NGI Uppsala (SNP&SEQ Technology Platform)

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SciLifeLab Infrastructure Unit 2013–2019.

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

Started: 2013

Ended: 2019

Year 2025

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
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
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]

Year 2024

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 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
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
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A
Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic and functional characterization of the Atlantic salmon gut microbiome in relation to nutrition and health.
Vera-Ponce de León A, Hensen T, Hoetzinger M, ..., Pope PB, La Rosa SL
Nat Microbiol 9 (11) 3059-3074 [2024-11-00; online 2024-10-14]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)
Östlund A, Waraky A, Staffas A, ..., Abrahamsson J, Palmqvist L
Genes Chromosomes Cancer 63 (11) - [2024-11-00; online 2024-11-07]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth.
Ghantous A, Nusslé SG, Nassar FJ, ..., Munthe-Kaas MC, Herceg Z
Mol. Cancer 23 (1) 238 [2024-10-23; online 2024-10-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High rate of gene family evolution in proximity to the origin of ectomycorrhizal symbiosis in Inocybaceae.
Khan FK, Sánchez-García M, Johannesson H, Ryberg M
New Phytol. 244 (1) 219-234 [2024-10-00; online 2024-08-07]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative proteomic analyses of potato leaves from field-grown plants grown under extremely long days.
Resjö S, Willforss J, Large A, ..., Levander F, Andreasson E
Plant Physiol Biochem 215 (-) 109032 [2024-10-00; online 2024-08-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Associations between epigenetic aging and diabetes mellitus in a Swedish longitudinal study.
Wikström Shemer D, Mostafaei S, Tang B, ..., Fall T, Hägg S
Geroscience 46 (5) 5003-5014 [2024-10-00; online 2024-06-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
"Metagenomics reveal the potential for geosmin and 2-methylisoborneol production across multiple bacterial phyla in recirculating aquaculture systems".
Zheng D, Wilén BM, Öberg O, Wik T, Modin O
Environ. Microbiol. 26 (10) e16696 [2024-10-00; online 2024-10-09]
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 European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Mc Cartney AM, Formenti G, Mouton A, ..., Waterhouse RM, Mazzoni CJ
NPJ Biodivers 3 (1) 28 [2024-09-17; online 2024-09-17]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic differentiation and diversity do not explain variation in heterosis or inbreeding depression: empirical evidence from a long-lived iteroparous plant
Söderquist L, Karrenberg S, Sletvold N
Conserv Genet - (-) - [2024-09-17; online 2024-09-17]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.
Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, with the DISSECT consortium and the ImmunoArray consortium
Arthritis & rheumatology (Hoboken, N.J.) - (-) - [2024-09-16; online 2024-09-16]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic loss of Y chromosome and the association to mortality in Danish men aged 56-100 years.
Hozakowska-Roszkowska DM, Mengel-From J, Hristozova TK, ..., Röttger R, Nygaard M
Mech Ageing Dev 222 (-) 111979 [2024-09-16; online 2024-09-16]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Enrichment of Cis-Acting Regulatory Elements in Differentially Methylated Regions Following Lipopolysaccharide Treatment of Bovine Endometrial Epithelial Cells.
Jhamat N, Guo Y, Han J, ..., Andersson G, Niazi A
Int J Mol Sci 25 (18) - [2024-09-11; online 2024-09-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of Lamin A leads to the nuclear translocation of AGO2 and compromised RNA interference.
Lobo V, Nowak I, Fernandez C, ..., Angeletti D, Sarshad AA
Nucleic Acids Res. 52 (16) 9917-9935 [2024-09-09; online 2024-07-12]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Male-biased recombination at chromosome ends in a songbird revealed by precisely mapping crossover positions.
Zhang H, Lundberg M, Ponnikas S, Hasselquist D, Hansson B
G3 (Bethesda) 14 (9) - [2024-09-04; online 2024-07-10]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Zhou W, Ås J, Shore-Lorenti C, ..., Ebeling PR, Zillikens MC
J. Bone Miner. Res. 39 (9) 1315-1326 [2024-09-02; online 2024-08-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic and functional analyses on a Botrytis cinerea multidrug-resistant (MDR) strain provides new insights into the potential molecular mechanisms of MDR and fitness.
Sofianos G, Piombo E, Dubey M, ..., Karaoglanidis G, Tzelepis G
Mol. Plant Pathol. 25 (9) e70004 [2024-09-00; online 2024-09-08]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Species-genetic diversity correlation in a metacommunity of urban pond invertebrates
Johansson F, Yildirim Y, Hyseni C, ..., Höglund J, Bini LM
Basic and Applied Ecology 79 (-) 114-122 [2024-09-00; online 2024-09-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.
Rubin CJ, Hodge M, Naboulsi R, ..., Lindgren G, Andersson L
Nat Commun 15 (1) 7510 [2024-08-29; online 2024-08-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polygenic Risk Scores and Twin Concordance for Schizophrenia and Bipolar Disorder.
Song J, Pasman JA, Johansson V, ..., Hultman CM, Sullivan PF
JAMA Psychiatry - (-) - [2024-08-28; online 2024-08-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups.
Breton G, Barham L, Mudenda G, ..., Schlebusch CM, Jakobsson M
Nat Commun 15 (1) 7307 [2024-08-24; online 2024-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Massively parallel analysis of single-molecule dynamics on next-generation sequencing chips.
Aguirre Rivera J, Mao G, Sabantsev A, ..., Jinek M, Deindl S
Science 385 (6711) 892-898 [2024-08-23; online 2024-08-22]
NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
CDK8 of the mediator kinase module connects leaf development to the establishment of correct stomata patterning by regulating the levels of the transcription factor SPEECHLESS (SPCH).
Hermida-Carrera C, Vergara A, Cervela-Cardona L, ..., Björklund S, Strand Å
Plant Cell Environ. - (-) - [2024-08-23; online 2024-08-23]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
FOXO-regulated OSER1 reduces oxidative stress and extends lifespan in multiple species.
Song J, Li Z, Zhou L, ..., Rasmussen LJ, Dai F
Nat Commun 15 (1) 7144 [2024-08-21; online 2024-08-21]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Decrease due to pollution in the rhizosphere microbial diversity can be amended by supplementation from adapted plants of another species.
Fetsiukh A, Pall T, Timmusk S
Sci Rep 14 (1) 18806 [2024-08-13; online 2024-08-13]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Why we thrive beneath a northern sky - genomic signals of selection in apple for adaptation to northern Sweden.
Skytte Af Sätra J, Garkava-Gustavsson L, Ingvarsson PK
Heredity (Edinb) 133 (2) 67-77 [2024-08-00; online 2024-06-04]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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 multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.
Lysenkova Wiklander M, Arvidsson G, Bunikis I, ..., Ameur A, Nordlund J
Life Sci. Alliance 7 (8) - [2024-08-00; online 2024-05-22]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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]
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 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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Completed genome and emergence scenario of the multidrug-resistant nosocomial pathogen Staphylococcus epidermidis ST215.
Kellgren T, Dwibedi C, Widerström M, ..., Rydén P, Johansson A
BMC Microbiol. 24 (1) 215 [2024-06-19; online 2024-06-19]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Affinity Proteomics Uppsala [Service] NGI Proteomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Glycoproteomics and MS Proteomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Ancient DNA [Service] Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics (NBIS) [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics (NBIS) [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Unlocking the secret life of blue mussels: Exploring connectivity in the Skagerrak through biophysical modeling and population genomics.
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Year 2023

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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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Evidence of Site-Specific and Male-Biased Germline Mutation Rate in a Wild Songbird.
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Genome Biol Evol 15 (11) - [2023-11-01; online 2023-10-04]
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Smoking affects epigenetic ageing of lung bronchoalveolar lavage cells in Multiple Sclerosis.
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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Nutrient availability and grazing influence the strength of priority effects during freshwater bacterial community coalescence.
Lumpi T, Guo X, Lindström ES
Environ. Microbiol. 25 (11) 2289-2302 [2023-11-00; online 2023-06-28]
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Proteomics reveal biomarkers for diagnosis, disease activity and long-term disability outcomes in multiple sclerosis.
Åkesson J, Hojjati S, Hellberg S, ..., Ernerudh J, Gustafsson M
Nat Commun 14 (1) 6903 [2023-10-30; online 2023-10-30]
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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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Screening for atypical porcine pestivirus in Swedish boar semen used for artificial insemination and a characterisation of the seminal RNA microbiome including the virome.
Stenberg H, Malmberg M, Hayer J
BMC Vet Res 19 (1) 219 [2023-10-20; online 2023-10-20]
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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).
Hill J, Enbody ED, Bi H, ..., Widemo F, Andersson L
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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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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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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
Nat. Genet. 55 (6) 973-983 [2023-06-00; online 2023-06-08]
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The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T, Shamikh A, Mayrhofer M, ..., Sandgren J, Nistér M
J Transl Med 21 (1) 342 [2023-05-23; online 2023-05-23]
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PubMed DOI Crossref
SAG-RAD: A Method for Single-Cell Population Genomics of Unicellular Eukaryotes.
Gollnisch R, Wallenius J, Gribble KE, Ahrén D, Rengefors K
Mol. Biol. Evol. 40 (5) - [2023-05-02; online 2023-04-20]
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Comparative assessment of the bacterial communities associated with Anopheles darlingi immature stages and their breeding sites in the Brazilian Amazon.
Mosquera KD, Nilsson LKJ, de Oliveira MR, ..., de Souza AQL, Terenius O
Parasit Vectors 16 (1) 156 [2023-05-01; online 2023-05-01]
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Trophozoite fitness dictates the intestinal epithelial cell response to Giardia intestinalis infection.
Grüttner J, van Rijn JM, Geiser P, ..., Sellin ME, Svärd SG
PLoS Pathog. 19 (5) e1011372 [2023-05-00; online 2023-05-04]
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​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs.
Moon KL, Huson HJ, Morrill K, ..., Karlsson EK, Shapiro B
Science 380 (6643) eabn5887 [2023-04-28; online 2023-04-28]
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Three-dimensional genome rewiring in loci with human accelerated regions.
Keough KC, Whalen S, Inoue F, ..., Pollen A, Pollard KS
Science 380 (6643) eabm1696 [2023-04-28; online 2023-04-28]
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The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, ..., Sabeti PC, Reilly SK
Science 380 (6643) eabn2253 [2023-04-28; online 2023-04-28]
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The contribution of historical processes to contemporary extinction risk in placental mammals.
Wilder AP, Supple MA, Subramanian A, ..., Ryder OA, Shapiro B
Science 380 (6643) eabn5856 [2023-04-28; online 2023-04-28]
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Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, ..., Meyer WK, Pfenning AR
Science 380 (6643) eabm7993 [2023-04-28; online 2023-04-28]
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Mammalian evolution of human cis-regulatory elements and transcription factor binding sites.
Andrews G, Fan K, Pratt HE, ..., Moore JE, Weng Z
Science 380 (6643) eabn7930 [2023-04-28; online 2023-04-28]
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Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, ..., Karlsson EK, Lindblad-Toh K
Science 380 (6643) eabn2937 [2023-04-28; online 2023-04-28]
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PubMed DOI Crossref
Integrating gene annotation with orthology inference at scale.
Kirilenko BM, Munegowda C, Osipova E, ..., Zoonomia Consortium‡ , Hiller M
Science 380 (6643) eabn3107 [2023-04-28; online 2023-04-28]
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PubMed DOI Crossref
Insights into mammalian TE diversity through the curation of 248 genome assemblies.
Osmanski AB, Paulat NS, Korstian J, ..., Lindblad-Toh K, Ray DA
Science 380 (6643) eabn1430 [2023-04-28; online 2023-04-28]
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PubMed DOI Crossref
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas MJ, Kaplow IM, Genereux DP, ..., Lindblad-Toh K, Karlsson EK
Science 380 (6643) eabn3943 [2023-04-28; online 2023-04-28]
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 genomic timescale for placental mammal evolution.
Foley NM, Mason VC, Harris AJ, ..., Springer MS, Murphy WJ
Science 380 (6643) eabl8189 [2023-04-28; online 2023-04-28]
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PubMed DOI Crossref
Prominent epigenetic and transcriptomic changes in CD4+ and CD8+ T cells during and after pregnancy in women with multiple sclerosis and controls.
Zenere A, Hellberg S, Papapavlou Lingehed G, ..., Gustafsson M, Ernerudh J
J Neuroinflammation 20 (1) 98 [2023-04-27; online 2023-04-27]
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PubMed DOI Crossref
Low-grade glioma risk SNP rs11706832 is associated with type I interferon response pathway genes in cell lines.
Rosenbaum A, Dahlin AM, Andersson U, ..., Wibom C, Melin B
Sci Rep 13 (1) 6777 [2023-04-25; online 2023-04-25]
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Longitudinal associations between use of antihypertensive, antidiabetic, and lipid-lowering medications and biological aging.
Tang B, Li X, Wang Y, ..., Pedersen NL, Hägg S
Geroscience - (-) - [2023-04-10; online 2023-04-10]
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PubMed DOI Crossref
Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study.
Maitusong B, Laguzzi F, Strawbridge RJ, ..., Leander K, IMPROVE Study group†
Circ Genom Precis Med - (-) e003710 [2023-04-06; online 2023-04-06]
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PubMed DOI Crossref
Red clover root-associated microbiota is shaped by geographic location and choice of farming system.
Jambagi S, Hodén KP, Öhlund L, Dixelius C
J Appl Microbiol 134 (4) - [2023-04-03; online 2023-04-04]
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Whole-genome re-sequencing provides key genomic insights in farmed Arctic charr (Salvelinus alpinus) populations of anadromous and landlocked origin from Scandinavia.
Pappas F, Kurta K, Vanhala T, ..., Beirão J, Palaiokostas C
Evol Appl 16 (4) 797-813 [2023-04-00; online 2023-02-27]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetically and environmentally predicted obesity in relation to cardiovascular disease: a nationwide cohort study.
Ojalehto E, Zhan Y, Jylhävä J, ..., Dahl Aslan AK, Karlsson IK
EClinicalMedicine 58 (-) 101943 [2023-04-00; online 2023-04-06]
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From high masked to high realized genetic load in inbred Scandinavian wolves.
Smeds L, Ellegren H
Mol. Ecol. 32 (7) 1567-1580 [2023-04-00; online 2022-12-13]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenetic changes in the CYP2D6 gene are related to severity of suicide attempt: A cross-sectional study of suicide attempters.
Boström AED, Jamshidi E, Manu DM, ..., Åsberg M, Jokinen J
J Psychiatr Res 160 (-) 217-224 [2023-04-00; online 2023-02-24]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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
Cancers (Basel) 15 (7) - [2023-03-25; online 2023-03-25]
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PubMed DOI Crossref
Enhanced glycerol assimilation and lipid production in Rhodotorula toruloides CBS14 upon addition of hemicellulose primarily correlates with early transcription of energy-metabolism-related genes.
Martín-Hernández GC, Chmielarz M, Müller B, ..., Hölzer M, Passoth V
Biotechnol Biofuels Bioprod 16 (1) 42 [2023-03-10; online 2023-03-10]
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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.
Rifkin RF, Vikram S, Alcorta J, ..., Schlebusch CM, Lombard M
Commun Biol 6 (1) 240 [2023-03-03; online 2023-03-03]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Mathieson I, Day FR, Barban N, ..., Mills MC, Perry JRB
Nat Hum Behav - (-) - [2023-03-02; online 2023-03-02]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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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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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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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
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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]
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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]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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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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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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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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
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
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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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
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]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
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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
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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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
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
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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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Lundtoft C, Sjöwall C, Rantapää-Dahlqvist S, ..., Leonard D, Rönnblom L
Arthritis & rheumatology (Hoboken, N.J.) 74 (11) 1842-1850 [2022-11-00; online 2022-10-07]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A, Malik R, Hachiya T, ..., Dichgans M, Debette S
Nature 611 (7934) 115-123 [2022-11-00; online 2022-09-30]
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PubMed DOI Crossref
Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.
Yavuz S, Pucholt P, Sandling JK, ..., Lindblad-Toh K, Rönnblom L
Lupus Sci Med 9 (1) - [2022-11-00; online 2022-11-05]
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PubMed DOI Crossref
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, ..., Ferreira MAR, Richards JB
PLoS Genet. 18 (11) e1010367 [2022-11-00; online 2022-11-03]
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PubMed DOI Crossref
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
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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PubMed DOI Crossref
Genomic analyses of the Linum distyly supergene reveal convergent evolution at the molecular level.
Gutiérrez-Valencia J, Fracassetti M, Berdan EL, ..., Arroyo J, Slotte T
Curr. Biol. 32 (20) 4360-4371.e6 [2022-10-24; online 2022-09-09]
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 Long read [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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
Life Sciences 307 (-) 120854 [2022-10-15; online 2022-07-30]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative genome analysis of mycobacteria focusing on tRNA and non-coding RNA.
Behra PRK, Pettersson BMF, Ramesh M, ..., Dasgupta S, Kirsebom LA
BMC Genomics 23 (1) 704 [2022-10-15; online 2022-10-15]
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PubMed DOI Crossref
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.
Oldoni E, Saunders G, Bietrix F, ..., Andreu AL, van Gool AJ
Front Mol Biosci 9 (-) 974799 [2022-10-13; online 2022-10-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Spatiotemporal variations in retrovirus-host interactions among Darwin's finches.
Hill J, Lillie M, Pettersson ME, ..., Andersson L, Jern P
Nat Commun 13 (1) 6033 [2022-10-13; online 2022-10-13]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dormant SOX9-positive cells facilitate MYC-driven recurrence of medulloblastoma.
Borgenvik A, Holmberg KO, Bolin S, ..., Weishaupt H, Swartling FJ
Cancer Res. - (-) - [2022-10-11; online 2022-10-11]
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PubMed DOI Crossref
Absence of oxygen effect on microbial structure and methane production during drying and rewetting events.
Liu T, Li X, Yekta SS, ..., Schnürer A, Enrich-Prast A
Sci Rep 12 (1) 16570 [2022-10-04; online 2022-10-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide association study of liver enzyme elevation in an extended cohort of rheumatoid arthritis patients starting low-dose methotrexate.
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Parasit Vectors 15 (1) 158 [2022-05-05; online 2022-05-05]
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Rojas L, Grüttner J, Ma'ayeh S, Xu F, Svärd SG
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Shakeri Yekta S, Elreedy A, Liu T, ..., Fujii M, Schnürer A
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Boström ADE, Andersson P, Chatzittofis A, ..., Arver S, Jokinen J
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scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation.
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Inflammation and neutrophil extracellular traps in cerebral cavernous malformation.
Yau ACY, Globisch MA, Onyeogaziri FC, ..., Dejana E, Magnusson PU
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Martín-Hernández GC, Müller B, Brandt C, ..., Viehweger A, Passoth V
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Whole-genome resequencing of temporally stratified samples reveals substantial loss of haplotype diversity in the highly inbred Scandinavian wolf population.
Viluma A, Flagstad Ø, Åkesson M, ..., Wabakken P, Ellegren H
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The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum.
Mahjani B, Klei L, Mattheisen M, ..., Devlin B, Grice DE
Am J Psychiatry 179 (3) 216-225 [2022-03-00; online 2021-11-18]
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Int J Mol Sci 23 (4) - [2022-02-17; online 2022-02-17]
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Mol. Ecol. 31 (4) 1111-1127 [2022-02-00; online 2021-12-07]
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Genomic Signatures of Sexual Selection on Pollen-Expressed Genes in Arabis alpina.
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Mol. Biol. Evol. 39 (1) - [2022-01-07; online 2021-12-09]
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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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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
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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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Schlosser P, Tin A, Matias-Garcia PR, ..., Köttgen A, Teumer A
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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
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The SEQC2 epigenomics quality control (EpiQC) study.
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Genome Biol. 22 (1) 332 [2021-12-06; online 2021-12-06]
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The power of genetic diversity in genome-wide association studies of lipids.
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The genomics of heart failure: design and rationale of the HERMES consortium.
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Sci Rep 11 (1) 20134 [2021-10-11; online 2021-10-11]
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Genomics 113 (6) 4022-4027 [2021-10-11; online 2021-10-11]
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Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.
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Front. Fungal Biol. 2 (-) - [2021-09-29; online 2021-09-29]
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Mol. Biol. Evol. 38 (12) 5275-5291 [2021-09-20; online 2021-09-20]
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Temporally balanced selection during development of larval Pacific oysters (Crassostrea gigas) inherently preserves genetic diversity within offspring.
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Axelsson E, Ljungvall I, Bhoumik P, ..., Häggström J, Lindblad-Toh K
PLoS Genet. 17 (9) e1009726 [2021-09-00; online 2021-09-02]
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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.
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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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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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Haplotype-Specific Expression Analysis of MHC Class II Genes in Healthy Individuals and Rheumatoid Arthritis Patients.
Houtman M, Hesselberg E, Rönnblom L, ..., Malmström V, Padyukov L
Front Immunol 12 (-) 707217 [2021-08-17; online 2021-08-17]
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Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors.
Ghouse J, Ahlberg G, Andreasen L, ..., Bundgaard H, Olesen MS
J. Am. Coll. Cardiol. 78 (7) 696-709 [2021-08-17; online 2021-08-14]
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Microbiological Surveillance of Biogas Plants: Targeting Acetogenic Community.
Singh A, Moestedt J, Berg A, Schnürer A
Front Microbiol 12 (-) 700256 [2021-08-16; online 2021-08-16]
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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.
Lindholm Carlström E, Niazi A, Etemadikhah M, ..., Nilsson B, Feuk L
Genes 12 (8) - [2021-08-13; online 2021-08-13]
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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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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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.
Natarajan K, Eisfeldt J, Hammond M, ..., Öijerstedt L, Graff C
Acta Neuropathol Commun 9 (1) 132 [2021-08-03; online 2021-08-03]
Affinity Proteomics Uppsala [Technology development] 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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Long- and short-read metabarcoding technologies reveal similar spatiotemporal structures in fungal communities.
Furneaux B, Bahram M, Rosling A, Yorou NS, Ryberg M
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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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Genomic inference of contemporary effective population size in a large island population of collared flycatchers (Ficedula albicollis).
Nadachowska-Brzyska K, Dutoit L, Smeds L, ..., Gustafsson L, Ellegren H
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.
Ruth KS, Day FR, Hussain J, ..., Roig I, Perry JRB
Nature 596 (7872) 393-397 [2021-08-00; online 2021-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic association study of childhood aggression across raters, instruments, and age.
Ip HF, van der Laan CM, Krapohl EML, ..., Nivard MG, Boomsma DI
Transl Psychiatry 11 (1) 413 [2021-07-30; online 2021-07-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99.
Mattisson J, Danielsson M, Hammond M, ..., Halvardson J, Forsberg LA
Sci Rep 11 (1) 15160 [2021-07-26; online 2021-07-26]
Affinity Proteomics Uppsala [Technology development] Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
Svensson E, Günther T, Hoischen A, ..., Netea MG, Jakobsson M
Curr. Biol. 31 (14) 2973-2983.e9 [2021-07-26; online 2021-05-18]
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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, ..., Borg Å, Lindblom A
Sci Rep 11 (1) 14763 [2021-07-20; online 2021-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Sandling JK, Norheim KB, ..., Eloranta ML, Nordmark G
Front Immunol 12 (-) 702037 [2021-07-16; online 2021-07-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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.
Kerzeli IK, Lord M, Doroszko M, ..., Segersten U, Mangsbo SM
PLoS ONE 16 (7) e0253178 [2021-07-07; online 2021-07-07]
Affinity Proteomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis.
Kundu S, Ali MA, Handin N, ..., Globisch D, Sjöblom T
J. Exp. Clin. Cancer Res. 40 (1) 225 [2021-07-07; online 2021-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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.
Elfstrand M, Chen J, Cleary M, ..., Stadler M, Durling MB
BMC Genomics 22 (1) 503 [2021-07-04; online 2021-07-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole genome sequencing reveals high differentiation, low levels of genetic diversity and short runs of homozygosity among Swedish wels catfish.
Jensen A, Lillie M, Bergström K, Larsson P, Höglund J
Heredity (Edinb) 127 (1) 79-91 [2021-07-00; online 2021-05-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Variants in BANK1 are associated with lupus nephritis of European ancestry.
Bolin K, Imgenberg-Kreuz J, Leonard D, ..., Rönnblom L, Nordmark G
Genes Immun. 22 (3) 194-202 [2021-07-00; online 2021-06-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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On the origin of the widespread self-compatible allotetraploid Capsella bursa-pastoris (Brassicaceae).
Bachmann JA, Tedder A, Fracassetti M, ..., Köhler C, Slotte T
Heredity (Edinb) 127 (1) 124-134 [2021-07-00; online 2021-04-19]
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) [Service] National Genomics Infrastructure [Service]
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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.
Samaras A, Karaoglanidis GS, Tzelepis G
Microbiol Res 248 (-) 126752 [2021-07-00; online 2021-04-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Extreme Y chromosome polymorphism corresponds to five male reproductive morphs of a freshwater fish.
Sandkam BA, Almeida P, Darolti I, ..., Breden F, Mank JE
Nat Ecol Evol 5 (7) 939-948 [2021-07-00; online 2021-05-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Combined prenatal Lactobacillus reuteri and ω-3 supplementation synergistically modulates DNA methylation in neonatal T helper cells.
Huoman J, Martínez-Enguita D, Olsson E, ..., Gustafsson M, Jenmalm MC
Clin Epigenetics 13 (1) 135 [2021-06-30; online 2021-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
McCartney DL, Min JL, Richmond RC, ..., Horvath S, Marioni RE
Genome Biol. 22 (1) 194 [2021-06-29; online 2021-06-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.
Jhun M, Mendelson M, Wilson R, ..., Irvin MR, Assimes TL
Nat Commun 12 (1) 3987 [2021-06-28; online 2021-06-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring.
Chen J, Bi H, Pettersson ME, ..., Scheerer P, Andersson L
Commun Biol 4 (1) 795 [2021-06-25; online 2021-06-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Toll-like receptor 4 methylation grade is linked to depressive symptom severity.
Rasmusson AJ, Gallwitz M, Soltanabadi B, ..., Schiöth HB, Cunningham JL
Transl Psychiatry 11 (1) 371 [2021-06-24; online 2021-06-24]
Affinity Proteomics Uppsala [Service] 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]
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Profiling temporal dynamics of acetogenic communities in anaerobic digesters using next-generation sequencing and T-RFLP.
Singh A, Müller B, Schnürer A
Sci Rep 11 (1) 13298 [2021-06-24; online 2021-06-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The γ-tubulin meshwork assists in the recruitment of PCNA to chromatin in mammalian cells.
Corvaisier M, Zhou J, Malycheva D, ..., Lindström L, Alvarado-Kristensson M
Commun Biol 4 (1) 767 [2021-06-22; online 2021-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Differential DNA Methylation of the Genes for Amyloid Precursor Protein, Tau, and Neurofilaments in Human Traumatic Brain Injury.
Abu Hamdeh S, Ciuculete DM, Sarkisyan D, ..., Schiöth HB, Marklund N
J. Neurotrauma 38 (12) 1679-1688 [2021-06-15; online 2021-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML).
Krali O, Palle J, Bäcklin CL, ..., Zeller B, Nordlund J
Genes 12 (6) 895 [2021-06-10; online 2021-06-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, ..., van der Lee SJ, Ruiz A
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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The trans-ancestral genomic architecture of glycemic traits.
Chen J, Spracklen CN, Marenne G, ..., Barroso I, Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
Nat. Genet. 53 (6) 840-860 [2021-06-00; online 2021-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Kular L
Mult. Scler. 27 (7) 1014-1026 [2021-06-00; online 2020-07-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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A combined approach for single-cell mRNA and intracellular protein expression analysis.
Reimegård J, Tarbier M, Danielsson M, ..., Friedländer MR, Gallant CJ
Commun Biol 4 (1) 624 [2021-05-25; online 2021-05-25]
Affinity Proteomics Uppsala [Technology development] 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]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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How to Make a Rodent Giant: Genomic Basis and Tradeoffs of Gigantism in the Capybara, the World's Largest Rodent.
Herrera-Álvarez S, Karlsson E, Ryder OA, Lindblad-Toh K, Crawford AJ
Mol. Biol. Evol. 38 (5) 1715-1730 [2021-05-04; online 2020-11-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Sperm Methylome Profiling Can Discern Fertility Levels in the Porcine Biomedical Model.
Pértille F, Alvarez-Rodriguez M, da Silva AN, ..., Guerrero-Bosagna C, Rodriguez-Martinez H
Int J Mol Sci 22 (5) 2679 [2021-03-06; online 2021-03-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effluent solids recirculation to municipal sludge digesters enhances long-chain fatty acids degradation capacity.
Shakeri Yekta S, Liu T, Mendes Anacleto T, ..., Björn A, Schnürer A
Biotechnol Biofuels 14 (1) 56 [2021-03-04; online 2021-03-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton L, Ljungström V, Enjuanes A, ..., Stamatopoulos K, Rosenquist R
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]
PubMed DOI Crossref
Whole-genome analyses provide no evidence for dog introgression in Fennoscandian wolf populations.
Smeds L, Aspi J, Berglund J, ..., Tirronen K, Ellegren H
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]
PubMed DOI Crossref
Abundantly expressed class of noncoding RNAs conserved through the multicellular evolution of dictyostelid social amoebas.
Kjellin J, Avesson L, Reimegård J, ..., Schaap P, Söderbom F
Genome Res. 31 (3) 436-447 [2021-03-00; online 2021-01-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combined removal of organic micropollutants and ammonium in reactive barriers developed for managed aquifer recharge.
Modrzyński JJ, Aamand J, Wittorf L, ..., Hallin S, Albers CN
Water Res. 190 (-) 116669 [2021-02-15; online 2020-11-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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 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]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Role of H1 and DNA methylation in selective regulation of transposable elements during heat stress.
Liu S, de Jonge J, Trejo-Arellano MS, ..., Köhler C, Hennig L
New Phytol. 229 (4) 2238-2250 [2021-02-00; online 2020-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Hybrid seed incompatibility in Capsella is connected to chromatin condensation defects in the endosperm.
Dziasek K, Simon L, Lafon-Placette C, ..., Slotte T, Köhler C
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.
Rengefors K, Gollnisch R, Sassenhagen I, ..., Bassham S, Ahrén D
Mol. Ecol. 30 (4) 912-925 [2021-02-00; online 2021-01-20]
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]
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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
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Lagou V, Mägi R, Hottenga JJ, ..., Prokopenko I, Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)
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Waste Management 119 (-) 11-21 [2021-01-01; online 2020-10-05]
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
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Epigenetics 16 (1) 92-105 [2021-01-00; online 2020-07-21]
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]

Year 2020

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Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.
Rendo V, Kundu S, Rameika N, ..., Stoimenov I, Sjöblom T
Sci Rep 10 (1) 22436 [2020-12-31; online 2020-12-31]
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Ekman L, Bagge E, Nyman A, ..., Pringle M, Segerman B
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Mugal CF, Wang M, Backström N, ..., Qvarnström A, Ellegren H
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Org Divers Evol 20 (4) 619-637 [2020-12-00; online 2020-09-07]
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Int J Mol Sci 21 (21) 8069 [2020-10-29; online 2020-10-29]
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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
Front Genet 11 (-) 913 [2020-08-18; online 2020-08-18]
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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
J Am Heart Assoc 9 (16) e014513 [2020-08-18; online 2020-08-04]
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Circulation 142 (6) 546-555 [2020-08-11; online 2020-07-13]
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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
FASEB J. 34 (8) 10250-10266 [2020-08-00; online 2020-06-19]
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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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Hallberg P, Yue QY, Eliasson E, ..., Ås J, Wadelius M
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Heredity (Edinb) 125 (1-2) 73-84 [2020-08-00; online 2020-05-26]
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J. Intern. Med. 288 (2) 234-247 [2020-08-00; online 2020-05-03]
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Peart CR, Tusso S, Pophaly SD, ..., Shafer ABA, Wolf JBW
Nat Ecol Evol 4 (8) 1095-1104 [2020-08-00; online 2020-06-08]
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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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Pre- and postnatal Lactobacillus reuteri treatment alters DNA methylation of infant T helper cells.
Forsberg A, Huoman J, Söderholm S, ..., Gustafsson M, Jenmalm MC
Pediatr Allergy Immunol 31 (5) 544-553 [2020-07-00; online 2020-04-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion.
Almeida P, Proux-Wera E, Churcher A, ..., Berlin S, Mank JE
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]
Microbial Single Cell Genomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Removal of H2Aub1 by ubiquitin-specific proteases 12 and 13 is required for stable Polycomb-mediated gene repression in Arabidopsis.
Kralemann LEM, Liu S, Trejo-Arellano MS, ..., Köhler C, Hennig L
Genome Biol. 21 (1) 144 [2020-06-16; online 2020-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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.
Sakthikumar S, Roy A, Haseeb L, ..., Lindblad-Toh K, Forsberg-Nilsson K
Genome Biol. 21 (1) 127 [2020-06-09; online 2020-06-09]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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
Am. J. Phys. Anthropol. 172 (2) 176-188 [2020-06-00; online 2020-04-15]
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Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira MAR, Vonk JM, Baurecht H, ..., Lee Y, Koppelman GH
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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Transitions in wheat endosperm metabolism upon transcriptional induction of oil accumulation by oat endosperm WRINKLED1.
Grimberg Å, Wilkinson M, Snell P, ..., Shewry P, Hofvander P
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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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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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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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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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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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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Polymerase IV Plays a Crucial Role in Pollen Development in Capsella.
Wang Z, Butel N, Santos-González J, ..., Martinez G, Köhler C
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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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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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]
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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]
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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]
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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]
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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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]
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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]
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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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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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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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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]
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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]
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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]
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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]
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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]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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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]
PubMed DOI Crossref
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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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
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]
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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] NGI Uppsala (SNP&SEQ Technology Platform) [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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic inference of the White Plymouth Rock genealogy.
Guo Y, Lillie M, Zan Y, ..., Siegel PB, Carlborg Ö
Poult. Sci. 98 (11) 5272-5280 [2019-11-01; online 2019-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.
Beijer K, Nowak C, Sundström J, ..., Fall T, Lind L
Diabetologia 62 (11) 1998-2006 [2019-11-00; online 2019-08-24]
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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic architecture of subcortical brain structures in 38,851 individuals.
Satizabal CL, Adams HHH, Hibar DP, ..., Seshadri S, Ikram MA
Nat. Genet. 51 (11) 1624-1636 [2019-11-00; online 2019-10-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia.
Kosalai ST, Morsy MHA, Papakonstantinou N, ..., Rosenquist R, Kanduri M
Epigenetics 14 (11) 1125-1140 [2019-11-00; online 2019-06-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon.
Malmström H, Günther T, Svensson EM, ..., Storå J, Jakobsson M
Proc. Biol. Sci. 286 (1912) 20191528 [2019-10-09; online 2019-10-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Along the Indian Ocean coast: genomic variation in Mozambique provides new insights into the Bantu expansion.
Semo A, Gayà-Vidal M, Fortes-Lima C, ..., Schlebusch C, Rocha J
Mol. Biol. Evol. - (-) - [2019-10-08; online 2019-10-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A, Marten J, Halperin Kuhns VL, ..., Vitart V, Köttgen A
Nat. Genet. - (-) - [2019-10-02; online 2019-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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) [Collaborative] National Genomics Infrastructure [Collaborative]
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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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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PubMed DOI Crossref
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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PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
BioImage Informatics [Collaborative] Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] Genome Engineering Zebrafish [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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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]
PubMed DOI Crossref
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]
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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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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Comparative genomics of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members emphasizing tRNA and non-coding RNA.
Behra PRK, Pettersson BMF, Das S, Dasgupta S, Kirsebom LA
BMC Evol. Biol. 19 (1) 124 [2019-06-18; online 2019-06-18]
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
Microbiota data from low biomass milk samples is markedly affected by laboratory and reagent contamination.
Dahlberg J, Sun L, Persson Waller K, ..., Agenäs S, Dicksved J
PLoS ONE 14 (6) e0218257 [2019-06-13; online 2019-06-13]
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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
de Vries PS, Brown MR, Bentley AR, ..., Rao DC, Morrison AC
Am. J. Epidemiol. 188 (6) 1033-1054 [2019-06-01; online 2019-01-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Integrated epigenomic and transcriptomic analysis reveals TP63 as a novel player in clinically aggressive chronic lymphocytic leukemia.
Papakonstantinou N, Ntoufa S, Tsagiopoulou M, ..., Rosenquist R, Stamatopoulos K
Int. J. Cancer 144 (11) 2695-2706 [2019-06-01; online 2019-01-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of DNA methylation patterns predisposing for an efficient response to BCG vaccination in healthy BCG-naïve subjects.
Das J, Verma D, Gustafsson M, Lerm M
Epigenetics 14 (6) 589-601 [2019-06-00; online 2019-04-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic basis of amphibian larval development along a latitudinal gradient: Gene diversity, selection and links with phenotypic variation in transcription factor C/EBP-1.
Meyer-Lucht Y, Luquet E, Jóhannesdóttir F, ..., Höglund J, Laurila A
Mol. Ecol. 28 (11) 2786-2801 [2019-06-00; online 2019-06-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Detecting selection signatures in three Iranian sheep breeds.
Manzari Z, Mehrabani-Yeganeh H, Nejati-Javaremi A, Moradi MH, Gholizadeh M
Anim Genet 50 (3) 298-302 [2019-06-00; online 2019-03-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Can markers of biological age predict dependency in old age?
Jylhävä J, Jiang M, Foebel AD, Pedersen NL, Hägg S
Biogerontology 20 (3) 321-329 [2019-06-00; online 2019-01-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M, Li Y, Li M, ..., Köttgen A, Pattaro C
Nat. Genet. 51 (6) 957-972 [2019-06-00; online 2019-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic variation in CADM2 as a link between psychological traits and obesity.
Morris J, Bailey MES, Baldassarre D, ..., Smith DJ, Strawbridge RJ
Sci Rep 9 (1) 7339 [2019-05-14; online 2019-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.
Nicoletti P, Barrett S, McEvoy L, ..., Alfirevic A, Pirmohamed M
Clin. Pharmacol. Ther. - (-) - [2019-05-07; online 2019-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetical Genomics of Tonic Immobility in the Chicken.
Fogelholm J, Inkabi S, Höglund A, ..., Henriksen R, Wright D
Genes 10 (5) - [2019-05-07; online 2019-05-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.
Kharazmi M, Michaëlsson K, Schilcher J, ..., Wadelius M, Hallberg P
Calcif. Tissue Int. - (-) - [2019-04-20; online 2019-04-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Sung YJ, de Las Fuentes L, Winkler TW, ..., Rao DC, Morrison AC
Hum. Mol. Genet. - (-) - [2019-04-10; online 2019-04-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended insight into the Mycobacterium chelonae-abscessus complex through whole genome sequencing of Mycobacterium salmoniphilum outbreak and Mycobacterium salmoniphilum-like strains.
Behra PRK, Das S, Pettersson BMF, ..., Ennis DG, Kirsebom LA
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]
PubMed DOI Crossref
Oxygen induces the expression of invasion and stress response genes in the anaerobic salmon parasite Spironucleus salmonicida.
Stairs CW, Kokla A, Ástvaldsson Á, ..., Svärd S, Ettema TJG
BMC Biol. 17 (1) 19 [2019-03-01; online 2019-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L
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]
PubMed DOI Crossref
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE, Karaderi T, Highland HM, ..., North KE, Lindgren CM
Nat. Genet. 51 (3) 452-469 [2019-03-00; online 2019-02-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Shrine N, Guyatt AL, Erzurumluoglu AM, ..., Tobin MD, Wain LV
Nat. Genet. 51 (3) 481-493 [2019-03-00; online 2019-02-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Acosta-Herrera M, Kerick M, González-Serna D, ..., Mayes MD, Martin J
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.
Jansen IE, Savage JE, Watanabe K, ..., Andreassen OA, Posthuma D
Nat. Genet. 51 (3) 404-413 [2019-03-00; online 2019-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
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.
Clergeot PH, Rode NO, Glémin S, ..., Ihrmark K, Olson Å
Genetics 211 (3) 963-976 [2019-03-00; online 2018-12-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
de Vries PS, Sabater-Lleal M, Huffman JE, ..., O'Donnell CJ, Smith NL
Blood 133 (9) 967-977 [2019-02-28; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.
Kessler T, Wolf B, Eriksson N, ..., Kastrati A, Schunkert H
Cardiovasc. Res. - (-) - [2019-02-14; online 2019-02-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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.
Karlsson Linnér R, Biroli P, Kong E, ..., Koellinger PD, Beauchamp JP
Nat. Genet. 51 (2) 245-257 [2019-02-00; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tracking the Epigenetic Clock Across the Human Life Course: A Meta-analysis of Longitudinal Cohort Data.
Marioni RE, Suderman M, Chen BH, ..., Deary IJ, Hägg S
J. Gerontol. A Biol. Sci. Med. Sci. 74 (1) 57-61 [2019-01-01; online 2018-05-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Year 2018

PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] Microbial Single Cell Genomics [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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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]
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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancient genomes suggest the eastern Pontic-Caspian steppe as the source of western Iron Age nomads.
Krzewińska M, Kılınç GM, Juras A, ..., Storå J, Götherström A
Sci Adv 4 (10) eaat4457 [2018-10-00; online 2018-10-03]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Interferon-α enhances the IL-12-induced STAT4 activation selectively in carriers of the STAT4 SLE risk allele rs7574865[T].
Hagberg N, Rönnblom L
Ann. Rheum. Dis. - (-) - [2018-09-29; online 2018-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins
Wang Y, Karlsson R, Lampa E, ..., Pedersen NL, Hägg S
Epigenetics - (-) - [2018-09-28; online 2018-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methanogens and Iron-Reducing Bacteria: the Overlooked Members of Mercury-Methylating Microbial Communities in Boreal Lakes
Bravo AG, Peura S, Buck M, ..., Björn E, Bertilsson S
Appl Environ Microbiol 84 (23) - [2018-09-21; online 2018-11-15]
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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
Bazov I, Sarkisyan D, Kononenko O, ..., Yakovleva T, Bakalkin G
Cereb. Cortex 28 (9) 3129-3142 [2018-09-01; online 2017-10-03]
Bioinformatics Support for Computational Resources [Service] Fluorescence Tissue Profiling [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex Evolutionary History of Translation Elongation Factor 2 and Diphthamide Biosynthesis in Archaea and Parabasalids
Narrowe AB, Spang A, Stairs CW, ..., Miller CS, Ettema TJG
Genome Biol Evol 10 (9) 2380-2393 [2018-09-01; online 2018-08-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-biased gene expression, sexual antagonism and levels of genetic diversity in the collared flycatcher (Ficedula albicollis) genome
Dutoit L, Mugal CF, Bolívar P, ..., Gustafsson L, Ellegren H
Mol Ecol 27 (18) 3572-3581 [2018-09-00; online 2018-09-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sequentially acting SOX proteins orchestrate astrocyte‐ and oligodendrocyte‐specific gene expression
Klum S, Zaouter C, Alekseenko Z, ..., Muhr J, Bergsland M
EMBO Rep. - (-) e46635 [2018-08-30; online 2018-08-30]
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
Novel Autotrophic Organisms Contribute Significantly to the Internal Carbon Cycling Potential of a Boreal Lake
Peura S, Buck M, Aalto SL, ..., Nykänen H, Eiler A
MBio 9 (4) - [2018-08-14; online 2018-08-14]
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
Extensive genomic diversity among Mycobacterium marinum strains revealed by whole genome sequencing
Das S, Pettersson F, Behra PRK, ..., Ennis DG, Kirsebom L
Sci. Rep. 8 (1) - [2018-08-13; online 2018-08-13]
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
Clonal relatedness in tumour pairs of breast cancer patients.
Biermann J, Parris TZ, Nemes S, ..., Karlsson P, Helou K
Breast Cancer Res. 20 (1) 96 [2018-08-09; online 2018-08-09]
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] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Investigation of viable taxa in the deep terrestrial biosphere suggests high rates of nutrient recycling
Lopez-Fernandez M, Broman E, Turner S, ..., Bertilsson S, Dopson M
FEMS Microbiol. Ecol. 94 (8) - [2018-08-01; online 2018-06-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Proteome‐wide analysis of phospho‐regulated PDZ domain interactions
Sundell GN, Arnold R, Ali M, ..., Chi CN, Ivarsson Y
Mol. Syst. Biol. 14 (8) e8129 [2018-08-00; online 2018-08-20]
Drug Discovery and Development (DDD) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prenatal arsenic exposure is associated with increased plasma IGFBP3 concentrations in 9-year-old children partly via changes in DNA methylation.
Gliga AR, Engström K, Kippler M, ..., Raqib R, Broberg K
Arch. Toxicol. 92 (8) 2487-2500 [2018-08-00; online 2018-06-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Lee JJ, Wedow R, Okbay A, ..., Benjamin DJ, Cesarini D
Nat. Genet. 50 (8) 1112-1121 [2018-08-00; online 2018-07-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetics in pediatric acute lymphoblastic leukemia.
Nordlund J, Syvänen AC
Semin. Cancer Biol. 51 (-) 129-138 [2018-08-00; online 2017-09-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
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The mycoparasitic fungus Clonostachys rosea responds with both common and specific gene expression during interspecific interactions with fungal prey
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Evol Appl 11 (6) 931-949 [2018-07-00; online 2018-03-14]
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Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
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The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology.
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Mol. Psychiatry - (-) - [2018-06-22; online 2018-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
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PLoS ONE 13 (6) e0198166 [2018-06-18; online 2018-06-18]
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Presence of Aedes and Anopheles mosquito larvae is correlated to bacteria found in domestic water-storage containers
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FEMS Microbiol. Ecol. 94 (6) - [2018-06-01; online 2018-03-29]
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NPLANTS 4 (6) 352-357 [2018-06-00; online 2018-05-28]
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A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.
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Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]
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A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia.
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Hum. Mol. Genet. 27 (10) 1809-1818 [2018-05-15; online 2018-03-17]
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Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.
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Sci Rep 8 (1) 7526 [2018-05-14; online 2018-05-14]
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The GTPase domain of gamma-tubulin is required for normal mitochondrial function and spatial organization.
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Environ Microbiol 20 (5) 1641-1650 [2018-05-00; online 2018-03-25]
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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
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DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.
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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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Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia.
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Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents.
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A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood.
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Front Genet 9 (-) 97 [2018-03-23; online 2018-03-23]
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Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.
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Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
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Mol. Psychiatry - (-) - [2018-03-08; online 2018-03-08]
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Genome-wide analysis yields new loci associating with aortic valve stenosis.
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A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
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The fungus that came in from the cold: dry rot’s pre-adapted ability to invade buildings
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Cleaner fish escape salmon farms and hybridize with local wrasse populations
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The ZBED6–IGF2 axis has a major effect on growth of skeletal muscle and internal organs in placental mammals
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Targeted Long-Read Sequencing of a Locus Under Long-Term Balancing Selection in Capsella
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Disruption of Accumbens and Thalamic White Matter Connectivity Revealed by Diffusion Tensor Tractography in Young Men with Genetic Risk for Obesity
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Front Hum Neurosci 12 (-) - [2018-02-22; online 2018-02-22]
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Two novel colorectal cancer risk loci in the region on chromosome 9q22.32
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De novo mutations implicate novel genes in systemic lupus erythematosus.
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T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus
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Journal of Autoimmunity 90 (-) 28-38 [2018-02-00; online 2018-02-00]
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Mol Ecol 27 (3) 694-708 [2018-02-00; online 2018-01-22]
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Science of The Total Environment 613-614 (-) 1069-1078 [2018-02-00; online 2018-02-00]
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Demography and mating system shape the genome-wide impact of purifying selection in Arabis alpina.
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Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
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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]
PubMed DOI Crossref
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
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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
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
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
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
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
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]
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
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
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
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
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
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
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
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
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
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]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [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 [Service]
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]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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
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]
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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]
DOI Crossref
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]
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]
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]
DOI Crossref
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
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]
PubMed DOI Crossref
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.
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BMC Cancer 17 (1) 487 [2017-07-17; online 2017-07-17]
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Nat Genet 49 (9) 1385-1391 [2017-07-17; online 2017-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Nat Genet 49 (8) 1174-1181 [2017-07-10; online 2017-07-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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The Lancet Diabetes & Endocrinology 5 (7) 534-543 [2017-07-00; online 2017-07-00]
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Mol. Ecol. 26 (14) 3603-3617 [2017-07-00; online 2017-04-24]
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) [Service] National Genomics Infrastructure [Service]
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EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
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Leukemia 31 (7) 1547-1554 [2017-07-00; online 2017-01-03]
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Mol Ecol 26 (13) 3458-3471 [2017-07-00; online 2017-04-28]
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Diabetes 66 (7) 2019-2032 [2017-07-00; online 2017-03-24]
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Elife 6 (-) - [2017-06-30; online 2017-06-30]
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Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons
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PLoS Genet. 13 (6) e1006820 [2017-06-22; online 2017-06-22]
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Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions
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Functional and Compositional Stability of Bacterial Metacommunities in Response to Salinity Changes
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Front Microbiol 8 (-) - [2017-06-08; online 2017-06-08]
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Heredity 118 (6) 563-567 [2017-06-00; online 2017-01-18]
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Psychoneuroendocrinology 80 (-) 67-73 [2017-06-00; online 2017-06-00]
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Environ Microbiol 19 (6) 2391-2404 [2017-06-00; online 2017-05-05]
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A DNA methylation site within the KLF13 gene is associated with orexigenic processes based on neural responses and ghrelin levels.
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Int J Obes (Lond) 41 (6) 990-994 [2017-06-00; online 2017-02-14]
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Transl Psychiatry 7 (5) e1142 [2017-05-30; online 2017-05-30]
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Mol. Cell. Endocrinol. 446 (-) 52-58 [2017-05-05; online 2017-02-09]
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Bioinformatics Support for Computational Resources [Service] 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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Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
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Hum Genet 136 (5) 657-663 [2017-05-00; online 2017-04-19]
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Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications.
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Genome Res. 27 (5) 697-708 [2017-05-00; online 2017-03-30]
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 [Service]
PubMed DOI Crossref
Bayesian Inference of Allele-Specific Gene Expression Indicates Abundant Cis-Regulatory Variation in Natural Flycatcher Populations
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Genome Biol Evol 9 (5) 1266-1279 [2017-05-00; online 2017-05-01]
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Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
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Nat Commun 8 (-) 14977 [2017-04-26; online 2017-04-26]
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Proc Natl Acad Sci USA 114 (17) E3452-E3461 [2017-04-25; online 2017-04-07]
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
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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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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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SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing.
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Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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Interactions of Freshwater Cyanobacteria with Bacterial Antagonists
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Whole-Genome Bisulfite Sequencing of Human Pancreatic Islets Reveals Novel Differentially Methylated Regions in Type 2 Diabetes Pathogenesis
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Diabetes 66 (4) 1074-1085 [2017-04-00; online 2017-01-04]
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PLoS Genet. 13 (4) e1006706 [2017-04-00; online 2017-04-03]
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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Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies.
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Epigenomics 9 (4) 407-418 [2017-04-00; online 2017-03-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
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Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Technology development]
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Microbial community assembly and evolution in subseafloor sediment
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Proc Natl Acad Sci USA 114 (11) 2940-2945 [2017-03-14; online 2017-02-27]
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Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent in Ficedula Flycatcher Genome Sequences
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Genetics 205 (3) 1319-1334 [2017-03-00; online 2017-01-18]
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Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.
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DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites.
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Pediatr Blood Cancer 64 (3) - [2017-03-00; online 2016-10-27]
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A genetic risk score is significantly associated with statin therapy response in the elderly population.
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Covariation in levels of nucleotide diversity in homologous regions of the avian genome long after completion of lineage sorting
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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.
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Distinct Anaerobic Bacterial Consumers of Cellobiose-Derived Carbon in Boreal Fens with Different CO2/CH4 Production Ratios
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Genetic and Functional Study of L-Type Amino Acid Transporter 1 in Schizophrenia.
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Neuropsychobiology 74 (2) 96-103 [2017-02-11; online 2017-02-11]
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Detection of Somatic Mutations in Gastroenteropancreatic Neuroendocrine Tumors Using Targeted Deep Sequencing
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Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.
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Genetic and Targeted eQTL Mapping Reveals Strong Candidate Genes Modulating the Stress Response During Chicken Domestication
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G3 (Bethesda) 7 (2) 497-504 [2017-02-00; online 2016-12-14]
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Mol. Psychiatry 22 (2) 192-201 [2017-02-00; online 2016-05-18]
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Haematologica 102 (2) 336-345 [2017-02-00; online 2016-09-09]
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A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population.
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Neurogastroenterol. Motil. 29 (2) - [2017-02-00; online 2016-08-04]
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Genomic analysis reveals major determinants of cis-regulatory variation in Capsella grandiflora.
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Proc. Natl. Acad. Sci. U.S.A. 114 (5) 1087-1092 [2017-01-31; online 2017-01-17]
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]
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Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
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Circ. Res. 120 (2) 341-353 [2017-01-20; online 2016-12-03]
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A methylome-wide mQTL analysis reveals associations of methylation sites with GAD1 and HDAC3 SNPs and a general psychiatric risk score.
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Transl Psychiatry 7 (1) e1002 [2017-01-17; online 2017-01-17]
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Asgard archaea illuminate the origin of eukaryotic cellular complexity
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Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus
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Hum. Mol. Genet. - (-) ddw417 [2017-01-05; online 2017-01-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenetic changes as prognostic predictors in endometrial carcinomas.
Farkas SA, Sorbe BG, Nilsson TK
Epigenetics 12 (1) 19-26 [2017-01-02; online 2016-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) [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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Investigating kinship of Neolithic post-LBK human remains from Krusza Zamkowa, Poland using ancient DNA.
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
124 CHANGES IN GENE EXPRESSION FOLLOWING EXPOSURE OF BOVINE ENDOMETRIAL EPITHELIAL CELLS (bEEC) TO ESCHERICHIA COLI LPS; THEIR POSSIBLE EFFECT ON IMPLANTATION
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

PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Introduction and persistence of tularemia in Bulgaria.
Myrtennäs K, Marinov K, Johansson A, ..., Byström M, Forsman M
Infect Ecol Epidemiol 6 (-) 32838 [2016-10-26; online 2016-10-26]
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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Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor.
Dahlin AM, Wibom C, Ghasimi S, ..., Andersson U, Melin B
PLoS ONE 11 (10) e0163067 [2016-10-25; online 2016-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
Loley C, Alver M, Assimes TL, ..., Erdmann J, König IR
Sci Rep 6 (-) 35278 [2016-10-12; online 2016-10-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of the brain mural cell transcriptome.
He L, Vanlandewijck M, Raschperger E, ..., Keller A, Betsholtz C
Sci Rep 6 (-) 35108 [2016-10-11; online 2016-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Picodroplet partitioned whole genome amplification of low biomass samples preserves genomic diversity for metagenomic analysis.
Hammond M, Homa F, Andersson-Svahn H, Ettema TJ, Joensson HN
Microbiome 4 (1) 52 [2016-10-06; online 2016-10-06]
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
Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.
Jiao H, Kulyté A, Näslund E, ..., Arner P, Dahlman I
Diabetes 65 (10) 2980-2989 [2016-10-00; online 2016-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret GB, Ferreira T, Chasman DI, ..., Newton-Cheh C, Munroe PB
Nat. Genet. 48 (10) 1171-1184 [2016-10-00; online 2016-09-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness.
Strawbridge RJ, Hilding A, Silveira A, ..., Bäcklund A, IMPROVE Study Group
Diabetes 65 (10) 2888-2899 [2016-10-00; online 2016-09-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Polygenic associations of neurodevelopmental genes in suicide attempt.
Sokolowski M, Wasserman J, Wasserman D
Mol. Psychiatry 21 (10) 1381-1390 [2016-10-00; online 2015-12-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.
Fall T, Salihovic S, Brandmaier S, ..., Ingelsson E, Lind L
Diabetologia 59 (10) 2114-2124 [2016-10-00; online 2016-07-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effects of multiple dimensions of bacterial diversity on functioning, stability and multifunctionality.
Roger F, Bertilsson S, Langenheder S, Osman OA, Gamfeldt L
Ecology 97 (10) 2716-2728 [2016-10-00; online 2016-09-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study.
Nowak C, Salihovic S, Ganna A, ..., Ingelsson E, Fall T
PLoS Genet. 12 (10) e1006379 [2016-10-00; online 2016-10-21]
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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DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.
Wahlberg P, Lundmark A, Nordlund J, ..., Lönnerholm G, Syvänen AC
Epigenomics 8 (10) 1367-1387 [2016-10-00; online 2016-08-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Connectivity to the surface determines diversity patterns in subsurface aquifers of the Fennoscandian shield.
Hubalek V, Wu X, Eiler A, ..., Bertilsson S, Ionescu D
ISME J 10 (10) 2447-2458 [2016-10-00; online 2016-03-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clonality of erythromycin resistance in Francisella tularensis.
Karlsson E, Golovliov I, Lärkeryd A, ..., Forsman M, Johansson A
J. Antimicrob. Chemother. 71 (10) 2815-2823 [2016-10-00; online 2016-06-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
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 Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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.
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A Rickettsiales symbiont of amoebae with ancient features.
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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]
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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]
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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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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]
Bioinformatics Support for Computational Resources [Service] 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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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.
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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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Remnants of marine bacterial communities can be retrieved from deep sediments in lakes of marine origin.
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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]
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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]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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]
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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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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]
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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]
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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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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]
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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]
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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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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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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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]
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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]
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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]
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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]
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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]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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 Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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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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PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] 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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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
Ghasimi S, Wibom C, Dahlin AM, ..., Andersson U, Melin B
J. Neurooncol. 127 (3) 483-492 [2016-05-00; online 2016-02-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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Associations between a locus downstream DRD1 gene and cerebrospinal fluid dopamine metabolite concentrations in psychosis.
Andreou D, Söderman E, Axelsson T, ..., Agartz I, Jönsson EG
Neurosci. Lett. 619 (-) 126-130 [2016-04-21; online 2016-03-10]
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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]
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
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.
van den Berg SM, de Moor MH, Verweij KJ, ..., Martin NG, Boomsma DI
Behav. Genet. 46 (2) 170-182 [2016-03-00; online 2015-09-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
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
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]
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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]
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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]
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
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
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
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
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
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
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
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
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
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
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]

Year 2015

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
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-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
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
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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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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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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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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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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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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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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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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
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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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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
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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
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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
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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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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
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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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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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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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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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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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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]
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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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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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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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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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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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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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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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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
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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
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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]
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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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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
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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
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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
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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
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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
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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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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
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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]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Cooperative genetic changes in pediatric B-cell precursor acute lymphoblastic leukemia with deletions or mutations of IKZF1.
Olsson L, Albitar F, Castor A, ..., Paulsson K, Johansson B
Genes Chromosomes Cancer 54 (5) 315-325 [2015-05-00; online 2015-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Age- and sex-specific causal effects of adiposity on cardiovascular risk factors.
Fall T, Hägg S, Ploner A, ..., Ingelsson E, ENGAGE Consortium
Diabetes 64 (5) 1841-1852 [2015-05-00; online 2015-02-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genetically determined height and coronary artery disease.
Nelson CP, Hamby SE, Saleheen D, ..., Samani NJ, CARDIoGRAM+C4D Consortium
N. Engl. J. Med. 372 (17) 1608-1618 [2015-04-23; online 2015-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, ..., Thompson PM, Medland SE
Nature 520 (7546) 224-229 [2015-04-09; online 2015-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium.
Shungin D, Cornelis MC, Divaris K, ..., Johansson I, Franks PW
Int J Epidemiol 44 (2) 638-650 [2015-04-00; online 2015-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults.
Zimmermann E, Ängquist LH, Mirza SS, ..., Sonestedt E, Sørensen TIA
Obes Rev 16 (4) 327-340 [2015-04-00; online 2015-03-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene.
Knowles JW, Xie W, Zhang Z, ..., Walker M, Quertermous T
J. Clin. Invest. 125 (4) 1739-1751 [2015-04-00; online 2015-03-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Duffy antigen receptor genetic variant and the association with Interleukin 8 levels.
Moreno Velásquez I, Kumar J, Björkbacka H, ..., de Faire U, Gigante B
Cytokine 72 (2) 178-184 [2015-04-00; online 2015-01-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Adiposity as a cause of cardiovascular disease: a Mendelian randomization study.
Hägg S, Fall T, Ploner A, ..., Ingelsson E, European Network for Genetic and Genomic Epidemiology Consortium
Int J Epidemiol 44 (2) 578-586 [2015-04-00; online 2015-05-27]
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Modulation of genetic associations with serum urate levels by body-mass-index in humans.
Huffman JE, Albrecht E, Teumer A, ..., Köttgen A, Vitart V
PLoS ONE 10 (3) e0119752 [2015-03-26; online 2015-03-26]
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Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease.
Gigante B, Strawbridge RJ, Velasquez IM, ..., Humphries SE, de Faire U
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Hybrid origins and the earliest stages of diploidization in the highly successful recent polyploid Capsella bursa-pastoris.
Douglas GM, Gos G, Steige KA, ..., Slotte T, Wright SI
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Kim K, Bang SY, Lee HS, ..., Plenge RM, Bae SC
Ann. Rheum. Dis. 74 (3) e13 [2015-03-00; online 2014-02-14]
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Gholizadeh M, Rahimi-Mianji G, Nejati-Javaremi A
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Dorshorst B, Harun-Or-Rashid M, Bagherpoor AJ, ..., Hallböök F, Andersson L
PLoS Genet. 11 (3) e1004947 [2015-03-00; online 2015-03-19]
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Nilsson EK, Ernst B, Voisin S, ..., Schultes B, Schiöth HB
PLoS ONE 10 (2) e0115186 [2015-02-24; online 2015-02-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Lamichhaney S, Berglund J, Almén MS, ..., Webster MT, Andersson L
Nature 518 (7539) 371-375 [2015-02-19; online 2015-02-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia.
Nordlund J, Bäcklin CL, Zachariadis V, ..., Forestier E, Syvänen AC
Clin Epigenetics 7 (-) 11 [2015-02-17; online 2015-02-17]
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New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, ..., Lindgren CM, Mohlke KL
Nature 518 (7538) 187-196 [2015-02-12; online 2015-02-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Locke AE, Kahali B, Berndt SI, ..., Loos RJF, Speliotes EK
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NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Microbial community composition and diversity via 16S rRNA gene amplicons: evaluating the illumina platform.
Sinclair L, Osman OA, Bertilsson S, Eiler A
PLoS ONE 10 (2) e0116955 [2015-02-03; online 2015-02-03]
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Transcriptional responses of the bacterial antagonist Serratia plymuthica to the fungal phytopathogen Rhizoctonia solani.
Neupane S, Finlay RD, Alström S, Elfstrand M, Högberg N
Environ Microbiol Rep 7 (1) 123-127 [2015-02-00; online 2014-08-21]
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Kämpfer P, Glaeser SP, Nilsson LKJ, ..., Busse H, Terenius O
Int. J. Syst. Evol. Microbiol. 65 (Pt 2) 444-451 [2015-02-00; online 2014-11-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Predicting venous thrombosis in women using a combination of genetic markers and clinical risk factors.
Bruzelius M, Bottai M, Sabater-Lleal M, ..., Hamsten A, Odeberg J
J. Thromb. Haemost. 13 (2) 219-227 [2015-02-00; online 2014-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Genome and physiology of the ascomycete filamentous fungus Xeromyces bisporus, the most xerophilic organism isolated to date.
Leong SL, Lantz H, Pettersson OV, ..., Tellgren-Roth C, Schnürer J
Environ. Microbiol. 17 (2) 496-513 [2015-02-00; online 2014-08-22]
Bioinformatics (NBIS) Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
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Environmental and genetic factors in the development of anticitrullinated protein antibodies (ACPAs) and ACPA-positive rheumatoid arthritis: an epidemiological investigation in twins.
Hensvold AH, Magnusson PK, Joshua V, ..., Klareskog L, Catrina AI
Ann. Rheum. Dis. 74 (2) 375-380 [2015-02-00; online 2013-11-28]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Wessel J, Chu AY, Willems SM, ..., Scott RA, Goodarzi MO
Nat Commun 6 (-) 5897 [2015-01-29; online 2015-01-29]
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Biological interpretation of genome-wide association studies using predicted gene functions.
Pers TH, Karjalainen JM, Chan Y, ..., Hirschhorn JN, Franke L
Nat Commun 6 (-) 5890 [2015-01-19; online 2015-01-19]
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Comparison of heritability of Cystatin C- and creatinine-based estimates of kidney function and their relation to heritability of cardiovascular disease.
Arpegård J, Viktorin A, Chang Z, ..., Magnusson PK, Svensson P
J Am Heart Assoc 4 (1) e001467 [2015-01-14; online 2015-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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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
Genes Immun. 16 (3) 199-205 [2015-01-08; online 2015-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Insights on the evolution of mycoparasitism from the genome of Clonostachys rosea.
Karlsson M, Durling MB, Choi J, ..., Lee YH, Jensen DF
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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A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis.
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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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

Year 2014

PubMed DOI Crossref
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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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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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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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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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]
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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]
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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
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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]
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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]
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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
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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
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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
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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
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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]
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
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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
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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]
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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
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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
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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
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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]
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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
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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
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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
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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]
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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
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
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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
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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
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
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
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
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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
PubMed DOI Crossref
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 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
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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]
PubMed DOI Crossref
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
PubMed DOI Crossref
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
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
PubMed DOI Crossref
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 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
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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]
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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
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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
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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
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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
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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
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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
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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
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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
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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]
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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]
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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
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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
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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
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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
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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
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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
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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

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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]
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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
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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
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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
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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
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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
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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
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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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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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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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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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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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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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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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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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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
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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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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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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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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 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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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
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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
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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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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
PubMed DOI Crossref
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
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
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
PubMed DOI Crossref
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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