-01-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A central role for GRB10 in regulation of islet function in man.
Prokopenko I, Poon W, Mägi R, ..., Groop L, Lyssenko V
PLoS Genet. 10 (4) e1004235 [2014-04-00; online 2014-04-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A replication study of GWAS findings in migraine identifies association in a Swedish case-control sample.
Ran C, Graae L, Magnusson PK, ..., Olson L, Belin AC
BMC Med. Genet. 15 (-) 38 [2014-03-28; online 2014-03-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High prevalence of pfcrt-CVIET haplotype in isolates from asymptomatic and symptomatic patients in south-central Oromia, Ethiopia.
Golassa L, Enweji N, Erko B, Aseffa A, Swedberg G
Malar. J. 13 (-) 120 [2014-03-27; online 2014-03-27]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, ..., Kohane IS, Margulies DM
Genome Biol. 15 (3) R53 [2014-03-25; online 2014-03-25]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Draft Genome Sequence of Pseudomonas aeruginosa SG17M, an Environmental Isolate Belonging to Clone C, Prevalent in Patients and Aquatic Habitats.
Lee C, Peters V, Melefors O, Römling U
Genome Announc 2 (2) - [2014-03-20; online 2014-03-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing.
Ameur A, Meiring TL, Bunikis I, ..., Williamson AL, Gyllensten U
Sci Rep 4 (-) 4398 [2014-03-18; online 2014-03-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic characterization of a novel Iflavirus associated with vomiting disease in the Chinese oak silkmoth Antheraea pernyi.
Geng P, Li W, Lin L, ..., An L, Terenius O
PLoS ONE 9 (3) e92107 [2014-03-17; online 2014-03-17]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Sequencing degraded RNA addressed by 3' tag counting.
Sigurgeirsson B, Emanuelsson O, Lundeberg J
PLoS ONE 9 (3) e91851 [2014-03-14; online 2014-03-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Whole genome sequencing of the black grouse (Tetrao tetrix): reference guided assembly suggests faster-Z and MHC evolution.
Wang B, Ekblom R, Bunikis I, Siitari H, Höglund J
BMC Genomics 15 (-) 180 [2014-03-06; online 2014-03-06]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The Dictyostelium discoideum RNA-dependent RNA polymerase RrpC silences the centromeric retrotransposon DIRS-1 post-transcriptionally and is required for the spreading of RNA silencing signals.
Wiegand S, Meier D, Seehafer C, ..., Söderbom F, Hammann C
Nucleic Acids Res. 42 (5) 3330-3345 [2014-03-00; online 2013-12-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours.
Crona J, Maharjan R, Delgado Verdugo A, ..., Hellman P, Björklund P
Fam. Cancer 13 (1) 121-125 [2014-03-00; online 2013-06-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Investigation of a putative melanoma susceptibility locus at chromosome 3q29.
Tuominen R, Jönsson G, Enerbäck C, ..., Hansson J, Höiom V
Cancer Genet 207 (3) 70-74 [2014-03-00; online 2014-02-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium , Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium , South Asian Type 2 Diabetes (SAT2D) Consortium , ..., McCarthy MI, Morris AP
Nat. Genet. 46 (3) 234-244 [2014-03-00; online 2014-02-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia.
Mansouri L, Sutton LA, Ljungström V, ..., Nilsson M, Rosenquist R
Leukemia 28 (3) 694-696 [2014-03-00; online 2013-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Cancer death is related to high palmitoleic acid in serum and to polymorphisms in the SCD-1 gene in healthy Swedish men.
Byberg L, Kilander L, Warensjö Lemming E, Michaëlsson K, Vessby B
Am. J. Clin. Nutr. 99 (3) 551-558 [2014-03-00; online 2013-12-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Robust isolation of malignant plasma cells in multiple myeloma
Frigyesi I, Adolfsson J, Ali M, ..., Hansson M, Nilsson B
Blood 123 (9) 1336-1340 [2014-02-27; online 2014-02-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Functional tradeoffs underpin salinity-driven divergence in microbial community composition.
Dupont CL, Larsson J, Yooseph S, ..., Venter JC, Bergman B
PLoS ONE 9 (2) e89549 [2014-02-27; online 2014-02-27]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Okada Y, Wu D, Trynka G, ..., Yamamoto K, Plenge RM
Nature 506 (7488) 376-381 [2014-02-20; online 2013-12-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An alternative root for the eukaryote tree of life.
He D, Fiz-Palacios O, Fu CJ, ..., Tsai CC, Baldauf SL
Curr. Biol. 24 (4) 465-470 [2014-02-17; online 2014-02-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Integrative genome and transcriptome analyses reveal two distinct types of ring chromosome in soft tissue sarcomas.
Nord KH, Macchia G, Tayebwa J, ..., Mandahl N, Mertens F
Hum. Mol. Genet. 23 (4) 878-888 [2014-02-15; online 2013-09-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
BET bromodomain inhibition of MYC-amplified medulloblastoma.
Bandopadhayay P, Bergthold G, Nguyen B, ..., Beroukhim R, Cho YJ
Clin. Cancer Res. 20 (4) 912-925 [2014-02-15; online 2013-12-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Microevolution during an Anthrax outbreak leading to clonal heterogeneity and penicillin resistance.
Ågren J, Finn M, Bengtsson B, Segerman B
PLoS ONE 9 (2) e89112 [2014-02-13; online 2014-02-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Visual detection of DNA on paper chips.
Song Y, Gyarmati P, Araújo AC, ..., Brumer H, Ståhl PL
Anal. Chem. 86 (3) 1575-1582 [2014-02-04; online 2014-01-17]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Intraclonal variations among Streptococcus pneumoniae isolates influence the likelihood of invasive disease in children.
Browall S, Norman M, Tångrot J, ..., Normark S, Henriques-Normark B
J. Infect. Dis. 209 (3) 377-388 [2014-02-01; online 2013-09-07]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.
Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N
Am. J. Med. Genet. A 164A (2) 353-359 [2014-02-00; online 2014-01-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The genome of Spironucleus salmonicida highlights a fish pathogen adapted to fluctuating environments.
Xu F, Jerlström-Hultqvist J, Einarsson E, ..., Svärd SG, Andersson JO
PLoS Genet. 10 (2) e1004053 [2014-02-00; online 2014-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma.
Macchia G, Nord KH, D'Alessandro G, ..., Storlazzi CT, Mertens F
Oncol. Rep. 31 (2) 807-811 [2014-02-00; online 2013-12-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Global DNA methylation patterns through an array-based approach in small intestinal neuroendocrine tumors.
Verdugo AD, Crona J, Starker L, ..., Hellman P, Björklund P
Endocr. Relat. Cancer 21 (1) L5-L7 [2014-02-00; online 2013-11-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Collecting and preserving biological samples from challenging environments for DNA analysis.
Buś MM, Allen M
Biopreserv Biobank 12 (1) 17-22 [2014-02-00; online 2014-03-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.
Fagerberg L, Hallström BM, Oksvold P, ..., Ponten F, Uhlén M
Mol. Cell Proteomics 13 (2) 397-406 [2014-02-00; online 2013-12-07]
Affinity Proteomics Stockholm [Technology development] Autoimmunity and Serology Profiling [Technology development] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics Tissue Profiling
PubMed DOI Crossref
A possible genetic association with chronic fatigue in primary Sjögren's syndrome: a candidate gene study.
Norheim KB, Le Hellard S, Nordmark G, ..., Jonsson R, Omdal R
Rheumatol. Int. 34 (2) 191-197 [2014-02-00; online 2013-09-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Increased alpha-9 human papillomavirus species viral load in human immunodeficiency virus positive women.
Mbulawa ZZ, Johnson LF, Marais DJ, ..., Gyllensten U, Williamson AL
BMC Infect. Dis. 14 (-) 51 [2014-01-31; online 2014-01-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Trypanosoma cruzi Clone Dm28c Draft Genome Sequence.
Grisard EC, Teixeira SM, de Almeida LG, ..., Andersson B, de Vasconcelos AT
Genome Announc 2 (1) - [2014-01-30; online 2014-01-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Mycobacteria bypass mucosal NF-kB signalling to induce an epithelial anti-inflammatory IL-22 and IL-10 response.
Lutay N, Håkansson G, Alaridah N, ..., Westergren-Thorsson G, Godaly G
PLoS ONE 9 (1) e86466 [2014-01-28; online 2014-01-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
BDNF polymorphisms are linked to poorer working memory performance, reduced cerebellar and hippocampal volumes and differences in prefrontal cortex in a Swedish elderly population.
Brooks SJ, Nilsson EK, Jacobsson JA, ..., Lind L, Schiöth HB
PLoS ONE 9 (1) e82707 [2014-01-23; online 2014-01-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
Crona J, Nordling M, Maharjan R, ..., Hellman P, Björklund P
PLoS ONE 9 (1) e86756 [2014-01-22; online 2014-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Eight New Genomes and Synthetic Controls Increase the Accessibility of Rapid Melt-MAMA SNP Typing of Coxiella burnetii
Karlsson E, Macellaro A, Byström M, ..., Sjödin A, Myrtennäs K
PLoS ONE 9 (1) e85417 [2014-01-21; online 2014-01-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Host-specificity and dynamics in bacterial communities associated with Bloom-forming freshwater phytoplankton.
Bagatini IL, Eiler A, Bertilsson S, ..., Tessarolli LP, Vieira AAH
PLoS ONE 9 (1) e85950 [2014-01-20; online 2014-01-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transmission of hepatitis C virus among intravenous drug users in the Uppsala region of Sweden.
Danielsson A, Palanisamy N, Golbob S, ..., Sylvan S, Lennerstrand J
Infect Ecol Epidemiol 4 (-) - [2014-01-15; online 2014-01-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.
Müller ML, Chiang SC, Meeths M, ..., Naqvi A, Bryceson YT
Front Immunol 4 (-) 515 [2014-01-14; online 2014-01-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Draft Genome Sequence of Saccharopolyspora rectivirgula.
Pettersson BM, Behra PR, Manduva S, ..., Bhattacharya A, Kirsebom LA
Genome Announc 2 (1) - [2014-01-09; online 2014-01-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Assessment of whole genome amplification for sequence capture and massively parallel sequencing.
Hasmats J, Gréen H, Orear C, ..., Käller M, Lundeberg J
PLoS ONE 9 (1) e84785 [2014-01-07; online 2014-01-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Why time matters: codon evolution and the temporal dynamics of dN/dS.
Mugal CF, Wolf JB, Kaj I
Mol. Biol. Evol. 31 (1) 212-231 [2014-01-00; online 2013-10-17]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The maintenance of mitochondrial genetic variation by negative frequency-dependent selection.
Kazancıoğlu E, Arnqvist G
Ecol. Lett. 17 (1) 22-27 [2014-01-00; online 2013-10-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Magnetic bead assisted labeling of antibodies at nanogram scale.
Dezfouli M, Vickovic S, Iglesias MJ, ..., Schwenk JM, Ahmadian A
Proteomics 14 (1) 14-18 [2014-01-00; online 2013-12-07]
Affinity Proteomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
HiRIEF LC-MS enables deep proteome coverage and unbiased proteogenomics.
Branca RM, Orre LM, Johansson HJ, ..., Käll L, Lehtiö J
Nat. Methods 11 (1) 59-62 [2014-01-00; online 2013-11-17]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, ..., Mäkitie O, Nordgren A
J. Med. Genet. 51 (1) 45-54 [2014-01-00; online 2013-11-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Year 2013

PubMed DOI Crossref
Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.
Bolin K, Sandling JK, Zickert A, ..., Gunnarsson I, Nordmark G
PLoS ONE 8 (12) e84450 [2013-12-27; online 2013-12-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B.
Karlsson EK, Sigurdsson S, Ivansson E, ..., Breen M, Lindblad-Toh K
Genome Biol. 14 (12) R132 [2013-12-12; online 2013-12-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden.
Kontham V, von Holst S, Lindblom A
PLoS ONE 8 (12) e83936 [2013-12-11; online 2013-12-11]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Utilizing twins as controls for non-twin case-materials in genome wide association studies.
Ganna A, Ortega-Alonso A, Havulinna A, ..., Hultman CM, Magnusson PKE
PLoS ONE 8 (12) e83101 [2013-12-10; online 2013-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.
Berglund EC, Lindqvist CM, Hayat S, ..., Lönnerholm G, Syvänen AC
BMC Genomics 14 (-) 856 [2013-12-05; online 2013-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Integrated molecular portrait of non-small cell lung cancers.
Lazar V, Suo C, Orear C, ..., Hansson J, Pawitan Y
BMC Med Genomics 6 (-) 53 [2013-12-03; online 2013-12-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Using transcriptomics to improve butanol tolerance of Synechocystis sp. strain PCC 6803.
Anfelt J, Hallström B, Nielsen J, Uhlén M, Hudson EP
Appl. Environ. Microbiol. 79 (23) 7419-7427 [2013-12-00; online 2013-09-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
High expression of glycolytic and pigment proteins is associated with worse clinical outcome in stage III melanoma.
Falkenius J, Lundeberg J, Johansson H, ..., Hansson J, Egyhazi Brage S
Melanoma Res. 23 (6) 452-460 [2013-12-00; online 2013-10-17]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation at the IGF1 locus shows association with post-stroke outcome and to circulating IGF1.
Aberg ND, Olsson S, Aberg D, ..., Isgaard J, Jern C
Eur. J. Endocrinol. 169 (6) 759-765 [2013-12-00; online 2013-10-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.
Stephens SH, Hartz SM, Hoft NR, ..., Bierut LJ, Ehringer MA
Genet. Epidemiol. 37 (8) 846-859 [2013-12-00; online 2013-11-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Single-cell genomics reveal low recombination frequencies in freshwater bacteria of the SAR11 clade.
Zaremba-Niedzwiedzka K, Viklund J, Zhao W, ..., Stepanauskas R, Andersson SG
Genome Biol. 14 (11) R130 [2013-11-28; online 2013-11-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux.
Ek WE, Levine DM, D'Amato M, ..., MacGregor S, BEACON study investigators
J. Natl. Cancer Inst. 105 (22) 1711-1718 [2013-11-20; online 2013-10-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
De novo SNP discovery in the Scandinavian brown bear (Ursus arctos).
Norman AJ, Street NR, Spong G
PLoS ONE 8 (11) e81012 [2013-11-18; online 2013-11-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
miR-128 regulates non-myocyte hyperplasia, deposition of extracellular matrix and Islet1 expression during newt cardiac regeneration.
Witman N, Heigwer J, Thaler B, Lui WO, Morrison JI
Dev. Biol. 383 (2) 253-263 [2013-11-15; online 2013-09-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.
Zaghlool A, Ameur A, Nyberg L, ..., Cavelier L, Feuk L
BMC Biotechnol. 13 (-) 99 [2013-11-13; online 2013-11-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Disturbance induced decoupling between host genetics and composition of the associated microbiome.
Wegner KM, Volkenborn N, Peter H, Eiler A
BMC Microbiol. 13 (-) 252 [2013-11-09; online 2013-11-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.
Bysani M, Wallerman O, Bornelöv S, ..., Komorowski J, Wadelius C
BMC Med Genomics 6 (-) 50 [2013-11-08; online 2013-11-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairs.
Hemani G, Yang J, Vinkhuyzen A, ..., Martin NG, Visscher PM
Am. J. Hum. Genet. 93 (5) 865-875 [2013-11-07; online 2013-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of candidate genes and mutations in QTL regions for chicken growth using bioinformatic analysis of NGS and SNP-chip data.
Ahsan M, Li X, Lundberg AE, ..., Carlborg O, Marklund S
Front Genet 4 (-) 226 [2013-11-05; online 2013-11-05]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
In vitro and in vivo evaluation of osteoporosis therapeutic peptide PTH 1-34 loaded pegylated chitosan nanoparticles.
Narayanan D, Anitha A, Jayakumar R, Chennazhi KP
Mol. Pharm. 10 (11) 4159-4167 [2013-11-04; online 2013-09-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
7,8- and 5,8-Linoleate diol synthases support the heterolytic scission of oxygen-oxygen bonds by different amide residues.
Hoffmann I, Oliw EH
Arch. Biochem. Biophys. 539 (1) 87-91 [2013-11-01; online 2013-09-26]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
Lessard CJ, Li H, Adrianto I, ..., Harley JB, Sivils KL
Nat. Genet. 45 (11) 1284-1292 [2013-11-00; online 2013-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
't Hoen PA, Friedländer MR, Almlöf J, ..., Dermitzakis ET, Lappalainen T
Nat. Biotechnol. 31 (11) 1015-1022 [2013-11-00; online 2013-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide DNA methylation assay reveals novel candidate biomarker genes in cervical cancer.
Farkas SA, Milutin-Gašperov N, Grce M, Nilsson TK
Epigenetics 8 (11) 1213-1225 [2013-11-00; online 2013-09-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Discovery and refinement of loci associated with lipid levels.
Global Lipids Genetics Consortium N, Willer CJ, Schmidt EM, ..., Ingelsson E, Abecasis GR
Nat. Genet. 45 (11) 1274-1283 [2013-11-00; online 2013-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Do R, Willer CJ, Schmidt EM, ..., Neale BM, Kathiresan S
Nat. Genet. 45 (11) 1345-1352 [2013-11-00; online 2013-10-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Association of genes in the NF-κB pathway with antibody-positive primary Sjögren's syndrome.
Nordmark G, Wang C, Vasaitis L, ..., Syvänen AC, UK Primary Sjögren’s Syndrome Registry
Scand. J. Immunol. 78 (5) 447-454 [2013-11-00; online 2013-08-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Chemical fragmentation for massively parallel sequencing library preparation.
Gyarmati P, Song Y, Hällman J, Käller M
J. Biotechnol. 168 (1) 95-100 [2013-10-10; online 2013-09-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene.
Djos A, Fransson S, Kogner P, Martinsson T
BMC Med. Genet. 14 (-) 102 [2013-10-02; online 2013-10-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Transcription factor ZBED6 affects gene expression, proliferation, and cell death in pancreatic beta cells.
Wang X, Jiang L, Wallerman O, ..., Andersson L, Welsh N
Proc. Natl. Acad. Sci. U.S.A. 110 (40) 15997-16002 [2013-10-01; online 2013-09-16]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Recent advances in crayfish hematopoietic stem cell culture: a model for studies of hemocyte differentiation and immunity.
Söderhäll I
Cytotechnology 65 (5) 691-695 [2013-10-00; online 2013-05-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Determining indicator taxa across spatial and seasonal gradients in the Columbia River coastal margin.
Fortunato CS, Eiler A, Herfort L, ..., Peterson TD, Crump BC
ISME J 7 (10) 1899-1911 [2013-10-00; online 2013-05-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor.
Mohajeri A, Tayebwa J, Collin A, ..., Nord KH, Mertens F
Genes Chromosomes Cancer 52 (10) 873-886 [2013-10-00; online 2013-06-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, ..., Estivill X, Dermitzakis ET
Nature 501 (7468) 506-511 [2013-09-26; online 2013-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants of coagulation factor XI show association with ischemic stroke up to 70 years of age.
Hanson E, Nilsson S, Jood K, ..., Melander O, Jern C
PLoS ONE 8 (9) e75286 [2013-09-25; online 2013-09-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia.
Nordlund J, Bäcklin CL, Wahlberg P, ..., Lönnerholm G, Syvänen AC
Genome Biol. 14 (9) r105 [2013-09-24; online 2013-09-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
Andersson LS, Wilbe M, Viluma A, ..., Ewart S, Lindgren G
PLoS ONE 8 (9) e75639 [2013-09-23; online 2013-09-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A metagenomics transect into the deepest point of the Baltic Sea reveals clear stratification of microbial functional capacities.
Thureborn P, Lundin D, Plathan J, ..., Sjöberg BM, Sjöling S
PLoS ONE 8 (9) e74983 [2013-09-23; online 2013-09-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Sabater-Lleal M, Huang J, Chasman D, ..., Hamsten A, O'Donnell CJ
Circulation 128 (12) 1310-1324 [2013-09-17; online 2013-08-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.
Razzaghian HR, Forsberg LA, Prakash KR, ..., Absher D, Dumanski JP
PLoS ONE 8 (9) e67752 [2013-09-04; online 2013-09-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Phylogeography of willow grouse (Lagopus lagopus) in the Arctic: taxonomic discordance as inferred from molecular data
Höglund J, Wang B, Axelsson T, Quintela M
Biol J Linn Soc Lond 110 (1) 77-90 [2013-09-00; online 2013-05-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multilocus genetic risk scores for coronary heart disease prediction.
Ganna A, Magnusson PKE, Pedersen NL, ..., Hamsten A, Ingelsson E
Arterioscler. Thromb. Vasc. Biol. 33 (9) 2267-2272 [2013-09-00; online 2013-05-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols.
Paulsson K, Forestier E, Andersen MK, ..., Swedish Cytogenetic Leukemia Study Group (SCLSG) , NOPHO Leukemia Cytogenetic Study Group (NLCSG)
Haematologica 98 (9) 1424-1432 [2013-09-00; online 2013-05-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Glutamatergic GRIN2B and polyaminergic ODC1 genes in suicide attempts: associations and gene-environment interactions with childhood/adolescent physical assault.
Sokolowski M, Ben-Efraim YJ, Wasserman J, Wasserman D
Mol. Psychiatry 18 (9) 985-992 [2013-09-00; online 2012-08-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population.
Lind L, Penell J, Luttropp K, ..., Ingelsson E, Lind PM
Environ Int 59 (-) 456-461 [2013-09-00; online 2013-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.
Zheleznyakova GY, Voisin S, Kiselev AV, ..., Baranov VS, Schiöth HB
Eur. J. Hum. Genet. 21 (9) 988-993 [2013-09-00; online 2013-01-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Cross-Disorder Group of the Psychiatric Genomics Consortium N, Lee SH, Ripke S, ..., Wray NR, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC) N
Nat. Genet. 45 (9) 984-994 [2013-09-00; online 2013-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.
Wang C, Ahlford A, Järvinen TM, ..., Syvänen AC, Sandling JK
Eur. J. Hum. Genet. 21 (9) 994-999 [2013-09-00; online 2012-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Comparison of the nodule vs. root transcriptome of the actinorhizal plant Datisca glomerata: actinorhizal nodules contain a specific class of defensins.
Demina IV, Persson T, Santos P, Plaszczyca M, Pawlowski K
PLoS ONE 8 (8) e72442 [2013-08-29; online 2013-08-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide transcriptional analysis of Drosophila larvae infected by entomopathogenic nematodes shows involvement of complement, recognition and extracellular matrix proteins.
Arefin B, Kucerova L, Dobes P, ..., Zurovec M, Theopold U
J Innate Immun 6 (2) 192-204 [2013-08-27; online 2013-08-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide relatedness of Treponema pedis, from gingiva and necrotic skin lesions of pigs, with the human oral pathogen Treponema denticola.
Svartström O, Mushtaq M, Pringle M, Segerman B
PLoS ONE 8 (8) e71281 [2013-08-19; online 2013-08-19]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Automated serial extraction of DNA and RNA from biobanked tissue specimens.
Mathot L, Wallin M, Sjöblom T
BMC Biotechnol. 13 (-) 66 [2013-08-19; online 2013-08-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The STK33-linked SNP rs4929949 is associated with obesity and BMI in two independent cohorts of Swedish and Greek children.
Rask-Andersen M, Moschonis G, Chrousos GP, ..., Fredriksson R, Schiöth HB
PLoS ONE 8 (8) e71353 [2013-08-15; online 2013-08-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4.
Karlsson R, Andreassen KE, Kristiansen W, ..., Grotmol T, Wiklund F
Hum. Mol. Genet. 22 (16) 3373-3380 [2013-08-15; online 2013-05-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
Hu Y, Berndt SI, Gustafsson S, ..., Ingelsson E, Lin D
Am. J. Hum. Genet. 93 (2) 236-248 [2013-08-08; online 2013-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of adenovirus-encoded small RNAs by deep RNA sequencing.
Zhao H, Chen M, Pettersson U
Virology 442 (2) 148-155 [2013-08-01; online 2013-05-11]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Molecular identification and phylogenic analysis by sequencing the rDNA of copper-tolerant soft-rot Phialophora spp.
Karunasekera H, Daniel G
International Biodeterioration & Biodegradation 82 (-) 45-52 [2013-08-00; online 2013-08-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation.
Lind L, Ingelsson E, Kumar J, ..., Axelsson T, Teerlink T
Vasc Med 18 (4) 192-199 [2013-08-00; online 2013-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
Kvarnung M, Nilsson D, Lindstrand A, ..., Nordenskjöld M, Nordgren A
J. Med. Genet. 50 (8) 521-528 [2013-08-00; online 2013-05-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
New viruses in veterinary medicine, detected by metagenomic approaches.
Belák S, Karlsson OE, Blomström AL, Berg M, Granberg F
Vet. Microbiol. 165 (1-2) 95-101 [2013-07-26; online 2013-02-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry.
Ahmad S, Rukh G, Varga TV, ..., Orho-Melander M, Franks PW
PLoS Genet. 9 (7) e1003607 [2013-07-25; online 2013-07-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
NCR3/NKp30 contributes to pathogenesis in primary Sjogren's syndrome.
Rusakiewicz S, Nocturne G, Lazure T, ..., Zitvogel L, Mariette X
Sci Transl Med 5 (195) 195ra96 [2013-07-24; online 2013-07-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants in hormone-related genes and risk of breast cancer.
Clendenen T, Zeleniuch-Jacquotte A, Wirgin I, ..., Shore RE, Chen Y
PLoS ONE 8 (7) e69367 [2013-07-23; online 2013-07-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling.
Edvardsen H, Landmark-Høyvik H, Reinertsen KV, ..., Fosså SD, Kristensen VN
Int. J. Radiat. Oncol. Biol. Phys. 86 (4) 791-799 [2013-07-15; online 2013-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Cousminer DL, Berry DJ, Timpson NJ, ..., Widén E, Early Growth Genetics (EGG) Consortium
Hum. Mol. Genet. 22 (13) 2735-2747 [2013-07-01; online 2013-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing.
Crona J, Delgado Verdugo A, Maharjan R, ..., Hellman P, Björklund P
J. Clin. Endocrinol. Metab. 98 (7) E1266-E1271 [2013-07-00; online 2013-05-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.
Forsberg LA, Absher D, Dumanski JP
Postgrad Med J 89 (1053) 417-426 [2013-07-00; online 2013-06-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Massive functional mapping of a 5'-UTR by saturation mutagenesis, phenotypic sorting and deep sequencing.
Holmqvist E, Reimegård J, Wagner EG
Nucleic Acids Res. 41 (12) e122 [2013-07-00; online 2013-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Implications of baseline polymorphisms for potential resistance to NS3 protease inhibitors in Hepatitis C virus genotypes 1a, 2b and 3a.
Palanisamy N, Danielsson A, Kokkula C, ..., Duberg AS, Lennerstrand J
Antiviral Res. 99 (1) 12-17 [2013-07-00; online 2013-05-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Family-based study of HTR2A in suicide attempts: observed gene, gene × environment and parent-of-origin associations.
Ben-Efraim YJ, Wasserman D, Wasserman J, Sokolowski M
Mol. Psychiatry 18 (7) 758-766 [2013-07-00; online 2012-07-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Family-based study of AVPR1B association and interaction with stressful life events on depression and anxiety in suicide attempts.
Ben-Efraim YJ, Wasserman D, Wasserman J, Sokolowski M
Neuropsychopharmacology 38 (8) 1504-1511 [2013-07-00; online 2013-02-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Clinical depression, antidepressant use and risk of future cardiovascular disease.
Rahman I, Humphreys K, Bennet AM, ..., Pedersen NL, Magnusson PK
Eur. J. Epidemiol. 28 (7) 589-595 [2013-07-00; online 2013-07-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
Khan TN, Klar J, Ali Z, ..., Baig SM, Dahl N
Eur J Med Genet 56 (7) 371-374 [2013-07-00; online 2013-05-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Active nitrogen-fixing heterotrophic bacteria at and below the chemocline of the central Baltic Sea.
Farnelid H, Bentzon-Tilia M, Andersson AF, ..., Jürgens K, Riemann L
ISME J 7 (7) 1413-1423 [2013-07-00; online 2013-03-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Unbiased approach for virus detection in skin lesions.
Bzhalava D, Johansson H, Ekström J, ..., Forslund O, Dillner J
PLoS ONE 8 (6) e65953 [2013-06-28; online 2013-06-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Continuous Aging of the Human DNA Methylome Throughout the Human Lifespan.
Johansson A, Enroth S, Gyllensten U
PLoS ONE 8 (6) e67378 [2013-06-27; online 2013-06-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.
Fall T, Hägg S, Mägi R, ..., Prokopenko I, European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium N
PLoS Med. 10 (6) e1001474 [2013-06-25; online 2013-06-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Rietveld CA, Medland SE, Derringer J, ..., Cesarini D, Koellinger PD
Science 340 (6139) 1467-1471 [2013-06-21; online 2013-06-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular genetics and subjective well-being.
Rietveld CA, Cesarini D, Benjamin DJ, ..., Krueger RF, Bartels M
Proc. Natl. Acad. Sci. U.S.A. 110 (24) 9692-9697 [2013-06-11; online 2013-05-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Contribution of antibody-based protein profiling to the human Chromosome-centric Proteome Project (C-HPP).
Fagerberg L, Oksvold P, Skogs M, ..., von Feilitzen K, Uhlén M
J. Proteome Res. 12 (6) 2439-2448 [2013-06-07; online 2013-01-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics Tissue Profiling
PubMed DOI Crossref
Promoter DNA methylation pattern identifies prognostic subgroups in childhood T-cell acute lymphoblastic leukemia.
Borssén M, Palmqvist L, Karrman K, ..., Roos G, Degerman S
PLoS ONE 8 (6) e65373 [2013-06-06; online 2013-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.
Crona J, Verdugo AD, Granberg D, ..., Hellman P, Björklund P
Endocr Connect 2 (2) 104-111 [2013-06-01; online 2013-05-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Stepping-stone expansion and habitat loss explain a peculiar genetic structure and distribution of a forest insect.
Cassel-Lundhagen A, Ronnås C, Battisti A, Wallén J, Larsson S
Mol. Ecol. 22 (12) 3362-3375 [2013-06-00; online 2013-05-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Sortilin receptor 1 predicts longitudinal cognitive change.
Reynolds CA, Zavala C, Gatz M, ..., Prince JA, Pedersen NL
Neurobiol. Aging 34 (6) 1710.e11-1710.e18 [2013-06-00; online 2013-01-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall JC, Winkler TW, Kutalik Z, ..., North KE, Heid IM
PLoS Genet. 9 (6) e1003500 [2013-06-00; online 2013-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prevalence of extended-spectrum beta-lactamase-producing Enterobacteriaceae in healthy Swedish preschool children.
Kaarme J, Molin Y, Olsen B, Melhus A
Acta Paediatr. 102 (6) 655-660 [2013-06-00; online 2013-02-20]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Parallel visualization of multiple protein complexes in individual cells in tumor tissue.
Leuchowius KJ, Clausson CM, Grannas K, ..., Landegren U, Söderberg O
Mol. Cell Proteomics 12 (6) 1563-1571 [2013-06-00; online 2013-02-26]
Affinity Proteomics Uppsala [Technology development] NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure PLA and Single Cell Proteomics
PubMed DOI Crossref
No association of primary Sjögren's syndrome with Fcγ receptor gene variants.
Haldorsen K, Appel S, Le Hellard S, ..., Jonsson R, Bolstad AI
Genes Immun. 14 (4) 234-237 [2013-06-00; online 2013-04-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
den Hoed M, Eijgelsheim M, Esko T, ..., Samani NJ, Loos RJF
Nat. Genet. 45 (6) 621-631 [2013-06-00; online 2013-04-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants.
Leonard D, Svenungsson E, Sandling JK, ..., Syvänen AC, Rönnblom L
Circ Cardiovasc Genet 6 (3) 255-263 [2013-06-00; online 2013-05-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility.
Wang C, Ahlford A, Laxman N, ..., Rönnblom L, Syvänen AC
Genes Immun. 14 (4) 217-222 [2013-06-00; online 2013-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Circadian regulation of melanization and prokineticin homologues is conserved in the brain of freshwater crayfish and zebrafish.
Noonin C, Watthanasurorot A, Winberg S, Söderhäll I
Dev. Comp. Immunol. 40 (2) 218-226 [2013-06-00; online 2013-03-19]
Genome Engineering Zebrafish NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A significant fraction of 21-nucleotide small RNA originates from phased degradation of resistance genes in several perennial species.
Källman T, Chen J, Gyllenstrand N, Lagercrantz U
Plant Physiol. 162 (2) 741-754 [2013-06-00; online 2013-04-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The Norway spruce genome sequence and conifer genome evolution.
Nystedt B, Street NR, Wetterbom A, ..., Lundeberg J, Jansson S
Nature 497 (7451) 579-584 [2013-05-30; online 2013-05-22]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support for Computational Resources Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Metagenomic de novo assembly of an aquatic representative of the verrucomicrobial class Spartobacteria.
Herlemann DP, Lundin D, Labrenz M, ..., Aspeborg H, Andersson AF
MBio 4 (3) e00569-e00512 [2013-05-28; online 2013-05-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Adaptive mutations and replacements of virulence traits in the Escherichia coli O104:H4 outbreak population.
Guy L, Jernberg C, Arvén Norling J, ..., Engstrand L, Andersson SGE
PLoS ONE 8 (5) e63027 [2013-05-10; online 2013-05-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation.
Cetinkaya C, Martinsson T, Sandgren J, ..., Díaz de Ståhl T, Hedborg F
BMC Cancer 13 (-) 231 [2013-05-09; online 2013-05-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study of susceptibility loci for cervical cancer.
Chen D, Juko-Pecirep I, Hammer J, ..., Wilander E, Gyllensten U
J. Natl. Cancer Inst. 105 (9) 624-633 [2013-05-01; online 2013-03-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population.
Lind L, Syvänen AC, Axelsson T, ..., Hägg S, Larsson A
Acta Physiol (Oxf) 208 (1) 88-94 [2013-05-00; online 2013-01-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The combined effects of single-nucleotide polymorphisms, tobacco products, and ethanol on normal resting blood mononuclear cells.
Cederblad L, Thunberg U, Engström M, ..., Rutqvist LE, Laytragoon-Lewin N
Nicotine Tob. Res. 15 (5) 890-895 [2013-05-00; online 2012-10-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The adenovirus VA RNA-derived miRNAs are not essential for lytic virus growth in tissue culture cells.
Kamel W, Segerman B, Öberg D, Punga T, Akusjärvi G
Nucleic Acids Res. 41 (9) 4802-4812 [2013-05-00; online 2013-03-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Identification of acetate-oxidizing bacteria in a coastal marine surface sediment by RNA-stable isotope probing in anoxic slurries and intact cores.
Vandieken V, Thamdrup B
FEMS Microbiol. Ecol. 84 (2) 373-386 [2013-05-00; online 2013-01-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.
Mannila MN, Mahdessian H, Franco-Cereceda A, ..., Hamsten A, van 't Hooft FM
Arterioscler. Thromb. Vasc. Biol. 33 (5) 1063-1069 [2013-05-00; online 2013-02-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification and expression of stressosomal proteins in Mycobacterium marinum under various growth and stress conditions.
Pettersson BMF, Nitharwal RG, Das S, ..., Bhattacharya A, Kirsebom LA
FEMS Microbiol. Lett. 342 (2) 98-105 [2013-05-00; online 2013-03-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Berndt SI, Gustafsson S, Mägi R, ..., Loos RJF, Ingelsson E
Nat. Genet. 45 (5) 501-512 [2013-05-00; online 2013-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis.
Tengvall K, Kierczak M, Bergvall K, ..., Hedhammar Å, Lindblad-Toh K
PLoS Genet. 9 (5) e1003475 [2013-05-00; online 2013-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?
Ganna A, Rivadeneira F, Hofman A, ..., Ingelsson E, Tiemeier H
Hum. Genet. 132 (5) 553-561 [2013-05-00; online 2013-01-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SoxB1-driven transcriptional network underlies neural-specific interpretation of morphogen signals.
Oosterveen T, Kurdija S, Ensterö M, ..., Muhr J, Ericson J
Proc. Natl. Acad. Sci. U.S.A. 110 (18) 7330-7335 [2013-04-30; online 2013-04-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Expression of fusion proteins of Aspergillus terreus reveals a novel allene oxide synthase.
Hoffmann I, Jernerén F, Oliw EH
J. Biol. Chem. 288 (16) 11459-11469 [2013-04-19; online 2013-03-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Viral Metagenomics – New applications for the broad-range detection of viromes in veterinary and public health settings
Karlsson OE, Norling M, Granberg F, Belák S, Bongcam-Rudloff E
EMBnet j. 19 (A) 21 [2013-04-08; online 2013-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Metagenomics sample preparation and sequencing.
Karlsson OE, Norling M, Bongcam-Rudloff E
EMBnet j. 19 (A) 55 [2013-04-08; online 2013-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Ion Torrent sequencing and pipeline assembly of the first genome sequence of a mesophilic syntrophic acetate oxidizing bacterium (SAOB)
Manzoor S, Bongcam-Rudloff E, Schnürer A, Müller B
EMBnet j. 19 (A) 60 [2013-04-08; online 2013-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The molecular genetic architecture of self-employment.
van der Loos MJHM, Rietveld CA, Eklund N, ..., Hofman A, Thurik AR
PLoS ONE 8 (4) e60542 [2013-04-04; online 2013-04-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
β-thymosins and hemocyte homeostasis in a crustacean.
Saelee N, Noonin C, Nupan B, ..., Söderhäll K, Söderhäll I
PLoS ONE 8 (4) e60974 [2013-04-02; online 2013-04-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic determinants of dabigatran plasma levels and their relation to bleeding.
Paré G, Eriksson N, Lehr T, ..., Yusuf S, Wallentin L
Circulation 127 (13) 1404-1412 [2013-04-02; online 2013-03-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.
Radomska KJ, Halvardson J, Reinius B, ..., Feuk L, Jazin E
Hum. Mol. Genet. 22 (7) 1373-1382 [2013-04-01; online 2013-01-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Klar J, Sobol M, Melberg A, ..., Casar-Borota O, Dahl N
Hum. Mutat. 34 (4) 572-577 [2013-04-00; online 2013-01-26]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.
Nikpour M, Scharenberg C, Liu A, ..., Grandien A, Hellström-Lindberg E
Leukemia 27 (4) 889-896 [2013-04-00; online 2012-10-17]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The mitochondrial and autosomal mutation landscapes of prostate cancer.
Lindberg J, Mills IG, Klevebring D, ..., Egevad L, Grönberg H
Eur. Urol. 63 (4) 702-708 [2013-04-00; online 2012-12-26]
Karolinska High Throughput Center (KHTC) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Modelling the effects of dispersal mechanisms and hydrodynamic regimes upon the structure of microbial communities within fluvial biofilms.
Woodcock S, Besemer K, Battin TJ, Curtis TP, Sloan WT
Environ. Microbiol. 15 (4) 1216-1225 [2013-04-00; online 2012-12-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Lack of dosage compensation accompanies the arrested stage of sex chromosome evolution in ostriches.
Adolfsson S, Ellegren H
Mol. Biol. Evol. 30 (4) 806-810 [2013-04-00; online 2013-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of seven loci affecting mean telomere length and their association with disease.
Codd V, Nelson CP, Albrecht E, ..., van der Harst P, Samani NJ
Nat. Genet. 45 (4) 422-7, 427e1-2 [2013-04-00; online 2013-03-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Hereditary uveal melanoma: a report of a germline mutation in BAP1.
Höiom V, Edsgärd D, Helgadottir H, ..., Emanuelsson O, Hansson J
Genes Chromosomes Cancer 52 (4) 378-384 [2013-04-00; online 2013-01-23]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
DOI Crossref
Degradation of Scots pine and beech wood exposed in four test fields used for testing of wood preservatives
Råberg U, Terziev N, Daniel G
International Biodeterioration & Biodegradation 79 (-) 20-27 [2013-04-00; online 2013-04-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Comparative genomics of Wolbachia and the bacterial species concept.
Ellegaard KM, Klasson L, Näslund K, Bourtzis K, Andersson SG
PLoS Genet. 9 (4) e1003381 [2013-04-00; online 2013-04-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants from lipid-related pathways and risk for incident myocardial infarction.
Song C, Pedersen NL, Reynolds CA, ..., Prince JA, Ingelsson E
PLoS ONE 8 (3) e60454 [2013-03-29; online 2013-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptome profiling of Giardia intestinalis using strand-specific RNA-seq.
Franzén O, Jerlström-Hultqvist J, Einarsson E, ..., Andersson B, Svärd SG
PLoS Comput. Biol. 9 (3) e1003000 [2013-03-28; online 2013-03-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
Axelsson E, Ratnakumar A, Arendt M, ..., Hedhammar A, Lindblad-Toh K
Nature 495 (7441) 360-364 [2013-03-21; online 2013-01-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genome Sequence of a Plant-Associated Bacterium, Bacillus amyloliquefaciens Strain UCMB5036.
Manzoor S, Niazi A, Bejai S, Meijer J, Bongcam-Rudloff E
Genome Announc 1 (2) e0011113 [2013-03-21; online 2013-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of genetic variants influencing the human plasma proteome.
Johansson Å, Enroth S, Palmblad M, ..., Bergquist J, Gyllensten U
Proc. Natl. Acad. Sci. U.S.A. 110 (12) 4673-4678 [2013-03-19; online 2013-03-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification and verification of microRNAs by high-throughput sequencing.
Hällman J, Avesson L, Reimegård J, Käller M, Söderbom F
Methods Mol. Biol. 983 (-) 125-138 [2013-03-16; online 2013-03-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptome of the alternative ethanol production strain Dekkera bruxellensis CBS 11270 in sugar limited, low oxygen cultivation.
Tiukova IA, Petterson ME, Tellgren-Roth C, ..., Pettersson OV, Passoth V
PLoS ONE 8 (3) e58455 [2013-03-13; online 2013-03-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Gene rearrangements in hormone receptor negative breast cancers revealed by mate pair sequencing.
Jiao X, Hooper SD, Djureinovic T, ..., Botling J, Sjöblom T
BMC Genomics 14 (-) 165 [2013-03-12; online 2013-03-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Hierarchical molecular tagging to resolve long continuous sequences by massively parallel sequencing.
Lundin S, Gruselius J, Nystedt B, ..., Käller M, Lundeberg J
Sci Rep 3 (-) 1186 [2013-03-09; online 2013-03-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
TagGD: fast and accurate software for DNA Tag generation and demultiplexing.
Costea PI, Lundeberg J, Akan P
PLoS ONE 8 (3) e57521 [2013-03-04; online 2013-03-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
DOI Crossref
The genetic structure of the Lithuanian wolf population
Baltrūnaitė L, Balčiauskas L, Åkesson M
Open Life Sci 8 (5) 440-447 [2013-03-01; online 2013-03-01]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The effect of substrate and operational parameters on the abundance of sulphate-reducing bacteria in industrial anaerobic biogas digesters.
Moestedt J, Nilsson Påledal S, Schnürer A
Bioresour. Technol. 132 (-) 327-332 [2013-03-00; online 2013-02-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Secretion of two novel enzymes, manganese 9S-lipoxygenase and epoxy alcohol synthase, by the rice pathogen Magnaporthe salvinii.
Wennman A, Oliw EH
J. Lipid Res. 54 (3) 762-775 [2013-03-00; online 2012-12-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Oral rehydration solution with glycerol to dairy calves: Effects on fluid balance, metabolism, and intestinal microbiota
Omazic AW, Tråvén M, Roos S, Mellgren E, Holtenius K
Acta Agriculturae Scandinavica, Section A - Animal Science 63 (1) 47-56 [2013-03-00; online 2013-03-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies.
Hruby A, Ngwa JS, Renström F, ..., McKeown NM, Nettleton JA
J. Nutr. 143 (3) 345-353 [2013-03-00; online 2013-01-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
Athanasiadis G, Sabater-Lleal M, Buil A, ..., Hamsten A, Soria JM
J. Thromb. Haemost. 11 (3) 521-528 [2013-03-00; online 2013-01-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.
Pichler I, Schwienbacher C, Zanon A, ..., Hicks AA, Pramstaller PP
J. Mol. Neurosci. 49 (3) 600-605 [2013-03-00; online 2012-10-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.
Sällman Almén M, Rask-Andersen M, Jacobsson JA, ..., Fredriksson R, Schiöth HB
Int J Obes (Lond) 37 (3) 424-431 [2013-03-00; online 2012-04-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Astakine 2--the dark knight linking melatonin to circadian regulation in crustaceans.
Watthanasurorot A, Saelee N, Phongdara A, ..., Söderhäll K, Söderhäll I
PLoS Genet. 9 (3) e1003361 [2013-03-00; online 2013-03-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide assessment of variability in human serum metabolism.
Hong MG, Karlsson R, Magnusson PK, ..., Wiklund F, Prince JA
Hum. Mutat. 34 (3) 515-524 [2013-03-00; online 2013-01-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A gene transfer agent and a dynamic repertoire of secretion systems hold the keys to the explosive radiation of the emerging pathogen Bartonella.
Guy L, Nystedt B, Toft C, ..., Eriksson AS, Andersson SG
PLoS Genet. 9 (3) e1003393 [2013-03-00; online 2013-03-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Metagenomic detection of viral pathogens in Spanish honeybees: co-infection by Aphid Lethal Paralysis, Israel Acute Paralysis and Lake Sinai Viruses.
Granberg F, Vicente-Rubiano M, Rubio-Guerri C, ..., Belák S, Sánchez-Vizcaíno JM
PLoS ONE 8 (2) e57459 [2013-02-27; online 2013-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The synthetic progestin levonorgestrel is a potent androgen in the three-spined stickleback (Gasterosteus aculeatus).
Svensson J, Fick J, Brandt I, Brunström B
Environ. Sci. Technol. 47 (4) 2043-2051 [2013-02-19; online 2013-02-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Coastal bacterioplankton community dynamics in response to a natural disturbance.
Yeo SK, Huggett MJ, Eiler A, Rappé MS
PLoS ONE 8 (2) e56207 [2013-02-07; online 2013-02-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.
Vimaleswaran KS, Berry DJ, Lu C, ..., Hingorani AD, Hyppönen E
PLoS Med. 10 (2) e1001383 [2013-02-05; online 2013-02-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The phylogeographic pattern of Francisella tularensis in Sweden indicates a Scandinavian origin of Eurosiberian tularaemia.
Karlsson E, Svensson K, Lindgren P, ..., Forsman M, Johansson A
Environ. Microbiol. 15 (2) 634-645 [2013-02-00; online 2012-12-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The Swedish Twin Registry: establishment of a biobank and other recent developments.
Magnusson PKE, Almqvist C, Rahman I, ..., Pedersen NL, Lichtenstein P
Twin Res Hum Genet 16 (1) 317-329 [2013-02-00; online 2012-11-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Sequence variation in mitochondrialATPsynthase subunit 6 & 8and nuclear genesITS1andITS2in 17 cyprinid species
Demandt MH
J. Appl. Ichthyol. 29 (1) 278-280 [2013-02-00; online 2012-06-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Olfactory receptor 51E1 protein as a potential novel tissue biomarker for small intestine neuroendocrine carcinomas.
Cui T, Tsolakis AV, Li S, ..., Öberg K, Giandomenico V
Eur. J. Endocrinol. 168 (2) 253-261 [2013-02-00; online 2012-11-28]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Köttgen A, Albrecht E, Teumer A, ..., Bochud M, Gieger C
Nat. Genet. 45 (2) 145-154 [2013-02-00; online 2012-12-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
First insights into the syntrophic acetate-oxidizing bacteria--a genetic study.
Müller B, Sun L, Schnürer A
Microbiologyopen 2 (1) 35-53 [2013-02-00; online 2012-12-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Exome sequencing of prostate cancer supports the hypothesis of independent tumour origins.
Lindberg J, Klevebring D, Liu W, ..., Egevad L, Grönberg H
Eur. Urol. 63 (2) 347-353 [2013-02-00; online 2012-04-17]
Karolinska High Throughput Center (KHTC) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Early cone setting in Picea abies acrocona is associated with increased transcriptional activity of a MADS box transcription factor.
Uddenberg D, Reimegård J, Clapham D, ..., Emanuelsson O, Sundström JF
Plant Physiol. 161 (2) 813-823 [2013-02-00; online 2012-12-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
An MBL-like protein may interfere with the activation of the proPO-system, an important innate immune reaction in invertebrates.
Wu C, Charoensapsri W, Nakamura S, ..., Söderhäll I, Söderhäll K
Immunobiology 218 (2) 159-168 [2013-02-00; online 2012-03-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A gene-centric study of common carotid artery remodelling.
Harrison SC, Zabaneh D, Asselbergs FW, ..., Hamsten A, Humphries SE
Atherosclerosis 226 (2) 440-446 [2013-02-00; online 2012-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Unveiling distribution patterns of freshwater phytoplankton by a next generation sequencing based approach.
Eiler A, Drakare S, Bertilsson S, ..., Znachor P, Lindström ES
PLoS ONE 8 (1) e53516 [2013-01-22; online 2013-01-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genomic insights into the atopic eczema-associated skin commensal yeast Malassezia sympodialis.
Gioti A, Nystedt B, Li W, ..., Heitman J, Scheynius A
MBio 4 (1) e00572-e00512 [2013-01-22; online 2013-01-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide association study identifies genomic regions for virulence in the non-model organism Heterobasidion annosum s.s.
Dalman K, Himmelstrand K, Olson Å, ..., Brandström-Durling M, Stenlid J
PLoS ONE 8 (1) e53525 [2013-01-16; online 2013-01-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts.
Nettleton JA, Hivert MF, Lemaitre RN, ..., Meigs JB, Franks PW
Am. J. Epidemiol. 177 (2) 103-115 [2013-01-15; online 2012-12-21]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Exome RNA sequencing reveals rare and novel alternative transcripts.
Halvardson J, Zaghlool A, Feuk L
Nucleic Acids Res. 41 (1) e6 [2013-01-07; online 2012-08-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Proceedings of the 15th International Congress on Circumpolar Health
International Journal of Circumpolar Health 72 (1) 22447 [2013-01-00; online 2013-08-05]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.
Forsberg LA, Absher D, Dumanski JP
J. Med. Genet. 50 (1) 1-10 [2013-01-00; online 2012-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale association analysis identifies new risk loci for coronary artery disease.
CARDIoGRAMplusC4D Consortium N, Deloukas P, Kanoni S, ..., Schunkert H, Samani NJ
Nat. Genet. 45 (1) 25-33 [2013-01-00; online 2012-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.
Wang C, Sandling JK, Hagberg N, ..., Eloranta ML, Syvänen AC
Ann. Rheum. Dis. 72 (1) 96-103 [2013-01-00; online 2012-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
First Genome Sequence of a Syntrophic Acetate-Oxidizing Bacterium, Tepidanaerobacter acetatoxydans Strain Re1.
Manzoor S, Bongcam-Rudloff E, Schnürer A, Müller B
Genome Announc 1 (1) - [2013-01-00; online 2013-02-21]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
450K-array analysis of chronic lymphocytic leukemia cells reveals global DNA methylation to be relatively stable over time and similar in resting and proliferative compartments.
Cahill N, Bergh AC, Kanduri M, ..., Rosén A, Rosenquist R
Leukemia 27 (1) 150-158 [2013-01-00; online 2012-08-28]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2012

PubMed DOI Crossref
Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.
Almlöf JC, Lundmark P, Lundmark A, ..., Cambien F, Syvänen A
PLoS ONE 7 (12) e52260 [2012-12-26; online 2012-12-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genomic diversity of the 2011 European outbreaks of Escherichia coli O104:H4.
Guy L, Jernberg C, Ivarsson S, ..., Engstrand L, Andersson SG
Proc. Natl. Acad. Sci. U.S.A. 109 (52) E3627-E3628 [2012-12-26; online 2012-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
Hooper SD, Johansson AC, Tellgren-Roth C, ..., Cavelier L, Feuk L
BMC Med. Genet. 13 (-) 123 [2012-12-19; online 2012-12-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Chasman DI, Fuchsberger C, Pattaro C, ..., Fox CS, Köttgen A
Hum. Mol. Genet. 21 (24) 5329-5343 [2012-12-15; online 2012-09-11]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Evidence for small RNAs homologous to effector-encoding genes and transposable elements in the oomycete Phytophthora infestans.
Vetukuri RR, Åsman AKM, Tellgren-Roth C, ..., Whisson SC, Dixelius C
PLoS ONE 7 (12) e51399 [2012-12-14; online 2012-12-14]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
Khan TN, Klar J, Nawaz S, ..., Baig SM, Dahl N
BMC Med. Genet. 13 (-) 120 [2012-12-13; online 2012-12-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
EGFR gene variants are associated with specific somatic aberrations in glioma.
Wibom C, Ghasimi S, Van Loo P, ..., Rydén P, Melin B
PLoS ONE 7 (12) e47929 [2012-12-07; online 2012-12-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Symptomatic atherosclerosis is associated with an altered gut metagenome.
Karlsson FH, Fåk F, Nookaew I, ..., Bäckhed F, Nielsen J
Nat Commun 3 (-) 1245 [2012-12-06; online 2012-12-06]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
Huang J, Sabater-Lleal M, Asselbergs FW, ..., O'Donnell CJ, Hamsten A
Blood 120 (24) 4873-4881 [2012-12-06; online 2012-09-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The impact of intronic single nucleotide polymorphisms and ethnic diversity for studies on the obesity gene FTO.
Jacobsson JA, Schiöth HB, Fredriksson R
Obes Rev 13 (12) 1096-1109 [2012-12-00; online 2012-08-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: no consistent evidence for an association in the Nordic population.
Saetre P, Grove J, Børglum AD, ..., Terenius L, Jönsson EG
Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (8) 981-986 [2012-12-00; online 2012-10-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR, Shah S, Nelson CP, ..., Kumari M, Day IN
Circ Cardiovasc Genet 5 (6) 630-638 [2012-12-00; online 2012-11-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk.
Gertow K, Sennblad B, Strawbridge RJ, ..., Humphries SE, Hamsten A
Circ Cardiovasc Genet 5 (6) 656-665 [2012-12-00; online 2012-11-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
Eyre S, Bowes J, Diogo D, ..., Gregersen PK, Worthington J
Nat. Genet. 44 (12) 1336-1340 [2012-12-00; online 2012-11-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genome sequence of Francisella tularensis subspecies holarctica strain FSC200, isolated from a child with tularemia.
Svensson K, Sjödin A, Byström M, ..., Larsson P, Johansson A
J. Bacteriol. 194 (24) 6965-6966 [2012-12-00; online 2012-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
Surakka I, Whitfield JB, Perola M, ..., Peltonen L, GenomEUtwin Project N
Twin Res Hum Genet 15 (6) 691-699 [2012-12-00; online 2012-10-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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The genomic landscape of species divergence in Ficedula flycatchers.
Ellegren H, Smeds L, Burri R, ..., Uebbing S, Wolf JB
Nature 491 (7426) 756-760 [2012-11-29; online 2012-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Strong signatures of selection in the domestic pig genome.
Rubin C, Megens H, Martinez Barrio A, ..., Groenen MAM, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 109 (48) 19529-19536 [2012-11-27; online 2012-11-16]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Sequence based analysis of U-2973, a cell line established from a double-hit B-cell lymphoma with concurrent MYC and BCL2 rearrangements.
Hooper SD, Jiao X, Sundström E, ..., Sjöblom T, Cavelier L
BMC Res Notes 5 (-) 648 [2012-11-22; online 2012-11-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Population-scale sequencing reveals genetic differentiation due to local adaptation in Atlantic herring.
Lamichhaney S, Martinez Barrio A, Rafati N, ..., Ryman N, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 109 (47) 19345-19350 [2012-11-20; online 2012-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Polymorphisms in peptidylarginine deiminase associate with rheumatoid arthritis in diverse Asian populations: evidence from MyEIRA study and meta-analysis.
Too CL, Murad S, Dhaliwal JS, ..., Klareskog L, Padyukov L
Arthritis Res. Ther. 14 (6) R250 [2012-11-19; online 2012-11-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Comprehensive analysis of the genome transcriptome and proteome landscapes of three tumor cell lines.
Akan P, Alexeyenko A, Costea PI, ..., Uhlén M, Lundeberg J
Genome Med 4 (11) 86 [2012-11-18; online 2012-11-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics
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Genetic variants and associations of 25-hydroxyvitamin D concentrations with major clinical outcomes.
Levin GP, Robinson-Cohen C, de Boer IH, ..., Siscovick D, Kestenbaum B
JAMA 308 (18) 1898-1905 [2012-11-14; online 2012-11-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Library preparation and multiplex capture for massive parallel sequencing applications made efficient and easy.
Neiman M, Sundling S, Grönberg H, ..., Lindberg J, Klevebring D
PLoS ONE 7 (11) e48616 [2012-11-05; online 2012-11-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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A 2nd generation linkage map of Heterobasidion annosum s.l. based on in silico anchoring of AFLP markers.
Lind M, van der Nest M, Olson Å, Brandström-Durling M, Stenlid J
PLoS ONE 7 (11) e48347 [2012-11-05; online 2012-11-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Sequencing of the needle transcriptome from Norway spruce (Picea abies Karst L.) reveals lower substitution rates, but similar selective constraints in gymnosperms and angiosperms.
Chen J, Uebbing S, Gyllenstrand N, ..., Lascoux M, Källman T
BMC Genomics 13 (-) 589 [2012-11-02; online 2012-11-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A comprehensive comparison of RNA-Seq-based transcriptome analysis from reads to differential gene expression and cross-comparison with microarrays: a case study in Saccharomyces cerevisiae.
Nookaew I, Papini M, Pornputtapong N, ..., Uhlén M, Nielsen J
Nucleic Acids Res. 40 (20) 10084-10097 [2012-11-01; online 2012-09-12]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Reclassification of the Candida haemulonii complex as Candida haemulonii (C. haemulonii group I), C. duobushaemulonii sp. nov. (C. haemulonii group II), and C. haemulonii var. vulnera var. nov.: three multiresistant human pathogenic yeasts.
Cendejas-Bueno E, Kolecka A, Alastruey-Izquierdo A, ..., Gómez-López A, Boekhout T
J. Clin. Microbiol. 50 (11) 3641-3651 [2012-11-00; online 2012-09-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Human cord blood derived immature basophils show dual characteristics, expressing both basophil and eosinophil associated proteins.
Grundström J, Reimer JM, Magnusson SE, ..., Wernersson S, Hellman L
PLoS ONE 7 (10) e48308 [2012-10-31; online 2012-10-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs.
Solnestam BW, Stranneheim H, Hällman J, ..., Lundeberg J, Akan P
BMC Genomics 13 (-) 574 [2012-10-30; online 2012-10-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics
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A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
Tariq M, Azhar A, Baig SM, Dahl N, Klar J
Sci Rep 2 (-) 730 [2012-10-12; online 2012-10-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Multiply-primed rolling circle amplification of human papillomavirus using sequence-specific primers.
Marincevic-Zuniga Y, Gustavsson I, Gyllensten U
Virology 432 (1) 57-62 [2012-10-10; online 2012-06-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Scheffersomyces stipitis: a comparative systems biology study with the Crabtree positive yeast Saccharomyces cerevisiae.
Papini M, Nookaew I, Uhlén M, Nielsen J
Microb. Cell Fact. 11 (-) 136 [2012-10-09; online 2012-10-09]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Multiplex epitope mapping using bacterial surface display reveals both linear and conformational epitopes.
Hudson EP, Uhlen M, Rockberg J
Sci Rep 2 (-) 706 [2012-10-04; online 2012-10-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
Lundin E, Wirgin I, Lukanova A, ..., Shore RE, Zeleniuch-Jacquotte A
Cancer Epidemiol 36 (5) 445-452 [2012-10-00; online 2012-05-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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MicroRNAs in Amoebozoa: deep sequencing of the small RNA population in the social amoeba Dictyostelium discoideum reveals developmentally regulated microRNAs.
Avesson L, Reimegård J, Wagner EGH, Söderbom F
RNA 18 (10) 1771-1782 [2012-10-00; online 2012-08-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Mapping QTL affecting a systemic sclerosis-like disorder in a cross between UCD-200 and red jungle fowl chickens.
Ek W, Sahlqvist AS, Crooks L, ..., Kämpe O, Kerje S
Dev. Comp. Immunol. 38 (2) 352-359 [2012-10-00; online 2012-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Lack of association between the regulator of G-protein signaling 4 (RGS4) rs951436 polymorphism and schizophrenia.
Jönsson EG, Saetre P, Nyholm H, ..., Agartz I, Terenius L
Psychiatr. Genet. 22 (5) 263-264 [2012-10-00; online 2011-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genetic variation in Puccinia graminis collected from oats, rye, and barberry.
Berlin A, Djurle A, Samils B, Yuen J
Phytopathology 102 (10) 1006-1012 [2012-10-00; online 2012-06-28]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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D-amino acid oxidase activator gene (DAOA) variation affects cerebrospinal fluid homovanillic acid concentrations in healthy Caucasians.
Andreou D, Saetre P, Werge T, ..., Terenius L, Jönsson EG
Eur Arch Psychiatry Clin Neurosci 262 (7) 549-556 [2012-10-00; online 2012-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Gene expression profiles in paired gingival biopsies from periodontitis-affected and healthy tissues revealed by massively parallel sequencing.
Davanian H, Stranneheim H, Båge T, ..., Lundeberg J, Yucel-Lindberg T
PLoS ONE 7 (9) e46440 [2012-09-28; online 2012-09-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression.
Greliche N, Zeller T, Wild PS, ..., Blankenberg S, Trégouët DA
PLoS ONE 7 (9) e45863 [2012-09-21; online 2012-09-21]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Catalytic convergence of manganese and iron lipoxygenases by replacement of a single amino acid.
Wennman A, Jernerén F, Hamberg M, Oliw EH
J. Biol. Chem. 287 (38) 31757-31765 [2012-09-14; online 2012-07-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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GCH1-polymorphism and pain sensitivity among women with provoked vestibulodynia.
Heddini U, Bohm-Starke N, Grönbladh A, ..., Nilsson KW, Johannesson U
Mol Pain 8 (-) 68 [2012-09-12; online 2012-09-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Identification of candidate SNPs for drug induced toxicity from differentially expressed genes in associated tissues.
Hasmats J, Kupershmidt I, Rodríguez-Antona C, ..., Lundeberg J, Green H
Gene 506 (1) 62-68 [2012-09-10; online 2012-07-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Improved gap size estimation for scaffolding algorithms.
Sahlin K, Street N, Lundeberg J, Arvestad L
Bioinformatics 28 (17) 2215-2222 [2012-09-01; online 2012-08-28]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Stepping stones in DNA sequencing.
Stranneheim H, Lundeberg J
Biotechnol J 7 (9) 1063-1073 [2012-09-00; online 2012-08-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Morris AP, Voight BF, Teslovich TM, ..., McCarthy MI, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 44 (9) 981-990 [2012-09-00; online 2012-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Scott RA, Lagou V, Welch RP, ..., Prokopenko I, Barroso I
Nat. Genet. 44 (9) 991-1005 [2012-09-00; online 2012-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.
Andersson LS, Larhammar M, Memic F, ..., Andersson L, Kullander K
Nature 488 (7413) 642-646 [2012-08-30; online 2012-08-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during domestication.
Johnsson M, Gustafson I, Rubin C, ..., Jensen P, Wright D
PLoS Genet. 8 (8) e1002914 [2012-08-30; online 2012-08-30]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Validation of whole genome amplification for analysis of the p53 tumor suppressor gene in limited amounts of tumor samples.
Hasmats J, Green H, Solnestam BW, ..., Bjursell M, Lundeberg J
Biochem. Biophys. Res. Commun. 425 (2) 379-383 [2012-08-24; online 2012-07-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays.
Smith AJ, Howard P, Shah S, ..., Talmud PJ, Humphries SE
PLoS Genet. 8 (8) e1002908 [2012-08-16; online 2012-08-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.
Wang C, Rose-Zerilli MJ, Koppelman GH, ..., Syvänen AC, Dideberg V
Gene 504 (2) 220-225 [2012-08-10; online 2012-05-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Unraveling assembly of stream biofilm communities.
Besemer K, Peter H, Logue JB, ..., Tranvik LJ, Battin TJ
ISME J 6 (8) 1459-1468 [2012-08-00; online 2012-01-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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QTL and quantitative genetic analysis of beak morphology reveals patterns of standing genetic variation in an Estrildid finch.
Knief U, Schielzeth H, Kempenaers B, Ellegren H, Forstmeier W
Mol. Ecol. 21 (15) 3704-3717 [2012-08-00; online 2012-06-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Polymorphisms in sh2b1 and spns1 loci are associated with triglyceride levels in a healthy population in northern Sweden.
Västermark Å, Jacobsson JA, Johansson Å, ..., Gyllensten U, Schiöth HB
J. Genet. 91 (2) 237-240 [2012-08-00; online 2012-09-04]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Long noncoding RNA-mediated maintenance of DNA methylation and transcriptional gene silencing.
Mohammad F, Pandey GK, Mondal T, ..., Gyllensten U, Kanduri C
Development 139 (15) 2792-2803 [2012-08-00; online 2012-06-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I, Dor T, Halvardson J, ..., Feuk L, Elpeleg O
Epilepsia 53 (8) 1436-1440 [2012-08-00; online 2012-06-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Impact of common variation in bone-related genes on type 2 diabetes and related traits.
Billings LK, Hsu YH, Ackerman RJ, ..., Kiel DP, Florez JC
Diabetes 61 (8) 2176-2186 [2012-08-00; online 2012-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Compensatory mutations in agrC partly restore fitness in vitro to peptide deformylase inhibitor-resistant Staphylococcus aureus.
Zorzet A, Andersen JM, Nilsson AI, Møller NF, Andersson DI
J. Antimicrob. Chemother. 67 (8) 1835-1842 [2012-08-00; online 2012-05-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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A-to-I editing of microRNAs in the mammalian brain increases during development.
Ekdahl Y, Farahani HS, Behm M, Lagergren J, Öhman M
Genome Res. 22 (8) 1477-1487 [2012-08-00; online 2012-05-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time.
Sabater-Lleal M, Martinez-Perez A, Buil A, ..., Hamsten A, Soria JM
Arterioscler. Thromb. Vasc. Biol. 32 (8) 2008-2016 [2012-08-00; online 2012-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Functional analysis of two PLA2G2A variants associated with secretory phospholipase A2-IIA levels.
Exeter HJ, Folkersen L, Palmen J, ..., Humphries SE, Talmud PJ
PLoS ONE 7 (7) e41139 [2012-07-17; online 2012-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Polymorphisms and variants in the prion protein sequence of European moose (Alces alces), reindeer (Rangifer tarandus), roe deer (Capreolus capreolus) and fallow deer (Dama dama) in Scandinavia.
Wik L, Mikko S, Klingeborn M, ..., Simonsson M, Linné T
Prion 6 (3) 256-260 [2012-07-01; online 2012-03-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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The role of obesity-related genetic loci in insulin sensitivity.
Fall T, Arnlöv J, Berne C, Ingelsson E
Diabet. Med. 29 (7) e62-e66 [2012-07-00; online 2012-03-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia.
Mansouri L, Gunnarsson R, Sutton LA, ..., Gyllensten U, Rosenquist R
Am. J. Hematol. 87 (7) 737-740 [2012-07-00; online 2012-06-03]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
Dahlqvist J, Westermark GT, Vahlquist A, Dahl N
Arch. Dermatol. Res. 304 (5) 377-386 [2012-07-00; online 2012-01-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Heterozygosity-fitness correlations in zebra finches: microsatellite markers can be better than their reputation.
Forstmeier W, Schielzeth H, Mueller JC, Ellegren H, Kempenaers B
Mol. Ecol. 21 (13) 3237-3249 [2012-07-00; online 2012-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Preferential genome targeting of the CBP co-activator by Rel and Smad proteins in early Drosophila melanogaster embryos.
Holmqvist P, Boija A, Philip P, ..., Stenberg P, Mannervik M
PLoS Genet. 8 (6) e1002769 [2012-06-21; online 2012-06-21]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.
Kiryluk K, Li Y, Sanna-Cherchi S, ..., Lifton RP, Gharavi AG
PLoS Genet. 8 (6) e1002765 [2012-06-21; online 2012-06-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Local contamination in relation to population genetic diversity and resilience of an arctic marine amphipod.
Bach L, Dahllöf I
Aquat. Toxicol. 114-115 (-) 58-66 [2012-06-15; online 2012-03-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors.
Edlund K, Larsson O, Ameur A, ..., Botling J, Soussi T
Proc. Natl. Acad. Sci. U.S.A. 109 (24) 9551-9556 [2012-06-12; online 2012-05-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility.
Imsland F, Feng C, Boije H, ..., Li N, Andersson L
PLoS Genet. 8 (6) e1002775 [2012-06-00; online 2012-06-28]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Selection-driven gene loss in bacteria.
Koskiniemi S, Sun S, Berg OG, Andersson DI
PLoS Genet. 8 (6) e1002787 [2012-06-00; online 2012-06-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Freshwater bacterioplankton richness in oligotrophic lakes depends on nutrient availability rather than on species-area relationships.
Logue JB, Langenheder S, Andersson AF, ..., Lanzén A, Lindström ES
ISME J 6 (6) 1127-1136 [2012-06-00; online 2011-12-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Digital gene expression profiling of primary acute lymphoblastic leukemia cells.
Nordlund J, Kiialainen A, Karlberg O, ..., Lönnerholm G, Syvänen AC
Leukemia 26 (6) 1218-1227 [2012-06-00; online 2011-12-16]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels.
Chernogubova E, Strawbridge R, Mahdessian H, ..., Hamsten A, van 't Hooft FM
Arterioscler. Thromb. Vasc. Biol. 32 (6) 1526-1534 [2012-06-00; online 2012-03-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples.
Bolstad AI, Le Hellard S, Kristjansdottir G, ..., Nordmark G, Jonsson R
Ann. Rheum. Dis. 71 (6) 981-988 [2012-06-00; online 2012-02-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.
Ostrowska Dahlgren B, Allen M, Lindström AC, Bjerke M, Blomström-Lundqvist C
J Interv Card Electrophysiol 34 (1) 11-18 [2012-06-00; online 2011-12-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Evidence for a negative association between schizophrenia and a polymorphism in the insulin receptor substrate-3 (IRS-3) gene.
Melkersson K, Persson B
Neuro Endocrinol. Lett. 33 (3) 321-330 [2012-05-29; online 2012-05-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children.
Rask-Andersen M, Jacobsson JA, Moschonis G, ..., Fredriksson R, Schiöth HB
BMC Med. Genet. 13 (-) 36 [2012-05-17; online 2012-05-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Association between a genetic variant in the serotonin transporter gene (SLC6A4) and suicidal behavior in patients with schizophrenia.
Lindholm Carlström E, Saetre P, Rosengren A, ..., Terenius L, Jönsson EG
Behav Brain Funct 8 (-) 24 [2012-05-17; online 2012-05-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
MAGI1 copy number variation in bipolar affective disorder and schizophrenia.
Karlsson R, Graae L, Lekman M, ..., Belin AC, Paddock S
Biol. Psychiatry 71 (10) 922-930 [2012-05-15; online 2012-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning AK, Hivert MF, Scott RA, ..., Meigs JB, Langenberg C
Nat. Genet. 44 (6) 659-669 [2012-05-13; online 2012-05-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Fox CS, Liu Y, White CC, ..., Cupples LA, Borecki IB
PLoS Genet. 8 (5) e1002695 [2012-05-10; online 2012-05-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Prediction of ischemic events on the basis of transcriptomic and genomic profiling in patients undergoing carotid endarterectomy.
Folkersen L, Persson J, Ekstrand J, ..., Hedin U, Paulsson-Berne G
Mol. Med. 18 (-) 669-675 [2012-05-09; online 2012-03-01]
Bioinformatics and Expression Analysis (BEA) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
Ameur A, Enroth S, Johansson A, ..., Campbell H, Gyllensten U
Am. J. Hum. Genet. 90 (5) 809-820 [2012-05-04; online 2012-04-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels.
Scott RA, Chu AY, Grarup N, ..., Wareham NJ, Langenberg C
Diabetes 61 (5) 1291-1296 [2012-05-00; online 2012-03-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.
Azhar A, Tariq M, Baig SM, Dahl N, Klar J
Eur J Dermatol 22 (4) 464-466 [2012-04-26; online 2012-04-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion.
Vinkhuyzen AA, Pedersen NL, Yang J, ..., Visscher PM, Wray NR
Transl Psychiatry 2 (-) e102 [2012-04-17; online 2012-04-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA methylation analysis of bone marrow cells at diagnosis of acute lymphoblastic leukemia and at remission.
Nordlund J, Milani L, Lundmark A, Lönnerholm G, Syvänen AC
PLoS ONE 7 (4) e34513 [2012-04-06; online 2012-04-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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The plastid redox insensitive 2 mutant of Arabidopsis is impaired in PEP activity and high light-dependent plastid redox signalling to the nucleus.
Kindgren P, Kremnev D, Blanco NE, ..., Small I, Strand A
Plant J. 70 (2) 279-291 [2012-04-00; online 2012-01-04]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Proteinase production in Pseudomonas fluorescens ON2 is affected by carbon sources and allows surface-attached but not planktonic cells to utilize protein for growth in lake water.
Nicolaisen MH, Worm J, Jørgensen NOG, Middelboe M, Nybroe O
FEMS Microbiol. Ecol. 80 (1) 168-178 [2012-04-00; online 2012-01-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Prevalence of Rickettsia spp., Anaplasma phagocytophilum, and Coxiella burnetii in adult Ixodes ricinus ticks from 29 study areas in central and southern Sweden.
Wallménius K, Pettersson JH, Jaenson TGT, Nilsson K
Ticks Tick Borne Dis 3 (2) 100-106 [2012-04-00; online 2012-01-09]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Mutational analysis of human glutathione transferase A2-2 identifies structural elements supporting high activity with the prodrug azathioprine.
Modén O, Zhang W, Mannervik B
Protein Eng. Des. Sel. 25 (4) 189-197 [2012-04-00; online 2012-02-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Mantle cell lymphoma displays a homogenous methylation profile: a comparative analysis with chronic lymphocytic leukemia.
Halldórsdóttir AM, Kanduri M, Marincevic M, ..., Ehrencrona H, Rosenquist R
Am. J. Hematol. 87 (4) 361-367 [2012-04-00; online 2012-03-01]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Can weed hosts increase aggressiveness of Phytophthora infestans on potato?
Grönberg L, Andersson B, Yuen J
Phytopathology 102 (4) 429-433 [2012-04-00; online 2011-12-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium , Swerdlow DI, Holmes MV, ..., Hingorani AD, Casas JP
Lancet 379 (9822) 1214-1224 [2012-03-31; online 2012-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies.
IL6R Genetics Consortium Emerging Risk Factors Collaboration , Sarwar N, Butterworth AS, ..., Harari O, Danesh J
Lancet 379 (9822) 1205-1213 [2012-03-31; online 2012-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Dastani Z, Hivert MF, Timpson N, ..., Rader DJ, Kathiresan S
PLoS Genet. 8 (3) e1002607 [2012-03-29; online 2012-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association and functional follow-up reveals new loci for kidney function.
Pattaro C, Köttgen A, Teumer A, ..., Kao WH, Fox CS
PLoS Genet. 8 (3) e1002584 [2012-03-29; online 2012-03-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Toward the single-hour high-quality genome.
Ståhl PL, Lundeberg J
Annu. Rev. Biochem. 81 (-) 359-378 [2012-03-20; online 2012-03-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The transcriptome of the adenovirus infected cell.
Zhao H, Dahlö M, Isaksson A, Syvänen AC, Pettersson U
Virology 424 (2) 115-128 [2012-03-15; online 2012-01-13]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.
Olszewski PK, Rozman J, Jacobsson JA, ..., Schiöth HB, Kilimann MW
PLoS Genet. 8 (3) e1002568 [2012-03-15; online 2012-03-15]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Antibiotic-induced change of bacterial communities associated with the copepod Nitocra spinipes.
Edlund A, Ek K, Breitholtz M, Gorokhova E
PLoS ONE 7 (3) e33107 [2012-03-12; online 2012-03-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Spiegel R, Pines O, Ta-Shma A, ..., Feuk L, Elpeleg O
Am. J. Hum. Genet. 90 (3) 518-523 [2012-03-09; online 2012-03-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
DOI Crossref
Ecosystem effects of materials proposed for thin‑layer capping of contaminated sediments
Näslund J, Samuelsson G, Gunnarsson J, ..., Cornelissen G, Schaanning M
Mar. Ecol. Prog. Ser. 449 (-) 27-40 [2012-03-08; online 2012-03-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Can silencing of transposons contribute to variation in effector gene expression in Phytophthora infestans?
Whisson S, Vetukuri R, Avrova A, Dixelius C
Mob Genet Elements 2 (2) 110-114 [2012-03-01; online 2012-08-31]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Signaling pathways involved in the regulation of TNFα-induced toll-like receptor 2 expression in human gingival fibroblasts.
Davanian H, Båge T, Lindberg J, ..., Sällberg Chen M, Yucel-Lindberg T
Cytokine 57 (3) 406-416 [2012-03-00; online 2012-01-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Phenotypic variation within a clonal lineage of Phytophthora infestans infecting both tomato and potato in Nicaragua.
Blandón-Díaz JU, Widmark A, Hannukkala A, ..., Högberg N, Yuen JE
Phytopathology 102 (3) 323-330 [2012-03-00; online 2011-11-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Novel amplifications in pediatric medulloblastoma identified by genome-wide copy number profiling.
Nord H, Pfeifer S, Nilsson P, ..., Nistér M, Díaz de Ståhl T
J. Neurooncol. 107 (1) 37-49 [2012-03-00; online 2011-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide and gene-based association implicates FRMD6 in alzheimer disease
Hong MG, Reynolds CA, Feldman AL, ..., Pedersen NL, Prince JA
Human Mutation 33 (3) 521-529 [2012-03-00; online 2012-01-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome wide analysis reveals association of a FTO gene variant with epigenetic changes.
Almén MS, Jacobsson JA, Moschonis G, ..., Fredriksson R, Schiöth HB
Genomics 99 (3) 132-137 [2012-03-00; online 2012-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Combined chromatin and expression analysis reveals specific regulatory mechanisms within cytokine genes in the macrophage early immune response.
Iglesias MJ, Jesus Iglesias M, Reilly SJ, ..., Hamsten A, Odeberg J
PLoS ONE 7 (2) e32306 [2012-02-27; online 2012-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A, van Duijn CM, Ugocsai P, ..., Schmitz G, EUROSPAN consortium
PLoS Genet. 8 (2) e1002490 [2012-02-16; online 2012-02-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Age-related somatic structural changes in the nuclear genome of human blood cells.
Forsberg LA, Rasi C, Razzaghian HR, ..., Absher D, Dumanski JP
Am. J. Hum. Genet. 90 (2) 217-228 [2012-02-10; online 2012-02-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Low diversity of the gut microbiota in infants with atopic eczema.
Abrahamsson TR, Jakobsson HE, Andersson AF, ..., Engstrand L, Jenmalm MC
J. Allergy Clin. Immunol. 129 (2) 434-40, 440.e1-2 [2012-02-00; online 2011-12-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Can balancing selection on MHC loci counteract genetic drift in small fragmented populations of black grouse?
Strand TM, Segelbacher G, Quintela M, ..., Axelsson T, Höglund J
Ecol Evol 2 (2) 341-353 [2012-02-00; online 2012-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats.
Rask-Andersen M, Jacobsson JA, Moschonis G, ..., Fredriksson R, Schiöth HB
Eur. J. Hum. Genet. 20 (2) 192-197 [2012-02-00; online 2011-09-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, ..., Rice GI, Crow YJ
Nat. Genet. 44 (3) 338-342 [2012-01-22; online 2012-01-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Stolk L, Perry JR, Chasman DI, ..., Visser JA, Lunetta KL
Nat. Genet. 44 (3) 260-268 [2012-01-22; online 2012-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
Nawaz S, Tariq M, Ahmad I, ..., Dahl N, Klar J
Eur J Dermatol 22 (2) 178-181 [2012-01-20; online 2012-01-20]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements.
Enroth S, Andersson CR, Andersson R, ..., Gustafsson MG, Komorowski J
Algorithms Mol Biol 7 (1) 2 [2012-01-16; online 2012-01-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene.
Davison LJ, Wallace C, Cooper JD, ..., Syvannen AC, Tennstedt S
Hum. Mol. Genet. 21 (2) 322-333 [2012-01-15; online 2011-10-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders.
Silberberg G, Lundin D, Navon R, Öhman M
Hum. Mol. Genet. 21 (2) 311-321 [2012-01-15; online 2011-10-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.
Castro FA, Ivansson EL, Schmitt M, ..., Gyllensten UB, Pawlita M
Int. J. Cancer 130 (2) 349-355 [2012-01-15; online 2011-03-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Structural genetic variation in the context of somatic mosaicism.
Dumanski JP, Piotrowski A
Methods Mol. Biol. 838 (-) 249-272 [2012-01-10; online 2012-01-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Differential expression patterns of conserved miRNAs and isomiRs during Atlantic halibut development.
Bizuayehu TT, Lanes CFC, Furmanek T, ..., Johansen SD, Babiak I
BMC Genomics 13 (-) 11 [2012-01-10; online 2012-01-10]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Combinations of histone modifications mark exon inclusion levels.
Enroth S, Bornelöv S, Wadelius C, Komorowski J
PLoS ONE 7 (1) e29911 [2012-01-05; online 2012-01-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide association search for type 2 diabetes genes in African Americans.
Palmer ND, McDonough CW, Hicks PJ, ..., Mooser V, Sladek R
PLoS ONE 7 (1) e29202 [2012-01-04; online 2012-01-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.
Dahlqvist J, Törmä H, Badhai J, Dahl N
PLoS ONE 7 (1) e29471 [2012-01-03; online 2012-01-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
Zaboli G, Ameur A, Igl W, ..., Gyllensten U, EUROSPAN Consortium
Eur. J. Hum. Genet. 20 (1) 77-83 [2012-01-00; online 2011-08-03]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
QTL linkage mapping of zebra finch beak color shows an oligogenic control of a sexually selected trait.
Schielzeth H, Kempenaers B, Ellegren H, Forstmeier W
Evolution 66 (1) 18-30 [2012-01-00; online 2011-09-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
QTL linkage mapping of wing length in zebra finch using genome-wide single nucleotide polymorphisms markers.
Schielzeth H, Forstmeier W, Kempenaers B, Ellegren H
Mol. Ecol. 21 (2) 329-339 [2012-01-00; online 2011-11-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Kynurenine 3-monooxygenase polymorphisms: relevance for kynurenic acid synthesis in patients with schizophrenia and healthy controls.
Holtze M, Saetre P, Engberg G, ..., Schalling M, Erhardt S
J Psychiatry Neurosci 37 (1) 53-57 [2012-01-00; online 2011-06-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High-throughput single-cell sequencing identifies photoheterotrophs and chemoautotrophs in freshwater bacterioplankton.
Martinez-Garcia M, Swan BK, Poulton NJ, ..., Sieracki ME, Stepanauskas R
ISME J 6 (1) 113-123 [2012-01-00; online 2011-07-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants near the MGAT1 gene are associated with body weight, BMI and fatty acid metabolism among adults and children.
Jacobsson JA, Rask-Andersen M, Risérus U, ..., Schiöth HB, Fredriksson R
Int J Obes (Lond) 36 (1) 119-129 [2012-01-00; online 2011-02-10]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Year 2011

PubMed DOI Crossref
A Complex Genomic Rearrangement Involving the Endothelin 3 Locus Causes Dermal Hyperpigmentation in the Chicken
Dorshorst B, Molin AM, Rubin CJ, ..., Ashwell C, Andersson L
PLoS Genet. 7 (12) e1002412 [2011-12-22; online 2011-12-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.
Huffman JE, Knezevic A, Vitart V, ..., Wright AF, Lauc G
Hum. Mol. Genet. 20 (24) 5000-5011 [2011-12-15; online 2011-09-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Identification of immunogenic proteins in Treponema phagedenis-like strain V1 from digital dermatitis lesions by phage display.
Rosander A, Guss B, Frykberg L, ..., Näslund K, Pringle M
Vet. Microbiol. 153 (3-4) 315-322 [2011-12-15; online 2011-07-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed
Association between body mass index and insulin receptor substrate-4 (IRS-4) gene polymorphisms in patients with schizophrenia.
Melkersson K, Persson B
Neuro Endocrinol. Lett. 32 (5) 634-640 [2011-12-15; online 2011-12-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The inner nuclear membrane proteins Man1 and Ima1 link to two different types of chromatin at the nuclear periphery in S. pombe.
Steglich B, Filion GJ, van Steensel B, Ekwall K
Nucleus 3 (1) 77-87 [2011-12-14; online 2011-12-14]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Blood pressure loci identified with a gene-centric array.
Johnson T, Gaunt TR, Newhouse SJ, ..., Caulfield MJ, Munroe PB
Am. J. Hum. Genet. 89 (6) 688-700 [2011-12-09; online 2011-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Cox DG, Simard J, Sinnett D, ..., Sinilnikova OM, Consortium of Investigators of Modifiers of BRCA1/2
Hum. Mol. Genet. 20 (23) 4732-4747 [2011-12-01; online 2011-09-06]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Salt-inducible kinase 1 influences Na(+),K(+)-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure.
Popov S, Silveira A, Wågsäter D, ..., Melander O, Bertorello AM
J. Hypertens. 29 (12) 2395-2403 [2011-12-00; online 2011-11-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Pathway-based analysis of genetic susceptibility to cervical cancer in situ: HLA-DPB1 affects risk in Swedish women.
Ivansson EL, Juko-Pecirep I, Erlich HA, Gyllensten UB
Genes Immun. 12 (8) 605-614 [2011-12-00; online 2011-07-01]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Next-generation sequencing technologies and applications for human genetic history and forensics.
Berglund EC, Kiialainen A, Syvänen AC
Investig Genet 2 (-) 23 [2011-11-24; online 2011-11-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Prognostic DNA methylation patterns in cytogenetically normal acute myeloid leukemia are predefined by stem cell chromatin marks.
Deneberg S, Guardiola P, Lennartsson A, ..., Döhner K, Lehmann S
Blood 118 (20) 5573-5582 [2011-11-17; online 2011-10-01]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome sequencing reveals a phage in Helicobacter pylori.
Lehours P, Vale FF, Bjursell MK, ..., Engstrand L, Andersson AF
MBio 2 (6) - [2011-11-15; online 2011-11-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Bown MJ, Jones GT, Harrison SC, ..., Deloukas P, Samani NJ
Am. J. Hum. Genet. 89 (5) 619-627 [2011-11-11; online 2011-11-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.
Ameur A, Zaghlool A, Halvardson J, ..., Cavelier L, Feuk L
Nat. Struct. Mol. Biol. 18 (12) 1435-1440 [2011-11-06; online 2011-11-06]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Abundant class of non-coding RNA regulates development in the social amoeba Dictyostelium discoideum.
Avesson L, Schumacher HT, Fechter P, ..., Hellman U, Söderbom F
RNA Biol 8 (6) 1094-1104 [2011-11-01; online 2011-09-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Targeted enrichment of genomic DNA regions for next-generation sequencing.
Mertes F, Elsharawy A, Sauer S, ..., Lehrach H, Brookes AJ
Brief Funct Genomics 10 (6) 374-386 [2011-11-00; online 2011-11-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers JC, Zhang W, Sehmi J, ..., Elliott P, Kooner JS
Nat. Genet. 43 (11) 1131-1138 [2011-10-16; online 2011-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Bjursell MK, Blom HJ, Cayuela JA, ..., Lundeberg J, Wedell A
Am. J. Hum. Genet. 89 (4) 507-515 [2011-10-07; online 2011-10-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
DOI Crossref
Tracking Phytophthora infestans with SSR markers within and between seasons - a field study in Sweden
Widmark AK, Andersson B, Sandström M, Yuen JE
Plant Pathol 60 (5) 938-945 [2011-10-00; online 2011-03-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke.
Tjärnlund-Wolf A, Olsson S, Jood K, Blomstrand C, Jern C
J. Neurol. 258 (10) 1885-1887 [2011-10-00; online 2011-04-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Strawbridge RJ, Dupuis J, Prokopenko I, ..., Hamsten A, Florez JC
Diabetes 60 (10) 2624-2634 [2011-10-00; online 2011-08-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in complement component C3 shows association with ischaemic stroke.
Olsson S, Stokowska A, Holmegaard L, ..., Pekna M, Jern C
Eur. J. Neurol. 18 (10) 1272-1274 [2011-10-00; online 2011-03-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Evidence for involvement of Dicer-like, Argonaute and histone deacetylase proteins in gene silencing in Phytophthora infestans.
Vetukuri RR, Avrova AO, Grenville-Briggs LJ, ..., Whisson SC, Dixelius C
Mol. Plant Pathol. 12 (8) 772-785 [2011-10-00; online 2011-07-06]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The Lin28/let-7 axis regulates glucose metabolism.
Zhu H, Shyh-Chang N, Segrè AV, ..., Altshuler D, Daley GQ
Cell 147 (1) 81-94 [2011-09-30; online 2011-10-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Wain LV, Verwoert GC, O'Reilly PF, ..., Elliott P, van Duijn CM
Nat. Genet. 43 (10) 1005-1011 [2011-09-11; online 2011-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Engineering GST M2-2 for high activity with indene 1,2-oxide and indication of an H-site residue sustaining catalytic promiscuity.
Norrgård MA, Mannervik B
J. Mol. Biol. 412 (1) 111-120 [2011-09-09; online 2011-08-09]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Variants in STAT5B associate with serum TC and LDL-C levels.
Kornfeld JW, Isaacs A, Vitart V, ..., Pramstaller PP, Hicks AA
J. Clin. Endocrinol. Metab. 96 (9) E1496-E1501 [2011-09-00; online 2011-07-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis.
Kanoni S, Nettleton JA, Hivert MF, ..., Franks PW, Dedoussis GV
Diabetes 60 (9) 2407-2416 [2011-09-00; online 2011-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
IBC 50K CAD Consortium N
PLoS Genet. 7 (9) e1002260 [2011-09-00; online 2011-09-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, ..., Giurgea I, Thuresson AC
Eur. J. Hum. Genet. 19 (9) 959-964 [2011-09-00; online 2011-04-28]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Dystrobrevin-binding protein 1 gene (DTNBP1) variants associated with cerebrospinal fluid homovanillic acid and 5-hydroxyindoleacetic acid concentrations in healthy volunteers.
Andreou D, Saetre P, Kähler AK, ..., Terenius L, Jönsson EG
Eur Neuropsychopharmacol 21 (9) 700-704 [2011-09-00; online 2011-02-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Combinations of SNPs related to signal transduction in bipolar disorder.
Koefoed P, Andreassen OA, Bennike B, ..., Werge T, Mellerup E
PLoS ONE 6 (8) e23812 [2011-08-29; online 2011-08-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Changes in the acetogenic population in a mesophilic anaerobic digester in response to increasing ammonia concentration.
Westerholm M, Müller B, Arthurson V, Schnürer A
Microbes Environ. 26 (4) 347-353 [2011-08-24; online 2011-08-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
Debette S, Visvikis-Siest S, Chen MH, ..., Vasan RS, Seshadri S
Circ. Res. 109 (5) 554-563 [2011-08-19; online 2011-07-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, ..., Hennekam RC, Lapunzina P
Am. J. Hum. Genet. 89 (2) 295-301 [2011-08-12; online 2011-08-02]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium N, Wellcome Trust Case Control Consortium 2 N, Sawcer S, ..., Donnelly P, Compston A
Nature 476 (7359) 214-219 [2011-08-10; online 2011-08-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The genetic structure of the Swedish population.
Humphreys K, Grankvist A, Leu M, ..., Palmgren J, Magnusson PK
PLoS ONE 6 (8) e22547 [2011-08-04; online 2011-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete genome sequence of Brachyspira intermedia reveals unique genomic features in Brachyspira species and phage-mediated horizontal gene transfer.
Håfström T, Jansson DS, Segerman B
BMC Genomics 12 (-) 395 [2011-08-04; online 2011-08-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The short non-coding transcriptome of the protozoan parasite Trypanosoma cruzi.
Franzén O, Arner E, Ferella M, ..., Andersson B, Daub CO
PLoS Negl Trop Dis 5 (8) e1283 [2011-08-00; online 2011-08-30]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Lack of association between two dopamine D2 receptor gene polymorphisms and schizophrenia.
Caprini S, Saetre P, Melle I, ..., Terenius L, Jönsson EG
Psychiatr. Genet. 21 (4) 214-215 [2011-08-00; online 2011-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Lack of association between genetic variations in the KALRN region and ischemic stroke.
Olsson S, Jood K, Melander O, ..., Lindgren A, Jern C
Clin. Biochem. 44 (12) 1018-1020 [2011-08-00; online 2011-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Hyphae-colonizing Burkholderia sp.--a new source of biological control agents against sheath blight disease (Rhizoctonia solani AG1-IA) in rice.
Cuong ND, Nicolaisen MH, Sørensen J, Olsson S
Microb. Ecol. 62 (2) 425-434 [2011-08-00; online 2011-03-03]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Gene-environment interactions between CRHR1 variants and physical assault in suicide attempts.
Ben-Efraim YJ, Wasserman D, Wasserman J, Sokolowski M
Genes Brain Behav. 10 (6) 663-672 [2011-08-00; online 2011-05-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
Juko-Pecirep I, Ivansson EL, Gyllensten UB
Gynecol. Oncol. 122 (2) 377-381 [2011-08-00; online 2011-05-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia.
Gunnarsson R, Mansouri L, Isaksson A, ..., Juliusson G, Rosenquist R
Haematologica 96 (8) 1161-1169 [2011-08-00; online 2011-05-07]
Array and Analysis Facility NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Antimicrobial susceptibility of Brachyspira spp. isolated from commercial laying hens and free-living wild mallards (Anas platyrhynchos).
Jansson DS, Pringle M
Avian Pathol. 40 (4) 387-393 [2011-08-00; online 2011-08-05]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Performance of ultra-deep pyrosequencing in analysis of HIV-1 pol gene variation.
Mild M, Hedskog C, Jernberg J, Albert J
PLoS ONE 6 (7) e22741 [2011-07-25; online 2011-07-25]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Structural alterations from multiple displacement amplification of a human genome revealed by mate-pair sequencing.
Jiao X, Rosenlund M, Hooper SD, ..., Mangion J, Sjöblom T
PLoS ONE 6 (7) e22250 [2011-07-22; online 2011-07-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Scalable transcriptome preparation for massive parallel sequencing.
Stranneheim H, Werne B, Sherwood E, Lundeberg J
PLoS ONE 6 (7) e21910 [2011-07-07; online 2011-07-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Identification of noncoding transcripts from within CENP-A chromatin at fission yeast centromeres.
Choi ES, Strålfors A, Castillo AG, ..., Ekwall K, Allshire RC
J. Biol. Chem. 286 (26) 23600-23607 [2011-07-01; online 2011-05-03]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Species sorting and neutral processes are both important during the initial assembly of bacterial communities.
Langenheder S, Székely AJ
ISME J 5 (7) 1086-1094 [2011-07-00; online 2011-01-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Replication and explorations of high-order epistasis using a large advanced intercross line pedigree.
Pettersson M, Besnier F, Siegel PB, Carlborg O
PLoS Genet. 7 (7) e1002180 [2011-07-00; online 2011-07-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndrome.
Appel S, Le Hellard S, Bruland O, ..., Wahren-Herlenius M, Jonsson R
Ann. Rheum. Dis. 70 (7) 1327-1329 [2011-07-00; online 2011-04-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic architecture of circulating lipid levels.
Demirkan A, Amin N, Isaacs A, ..., van Duijn CM, ENGAGE CONSORTIUM
Eur. J. Hum. Genet. 19 (7) 813-819 [2011-07-00; online 2011-03-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome wide association study identifies KCNMA1 contributing to human obesity.
Jiao H, Arner P, Hoffstedt J, ..., Clement K, Dahlman I
BMC Med Genomics 4 (-) 51 [2011-06-28; online 2011-06-28]
Bioinformatics and Expression Analysis (BEA) Mutation Analysis Facility (MAF) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen TO, Zillikens MC, Stančákova A, ..., Laakso M, Loos RJ
Nat. Genet. 43 (8) 753-760 [2011-06-26; online 2011-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Translational database selection and multiplexed sequence capture for up front filtering of reliable breast cancer biomarker candidates.
Ståhl PL, Bjursell MK, Mahdessian H, ..., Jirström K, Lundeberg J
PLoS ONE 6 (6) e20794 [2011-06-15; online 2011-06-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
KIT pathway alterations in mucosal melanomas of the vulva and other sites.
Omholt K, Grafström E, Kanter-Lewensohn L, Hansson J, Ragnarsson-Olding BK
Clin. Cancer Res. 17 (12) 3933-3942 [2011-06-15; online 2011-06-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The fat mass and obesity gene is linked to reduced verbal fluency in overweight and obese elderly men.
Benedict C, Jacobsson JA, Rönnemaa E, ..., Kilander L, Schiöth HB
Neurobiol. Aging 32 (6) 1159.e1-1159.e5 [2011-06-00; online 2011-04-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Tepidanaerobacter acetatoxydans sp. nov., an anaerobic, syntrophic acetate-oxidizing bacterium isolated from two ammonium-enriched mesophilic methanogenic processes.
Westerholm M, Roos S, Schnürer A
Syst. Appl. Microbiol. 34 (4) 260-266 [2011-06-00; online 2011-04-19]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic association and gene expression analysis identify FGFR1 as a new susceptibility gene for human obesity.
Jiao H, Arner P, Dickson SL, ..., Clement K, Dahlman I
J. Clin. Endocrinol. Metab. 96 (6) E962-E966 [2011-06-00; online 2011-03-25]
Bioinformatics and Expression Analysis (BEA) Mutation Analysis Facility (MAF) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Cytochrome P450 1A, 1B, and 1C mRNA induction patterns in three-spined stickleback exposed to a transient and a persistent inducer.
Gao K, Brandt I, Goldstone JV, Jönsson ME
Comp. Biochem. Physiol. C Toxicol. Pharmacol. 154 (1) 42-55 [2011-06-00; online 2011-03-01]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML
Am. J. Med. Genet. A 155A (6) 1217-1224 [2011-06-00; online 2011-05-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
(R,S)-dichlorprop herbicide in agricultural soil induces proliferation and expression of multiple dioxygenase-encoding genes in the indigenous microbial community.
Paulin MM, Nicolaisen MH, Sørensen J
Environ. Microbiol. 13 (6) 1513-1523 [2011-06-00; online 2011-03-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Detailed analysis of variants in FTO in association with body composition in a cohort of 70-year-olds suggests a weakened effect among elderly.
Jacobsson JA, Almén MS, Benedict C, ..., Lind L, Schiöth HB
PLoS ONE 6 (5) e20158 [2011-05-27; online 2011-05-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Sequence and generation of mature ribosomal RNA transcripts in Dictyostelium discoideum.
Boesler C, Kruse J, Söderbom F, Hammann C
J. Biol. Chem. 286 (20) 17693-17703 [2011-05-20; online 2011-04-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
Allanson JE, Annerén G, Aoki Y, ..., Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 157C (2) 129-135 [2011-05-15; online 2011-04-16]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Cys-X scanning for expansion of active-site residues and modulation of catalytic functions in a glutathione transferase.
Norrgård MA, Hellman U, Mannervik B
J. Biol. Chem. 286 (19) 16871-16878 [2011-05-13; online 2011-04-02]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Melanoma cells produce multiple laminin isoforms and strongly migrate on α5 laminin(s) via several integrin receptors.
Oikawa Y, Hansson J, Sasaki T, ..., Tryggvason K, Patarroyo M
Exp. Cell Res. 317 (8) 1119-1133 [2011-05-01; online 2011-01-05]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Lynch SA, Foulds N, Thuresson AC, ..., Ennis S, Sharkey F
Eur. J. Hum. Genet. 19 (5) 534-539 [2011-05-00; online 2011-01-27]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Directional genetic selection by pulp mill effluent on multiple natural populations of three-spined stickleback (Gasterosteus aculeatus).
Lind EE, Grahn M
Ecotoxicology 20 (3) 503-512 [2011-05-00; online 2011-04-02]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Nitrogenase gene amplicons from global marine surface waters are dominated by genes of non-cyanobacteria.
Farnelid H, Andersson AF, Bertilsson S, ..., Hagström Å, Riemann L
PLoS ONE 6 (4) e19223 [2011-04-29; online 2011-04-29]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Large scale library generation for high throughput sequencing.
Borgström E, Lundin S, Lundeberg J
PLoS ONE 6 (4) e19119 [2011-04-27; online 2011-04-27]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Clostridium botulinum group III: a group with dual identity shaped by plasmids, phages and mobile elements.
Skarin H, Håfström T, Westerberg J, Segerman B
BMC Genomics 12 (-) 185 [2011-04-12; online 2011-04-12]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: An association study
Holtze M, Saetre P, Erhardt S, ..., Jönsson EG, Schalling M
Schizophr. Res. 127 (1-3) 270-272 [2011-04-00; online 2011-04-00]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
Sandling JK, Garnier S, Sigurdsson S, ..., Rönnblom L, Syvänen AC
Eur. J. Hum. Genet. 19 (4) 479-484 [2011-04-00; online 2010-12-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.
Sobol M, Dahl N, Klar J
BMC Res Notes 4 (-) 90 [2011-03-30; online 2011-03-30]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Human oral, gut, and plaque microbiota in patients with atherosclerosis.
Koren O, Spor A, Felin J, ..., Ley RE, Bäckhed F
Proc. Natl. Acad. Sci. U.S.A. 108 Suppl 1 (-) 4592-4598 [2011-03-15; online 2010-10-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed
An assessment of CETP sequence variation in relation to cognitive decline and dementia risk.
Reynolds CA, Gatz M, Pedersen NL, Prince JA
Int J Mol Epidemiol Genet 2 (2) 122-129 [2011-03-10; online 2011-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Decoding a substantial set of samples in parallel by massive sequencing.
Neiman M, Lundin S, Savolainen P, Ahmadian A
PLoS ONE 6 (3) e17785 [2011-03-09; online 2011-03-09]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
Coronary Artery Disease (C4D) Genetics Consortium
Nat. Genet. 43 (4) 339-344 [2011-03-06; online 2011-03-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Bioinformatic tools for using whole genome sequencing as a rapid high resolution diagnostic typing tool when tracing bioterror organisms in the food and feed chain.
Segerman B, De Medici D, Ehling Schulz M, ..., Van Rotterdam B, Knutsson R
Int. J. Food Microbiol. 145 Suppl 1 (-) S167-S176 [2011-03-01; online 2010-09-10]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.
Ameur A, Stewart JB, Freyer C, ..., Larsson NG, Gyllensten U
PLoS Genet. 7 (3) e1002028 [2011-03-00; online 2011-03-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Speliotes EK, Yerges-Armstrong LM, Wu J, ..., Borecki IB, GOLD Consortium
PLoS Genet. 7 (3) e1001324 [2011-03-00; online 2011-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
CUBN is a gene locus for albuminuria.
Böger CA, Chen MH, Tin A, ..., Fox CS, Kao WH
J. Am. Soc. Nephrol. 22 (3) 555-570 [2011-03-00; online 2011-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
Nordmark G, Kristjansdottir G, Theander E, ..., Jonsson R, Syvänen AC
Genes Immun. 12 (2) 100-109 [2011-03-00; online 2010-09-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.
Olsson M, Meadows JRS, Truvé K, ..., Tintle L, Lindblad-Toh K
PLoS Genet. 7 (3) e1001332 [2011-03-00; online 2011-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Expression of 5,8-LDS of Aspergillus fumigatus and its dioxygenase domain. A comparison with 7,8-LDS, 10-dioxygenase, and cyclooxygenase.
Hoffmann I, Jernerén F, Garscha U, Oliw EH
Arch. Biochem. Biophys. 506 (2) 216-222 [2011-02-15; online 2010-12-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Identification of epigenetically regulated genes that predict patient outcome in neuroblastoma.
Carén H, Djos A, Nethander M, ..., Nilsson S, Martinsson T
BMC Cancer 11 (-) 66 [2011-02-11; online 2011-02-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.
Kiialainen A, Karlberg O, Ahlford A, ..., Lindblad-Toh K, Syvänen AC
PLoS ONE 6 (2) e16486 [2011-02-09; online 2011-02-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic association of sequence variants near AGER/NOTCH4 and dementia.
Bennet AM, Reynolds CA, Eriksson UK, ..., Pedersen NL, Prince JA
J. Alzheimers Dis. 24 (3) 475-484 [2011-02-08; online 2011-02-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The Swedish new variant of Chlamydia trachomatis.
Unemo M, Clarke IN
Curr. Opin. Infect. Dis. 24 (1) 62-69 [2011-02-00; online 2010-12-16]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Sun-induced nonsynonymous p53 mutations are extensively accumulated and tolerated in normal appearing human skin.
Ståhl PL, Stranneheim H, Asplund A, ..., Pontén F, Lundeberg J
J. Invest. Dermatol. 131 (2) 504-508 [2011-02-00; online 2010-10-15]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
High-resolution genomic screening in mantle cell lymphoma--specific changes correlate with genomic complexity, the proliferation signature and survival.
Halldórsdóttir AM, Sander B, Göransson H, ..., Rosenquist R, Ehrencrona H
Genes Chromosomes Cancer 50 (2) 113-121 [2011-02-00; online 2010-12-01]
Array and Analysis Facility NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation on chromosome 9p21 shows association with the ischaemic stroke subtype large-vessel disease in a Swedish sample aged ≤ 70.
Olsson S, Jood K, Blomstrand C, Jern C
Eur. J. Neurol. 18 (2) 365-367 [2011-02-00; online 2010-05-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors.
Cunningham JL, Díaz de Ståhl T, Sjöblom T, ..., Dumanski JP, Janson ET
Genes Chromosomes Cancer 50 (2) 82-94 [2011-02-00; online 2010-11-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Fine mapping and replication of QTL in outbred chicken advanced intercross lines.
Besnier F, Wahlberg P, Rönnegård L, ..., Siegel PB, Carlborg O
Genet. Sel. Evol. 43 (1) 3 [2011-01-17; online 2011-01-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
New CYP1 genes in the frog Xenopus (Silurana) tropicalis: induction patterns and effects of AHR agonists during development.
Jönsson ME, Berg C, Goldstone JV, Stegeman JJ
Toxicol. Appl. Pharmacol. 250 (2) 170-183 [2011-01-15; online 2010-10-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
A systems biology model of the regulatory network in Populus leaves reveals interacting regulators and conserved regulation.
Street NR, Jansson S, Hvidsten TR
BMC Plant Biol. 11 (-) 13 [2011-01-13; online 2011-01-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Targeted resequencing of candidate genes using selector probes.
Johansson H, Isaksson M, Sörqvist EF, ..., Ericsson O, Nilsson M
Nucleic Acids Res. 39 (2) e8 [2011-01-00; online 2010-11-08]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analysis of the association between variants in SORL1 and Alzheimer disease.
Reitz C, Cheng R, Rogaeva E, ..., Mayeux R, Genetic and Environmental Risk in Alzheimer Disease 1 Consortium
Arch. Neurol. 68 (1) 99-106 [2011-01-00; online 2011-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2010

PubMed DOI Crossref
Tryptophan hydroxylase gene 1 (TPH1) variants associated with cerebrospinal fluid 5-hydroxyindole acetic acid and homovanillic acid concentrations in healthy volunteers.
Andreou D, Saetre P, Werge T, ..., Terenius L, Jönsson EG
Psychiatry Res 180 (2-3) 63-67 [2010-12-30; online 2010-06-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Defining the transcriptome and proteome in three functionally different human cell lines.
Lundberg E, Fagerberg L, Klevebring D, ..., Mann M, Uhlen M
Mol. Syst. Biol. 6 (-) 450 [2010-12-21; online 2010-12-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure Spatial Proteomics
PubMed DOI Crossref
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.
Zambrano RM, Wohler E, Annerén G, ..., Cutting GR, Batista DA
Eur J Med Genet 54 (2) 189-193 [2010-12-07; online 2010-12-07]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Analysis of transcript and protein overlap in a human osteosarcoma cell line.
Klevebring D, Fagerberg L, Lundberg E, ..., Uhlén M, Lundeberg J
BMC Genomics 11 (-) 684 [2010-12-02; online 2010-12-02]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure Spatial Proteomics
PubMed DOI Crossref
Associations of gene sequence variation and serum levels of C-reactive protein and interleukin-6 with Alzheimer's disease and dementia.
Eriksson UK, Pedersen NL, Reynolds CA, ..., Dickman PW, Bennet AM
J. Alzheimers Dis. 23 (2) 361-369 [2010-12-01; online 2010-12-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Elks CE, Perry JR, Sulem P, ..., Ong KK, Murray A
Nat. Genet. 42 (12) 1077-1085 [2010-12-00; online 2010-11-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic architecture of domestication in the chicken: effects of pleiotropy and linkage.
Wright D, Rubin CJ, Martinez Barrio A, ..., Jensen P, Andersson L
Mol. Ecol. 19 (23) 5140-5156 [2010-12-00; online 2010-11-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance.
Edvardsen H, Brunsvig PF, Solvang H, ..., Aamdal S, Kristensen VN
Pharmacogenomics J. 10 (6) 513-523 [2010-12-00; online 2010-02-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.
Nettleton JA, McKeown NM, Kanoni S, ..., Franks PW, Meigs JB
Diabetes Care 33 (12) 2684-2691 [2010-12-00; online 2010-08-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
High frequency of p16(INK4A) promoter methylation in NRAS-mutated cutaneous melanoma.
Jonsson A, Tuominen R, Grafström E, Hansson J, Egyhazi S
J. Invest. Dermatol. 130 (12) 2809-2817 [2010-12-00; online 2010-08-13]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Distinct gene expression profiles in subsets of chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors.
Marincevic M, Mansouri M, Kanduri M, ..., Stamatopoulos K, Rosenquist R
Haematologica 95 (12) 2072-2079 [2010-12-00; online 2010-08-31]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Soranzo N, Sanna S, Wheeler E, ..., Barroso I, Meigs JB
Diabetes 59 (12) 3229-3239 [2010-12-00; online 2010-09-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A pyrosequencing study in twins shows that gastrointestinal microbial profiles vary with inflammatory bowel disease phenotypes.
Willing BP, Dicksved J, Halfvarson J, ..., Jansson JK, Engstrand L
Gastroenterology 139 (6) 1844-1854.e1 [2010-12-00; online 2010-09-08]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
A high-density scan of the Z chromosome in Ficedula flycatchers reveals candidate loci for diversifying selection.
Backström N, Lindell J, Zhang Y, ..., Saetre GP, Ellegren H
Evolution 64 (12) 3461-3475 [2010-12-00; online 2010-07-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SNP detection and prediction of variability between chicken lines using genome resequencing of DNA pools.
Marklund S, Carlborg O
BMC Genomics 11 (-) 665 [2010-11-25; online 2010-11-25]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Heid IM, Jackson AU, Randall JC, ..., Mohlke KL, Lindgren CM
Nat. Genet. 42 (11) 949-960 [2010-11-00; online 2010-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Meiofauna reduces bacterial mineralization of naphthalene in marine sediment.
Näslund J, Nascimento FJ, Gunnarsson JS
ISME J 4 (11) 1421-1430 [2010-11-00; online 2010-05-14]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project.
Tabara Y, Kohara K, Kita Y, ..., Ueshima H, Miki T
Hypertension 56 (5) 973-980 [2010-11-00; online 2010-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Ikram MK, Sim X, Xueling S, ..., Vingerling JR, Wong TY
PLoS Genet. 6 (10) e1001184 [2010-10-28; online 2010-10-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample.
Tesli M, Athanasiu L, Mattingsdal M, ..., Djurovic S, Andreassen OA
Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7) 1276-1282 [2010-10-05; online 2010-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
An exploratory model for G x E interaction on hippocampal volume in schizophrenia; obstetric complications and hypoxia-related genes.
Haukvik UK, Saetre P, McNeil T, ..., Jönsson EG, Agartz I
Prog. Neuropsychopharmacol. Biol. Psychiatry 34 (7) 1259-1265 [2010-10-01; online 2010-07-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation.
Razzaghian HR, Shahi MH, Forsberg LA, ..., Westerman MP, Dumanski JP
Am. J. Med. Genet. A 152A (10) 2595-2598 [2010-10-00; online 2010-08-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Lycosid spiders and alternative food: Feeding behavior and implications for biological control
Kuusk AK, Ekbom B
Biological Control 55 (1) 20-26 [2010-10-00; online 2010-10-00]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Brain gene expression in relation to fearfulness in female red junglefowl (Gallus gallus).
Jöngren M, Westander J, Nätt D, Jensen P
Genes Brain Behav. 9 (7) 751-758 [2010-10-00; online 2010-07-06]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
Heinig M, Petretto E, Wallace C, ..., Hubner N, Cook SA
Nature 467 (7314) 460-464 [2010-09-23; online 2010-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Pleiotropy in the presence of allelic heterogeneity: alternative genetic models for the influence of APOE on serum LDL, CSF amyloid-β42, and dementia.
Bennet AM, Reynolds CA, Gatz M, ..., Pedersen NL, Prince JA
J. Alzheimers Dis. 22 (1) 129-134 [2010-09-18; online 2010-09-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Trisomy and triploidy are sources of embryo mortality in the zebra finch.
Forstmeier W, Ellegren H
Proc. Biol. Sci. 277 (1694) 2655-2660 [2010-09-07; online 2010-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Production of ectomycorrhizal mycelium peaks during canopy closure in Norway spruce forests.
Wallander H, Johansson U, Sterkenburg E, Brandström Durling M, Lindahl BD
New Phytol. 187 (4) 1124-1134 [2010-09-00; online 2010-06-22]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Familial cutaneous melanoma.
Hansson J
Adv. Exp. Med. Biol. 685 (-) 134-145 [2010-08-07; online 2010-08-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Biological, clinical and population relevance of 95 loci for blood lipids.
Teslovich TM, Musunuru K, Smith AV, ..., Boehnke M, Kathiresan S
Nature 466 (7307) 707-713 [2010-08-05; online 2010-08-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus.
Hellström AR, Sundström E, Gunnarsson U, ..., Kerje S, Andersson L
Pigment Cell Melanoma Res 23 (4) 521-530 [2010-08-00; online 2010-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
No evidence for Z-chromosome rearrangements between the pied flycatcher and the collared flycatcher as judged by gene-based comparative genetic maps.
Backström N, Palkopoulou E, Qvarnström A, Ellegren H
Mol. Ecol. 19 (16) 3394-3405 [2010-08-00; online 2010-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels.
Uronen RL, Lundmark P, Orho-Melander M, ..., Syvänen AC, Ikonen E
Arterioscler. Thromb. Vasc. Biol. 30 (8) 1614-1620 [2010-08-00; online 2010-05-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
Gretarsdottir S, Baas AF, Thorleifsson G, ..., Thorsteinsdottir U, Stefansson K
Nat. Genet. 42 (8) 692-697 [2010-08-00; online 2010-07-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease.
Folkersen L, van't Hooft F, Chernogubova E, ..., Eriksson P, BiKE and ASAP study groups
Circ Cardiovasc Genet 3 (4) 365-373 [2010-08-00; online 2010-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.
Wetterbom A, Ameur A, Feuk L, Gyllensten U, Cavelier L
Genome Biol. 11 (7) R78 [2010-07-23; online 2010-07-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Induction patterns of new CYP1 genes in environmentally exposed rainbow trout.
Jönsson ME, Gao K, Olsson JA, Goldstone JV, Brandt I
Aquat. Toxicol. 98 (4) 311-321 [2010-07-15; online 2010-04-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Different SNP combinations in the GCH1 gene and use of labor analgesia.
Dabo F, Grönbladh A, Nyberg F, Sundström-Poromaa I, Akerud H
Mol Pain 6 (-) 41 [2010-07-15; online 2010-07-15]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Dynamics of HIV-1 quasispecies during antiviral treatment dissected using ultra-deep pyrosequencing.
Hedskog C, Mild M, Jernberg J, ..., Andersson B, Albert J
PLoS ONE 5 (7) e11345 [2010-07-07; online 2010-07-07]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Classification of DNA sequences using Bloom filters.
Stranneheim H, Käller M, Allander T, ..., Arvestad L, Lundeberg J
Bioinformatics 26 (13) 1595-1600 [2010-07-01; online 2010-05-18]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Revolutionizing membrane protein overexpression in bacteria.
Schlegel S, Klepsch M, Gialama D, ..., Slotboom DJ, de Gier JW
Microb Biotechnol 3 (4) 403-411 [2010-07-00; online 2009-09-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Characterization of the RNA content of chromatin.
Mondal T, Rasmussen M, Pandey GK, Isaksson A, Kanduri C
Genome Res. 20 (7) 899-907 [2010-07-00; online 2010-04-21]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
Wentzel C, Lynch SA, Stattin EL, ..., Annerén G, Thuresson AC
Mol Syndromol 1 (2) 75-81 [2010-06-09; online 2010-06-09]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic diversity and differentiation among Lagopus lagopus populations in Scandinavia and Scotland: evolutionary significant units confirmed by SNP markers.
Quintela M, Berlin S, Wang B, Höglund J
Mol. Ecol. 19 (12) 2380-2393 [2010-06-01; online 2010-07-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Multiplexed massively parallel SELEX for characterization of human transcription factor binding specificities.
Jolma A, Kivioja T, Toivonen J, ..., Ukkonen E, Taipale J
Genome Res. 20 (6) 861-873 [2010-06-00; online 2010-04-10]
Karolinska High Throughput Center (KHTC) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetics of HPA-axis, depression and suicidality.
Wasserman D, Wasserman J, Sokolowski M
Eur. Psychiatry 25 (5) 278-280 [2010-06-00; online 2010-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic analysis of metabolic traits in an intercross between body weight-selected chicken lines.
Ek W, Strömstedt L, Wahlberg P, ..., Andersson L, Carlborg O
Physiol. Genomics 42 (1) 20-22 [2010-06-00; online 2010-03-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A variant near the interleukin-6 gene is associated with fat mass in Caucasian men.
Andersson N, Strandberg L, Nilsson S, ..., Jansson JO, Osteoporotic Fractures in Men MrOS Research Group
Int J Obes (Lond) 34 (6) 1011-1019 [2010-06-00; online 2010-02-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
Reynolds CA, Hong MG, Eriksson UK, ..., Pedersen NL, Prince JA
Hum. Mol. Genet. 19 (10) 2068-2078 [2010-05-15; online 2010-02-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
Vuong MT, Gunnarsson I, Lundberg S, ..., Jacobson SH, Padyukov L
PLoS ONE 5 (5) e10559 [2010-05-10; online 2010-05-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort.
Hellquist A, Sandling JK, Zucchelli M, ..., Syvänen AC, Kere J
Ann. Rheum. Dis. 69 (5) 883-886 [2010-05-00; online 2009-09-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.
Ingelsson E, Langenberg C, Hivert MF, ..., Florez JC, MAGIC investigators
Diabetes 59 (5) 1266-1275 [2010-05-00; online 2010-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Abundance and expression of enantioselective rdpA and sdpA dioxygenase genes during degradation of the racemic herbicide (R,S)-2-(2,4-dichlorophenoxy)propionate in soil.
Paulin MM, Nicolaisen MH, Sørensen J
Appl. Environ. Microbiol. 76 (9) 2873-2883 [2010-05-00; online 2010-03-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus.
Svenungsson E, Gustafsson J, Leonard D, ..., Syvänen AC, Rönnblom L
Ann. Rheum. Dis. 69 (5) 834-840 [2010-05-00; online 2009-09-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Increased throughput by parallelization of library preparation for massive sequencing.
Lundin S, Stranneheim H, Pettersson E, Klevebring D, Lundeberg J
PLoS ONE 5 (4) e10029 [2010-04-06; online 2010-04-06]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The recombination landscape of the zebra finch Taeniopygia guttata genome.
Backström N, Forstmeier W, Schielzeth H, ..., Kempenaers B, Ellegren H
Genome Res. 20 (4) 485-495 [2010-04-00; online 2010-03-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Reaction mechanism of 5,8-linoleate diol synthase, 10R-dioxygenase, and 8,11-hydroperoxide isomerase of Aspergillus clavatus.
Jernerén F, Garscha U, Hoffmann I, Hamberg M, Oliw EH
Biochim. Biophys. Acta 1801 (4) 503-507 [2010-04-00; online 2010-01-05]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution.
Völker M, Backström N, Skinner BM, ..., Ellegren H, Griffin DK
Genome Res. 20 (4) 503-511 [2010-04-00; online 2010-03-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
Smith NL, Chen MH, Dehghan A, ..., Tang W, O'Donnell CJ
Circulation 121 (12) 1382-1392 [2010-03-30; online 2010-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Whole-genome resequencing reveals loci under selection during chicken domestication.
Rubin C, Zody MC, Eriksson J, ..., Lindblad-Toh K, Andersson L
Nature 464 (7288) 587-591 [2010-03-25; online 2010-03-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
In-depth transcriptome analysis reveals novel TARs and prevalent antisense transcription in human cell lines.
Klevebring D, Bjursell M, Emanuelsson O, Lundeberg J
PLoS ONE 5 (3) e9762 [2010-03-25; online 2010-03-25]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Short-term antibiotic treatment has differing long-term impacts on the human throat and gut microbiome.
Jakobsson HE, Jernberg C, Andersson AF, ..., Jansson JK, Engstrand L
PLoS ONE 5 (3) e9836 [2010-03-24; online 2010-03-24]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
Nyström AM, Ekvall S, Thuresson AC, ..., Annerén G, Bondeson ML
Eur J Med Genet 53 (3) 117-121 [2010-03-17; online 2010-03-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Global and unbiased detection of splice junctions from RNA-seq data.
Ameur A, Wetterbom A, Feuk L, Gyllensten U
Genome Biol. 11 (3) R34 [2010-03-17; online 2010-03-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis.
Saetre P, Lundmark P, Wang A, ..., Terenius L, Jönsson EG
Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (2) 387-396 [2010-03-05; online 2009-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia.
Vares M, Saetre P, Deng H, ..., Terenius L, Jönsson EG
Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (2) 610-618 [2010-03-05; online 2009-09-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Comparative genomics based on massive parallel transcriptome sequencing reveals patterns of substitution and selection across 10 bird species.
Künstner A, Wolf JB, Backström N, ..., Warren WC, Ellegren H
Mol. Ecol. 19 Suppl 1 (Suppl 1) 266-276 [2010-03-00; online 2010-04-02]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Gene-specific FACS sorting method for target selection in high-throughput amplicon sequencing.
Sandberg J, Neiman M, Ahmadian A, Lundeberg J
BMC Genomics 11 (-) 140 [2010-02-26; online 2010-02-26]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
High-density linkage mapping and evolution of paralogs and orthologs in Salix and Populus.
Berlin S, Lagercrantz U, von Arnold S, Ost T, Rönnberg-Wästljung AC
BMC Genomics 11 (-) 129 [2010-02-23; online 2010-02-23]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study.
Hallström H, Melhus H, Glynn A, ..., Syvänen AC, Michaëlsson K
Nutr Metab (Lond) 7 (-) 12 [2010-02-22; online 2010-02-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia.
Milani L, Lundmark A, Kiialainen A, ..., Lönnerholm G, Syvänen AC
Blood 115 (6) 1214-1225 [2010-02-11; online 2009-11-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SUMOylation mediates the nuclear translocation and signaling of the IGF-1 receptor.
Sehat B, Tofigh A, Lin Y, ..., Lagergren J, Larsson O
Sci Signal 3 (108) ra10 [2010-02-09; online 2010-02-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Sequence variation in SORL1 and dementia risk in Swedes.
Reynolds CA, Hong MG, Eriksson UK, ..., Bennet AM, Prince JA
Neurogenetics 11 (1) 139-142 [2010-02-00; online 2009-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Dupuis J, Langenberg C, Prokopenko I, ..., Florez JC, Barroso I
Nat. Genet. 42 (2) 105-116 [2010-02-00; online 2010-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Saxena R, Hivert MF, Langenberg C, ..., Wareham NJ, Watanabe RM
Nat. Genet. 42 (2) 142-148 [2010-02-00; online 2010-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
Feng D, Stone RC, Eloranta ML, ..., Rönnblom L, Barnes BJ
Arthritis Rheum. 62 (2) 562-573 [2010-02-00; online 2010-01-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations.
Jovanovic B, Egyhazi S, Eskandarpour M, ..., Hayward NK, Hansson J
J. Invest. Dermatol. 130 (2) 618-620 [2010-02-00; online 2009-09-18]
NGI Short read [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential genome-wide array-based methylation profiles in prognostic subsets of chronic lymphocytic leukemia.
Kanduri M, Cahill N, Göransson H, ..., Isaksson A, Rosenquist R
Blood 115 (2) 296-305 [2010-01-14; online 2009-11-10]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples.
Kähler AK, Otnaess MK, Wirgenes KV, ..., Andreassen OA, Djurovic S
Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (1) 86-96 [2010-01-05; online 2009-04-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A computational screen for site selective A-to-I editing detects novel sites in neuron specific Hu proteins.
Ensterö M, Akerborg O, Lundin D, ..., Ohman M, Lagergren J
BMC Bioinformatics 11 (-) 6 [2010-01-04; online 2010-01-04]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
The 2009 Nobel conference on the role of genetics in promoting suicide prevention and the mental health of the population.
Wasserman D, Terenius L, Wasserman J, Sokolowski M
Mol. Psychiatry 15 (1) 12-17 [2010-01-00; online 2009-12-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of polymorphisms in the SLIT2 axonal guidance gene with anger in suicide attempters.
Sokolowski M, Wasserman J, Wasserman D
Mol. Psychiatry 15 (1) 10-11 [2010-01-00; online 2009-12-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
SciLifeLab Data Centre
Publications 9.5.1