Bioinformatics Compute and Storage

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Publications

2018 (222)

2017 (577)

2016 (627)

2015 (423)

2014 (374)

2013 (317)

2012 (243)

2011 (164)

2010 (139)

All (3086)


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Journals

SciLifeLab National facility since 2013. Previously associated with the UPPNEX project at UPPMAX.

377 publications

Year 2018

PubMed DOI Crossref
A DNA methylation biomarker of alcohol consumption.
Liu C, Marioni RE, ..., Ingelsson E, Levy D
Mol. Psychiatry 23 (2) 422-433 [2018-02-00; online 2016-11-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
DOI Crossref
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations
Lodé L, Ameur A, ..., Lavabre-Bertrand T, Soussi T
Haematologica 103 (1) e13-e16 [2018-01-00; online 2017-10-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
DOI Crossref
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
Tariq M, Khan TN, ..., Dahl N, Klar J
Clin Genet 93 (1) 182-186 [2018-01-00; online 2017-11-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]

Year 2017

PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
Marincevic-Zuniga Y, Dahlberg J, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) - [2017-12-00; online 2017-08-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Inflammatory infiltrates in parathyroid tumors.
Haglund F, Hallström BM, ..., Juhlin CC, Larsson C
Eur. J. Endocrinol. 177 (6) 445-453 [2017-12-00; online 2017-08-30]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Multiple genotypes within aecial clusters in Puccinia graminis and Puccinia coronata: improved understanding of the biology of cereal rust fungi
Berlin A, Samils B, Andersson B
Fungal Biol Biotechnol 4 (1) - [2017-12-00; online 2017-05-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [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, ..., Wagner EGH, Grabherr MG
BioData Mining 10 (1) - [2017-12-00; online 2017-09-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Novel risk genes for systemic lupus erythematosus predicted by random forest classification
Almlöf JC, Alexsson A, ..., Sandling JK, Syvänen AC
Sci Rep 7 (1) - [2017-12-00; online 2017-07-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Stattin EL, Henning P, ..., Wikström J, Lerner UH
Sci Rep 7 (1) - [2017-12-00; online 2017-06-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Correspondence on Lovell et al.: identification of chicken genes previously assumed to be evolutionarily lost
Bornelöv S, Seroussi E, ..., Friedman-Einat M, Andersson L
Genome Biol. 18 (1) - [2017-12-00; online 2017-06-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Fluorescent CRISPR Adaptation Reporter for rapid quantification of spacer acquisition
Amlinger L, Hoekzema M, ..., Koskiniemi S, Lundgren M
Sci Rep 7 (1) - [2017-12-00; online 2017-09-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [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, ..., Rönnbäck A, Graff C
Acta Neuropathol Commun 5 (1) - [2017-12-00; online 2017-06-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Untreated urban waste contaminates Indian river sediments with resistance genes to last resort antibiotics.
Marathe NP, Pal C, ..., Kristiansson E, Larsson DGJ
Water Res. 124 (-) 388-397 [2017-11-01; online 2017-07-25]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
High abundance and expression of transposases in bacteria from the Baltic Sea.
Vigil-Stenman T, Ininbergs K, Bergman B, Ekman M
ISME J 11 (11) 2611-2623 [2017-11-00; online 2017-07-21]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Ninety-nine de novo assembled genomes from the moose (Alces alces) rumen microbiome provide new insights into microbial plant biomass degradation.
Svartström O, Alneberg J, ..., Aspeborg H, Andersson AF
ISME J 11 (11) 2538-2551 [2017-11-00; online 2017-07-21]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, Ericson K, ..., Frykholm C, Wilbe M
Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, ..., Magnusson PK, Gyllensten U
Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Efficient protein production by yeast requires global tuning of metabolism.
Huang M, Bao J, ..., Petranovic D, Nielsen J
Nat Commun 8 (1) 1131 [2017-10-25; online 2017-10-25]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Polysome-profiling in small tissue samples.
Liang S, Bellato HM, ..., Hajj GNM, Larsson O
Nucleic Acids Res. - (-) - [2017-10-23; online 2017-10-23]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Below-ground organic matter accumulation along a boreal forest fertility gradient relates to guild interaction within fungal communities
Kyaschenko J, Clemmensen KE, Karltun E, Lindahl BD
Ecol Lett - (-) - [2017-10-22; online 2017-10-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
De novo design and synthesis of a 30-cistron translation-factor module
Shepherd TR, Du L, ..., Yomo T, Forster AC
Nucleic Acids Res 45 (18) 10895-10905 [2017-10-13; online 2017-09-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Spatial detection of fetal marker genes expressed at low level in adult human heart tissue.
Asp M, Salmén F, ..., Linde C, Lundeberg J
Sci Rep 7 (1) 12941 [2017-10-11; online 2017-10-11]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Diatoms dominate the eukaryotic metatranscriptome during spring in coastal 'dead zone' sediments.
Broman E, Sachpazidou V, Dopson M, Hylander S
Proc. Biol. Sci. 284 (1864) - [2017-10-11; online 2017-10-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, ..., Thuresson AC, Feuk L
Am. J. Med. Genet. B Neuropsychiatr. Genet. - (-) - [2017-10-09; online 2017-10-09]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [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, ..., Wiklund C, Backström N
Genome Biol Evol 9 (10) 2491-2505 [2017-10-01; online 2017-10-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
DNA methylation profiles in red blood cells of adult hens correlate with their rearing conditions
Pértille F, Brantsæter M, ..., Jensen P, Guerrero-Bosagna C
J Exp Biol 220 (19) 3579-3587 [2017-10-01; online 2017-08-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Shaping the Tumor Stroma and Sparking Immune Activation by CD40 and 4-1BB Signaling Induced by an Armed Oncolytic Virus
Eriksson E, Milenova I, ..., Alemany R, Loskog A
Clin. Cancer Res. 23 (19) 5846-5857 [2017-10-01; online 2017-05-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative]
DOI Crossref
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
Zhao JJ, Halvardson J, ..., Thuresson AC, Feuk L
Human Mutation 38 (10) 1394-1401 [2017-10-00; online 2017-06-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
DOI Crossref
Quantitative interactions between the biocontrol fungus Phlebiopsis gigantea , the forest pathogen Heterobasidion annosum and the fungal community inhabiting Norway spruce stumps
Oliva J, Messal M, Wendt L, Elfstrand M
Forest Ecology and Management 402 (-) 253-264 [2017-10-00; online 2017-10-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
NorWood: a gene expression resource for evo-devo studies of conifer wood development.
Jokipii-Lukkari S, Sundell D, ..., Street NR, Tuominen H
New Phytol. 216 (2) 482-494 [2017-10-00; online 2017-02-10]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
DOI Crossref
Conflicting results from mitochondrial genomic data challenge current views of Rubiaceae phylogeny
Rydin C, Wikström N, Bremer B
Am. J. Bot. 104 (10) 1522-1532 [2017-10-00; online 2017-10-18]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Hamsten A, IMPROVE study group
Atherosclerosis 266 (-) 196-204 [2017-09-28; online 2017-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
Schlebusch CM, Malmström H, ..., Lombard M, Jakobsson M
Science - (-) eaao6266 [2017-09-28; online 2017-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Anti-mycobacterial activity correlates with altered DNA methylation pattern in immune cells from BCG-vaccinated subjects.
Verma D, Parasa VR, ..., Netea M, Lerm M
Sci Rep 7 (1) 12305 [2017-09-26; online 2017-09-26]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Genetic risk scores and family history as predictors of schizophrenia in Nordic registers.
Lu Y, Pouget JG, ..., Werge T, Sullivan PF
Psychol Med - (-) 1-9 [2017-09-25; online 2017-09-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
The complete genome sequence of human adenovirus 84, a highly recombinant new Human mastadenovirus D type with a unique fiber gene.
Kaján GL, Kajon AE, ..., Bartha D, Arnberg N
Virus Res. 242 (-) 79-84 [2017-09-18; online 2017-09-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M, Gudmundsson S, ..., Frykholm C, Bondeson M
Prenat. Diagn. - (-) - [2017-09-16; online 2017-09-16]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development]
PubMed DOI Crossref
Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth.
Yu NY, Bieder A, ..., Daub CO, Kere J
Sci Rep 7 (1) 11458 [2017-09-13; online 2017-09-13]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
A female Viking warrior confirmed by genomics.
Hedenstierna-Jonson C, Kjellström A, ..., Götherström A, Storå J
Am. J. Phys. Anthropol. - (-) - [2017-09-08; online 2017-09-08]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Analysing Microbial Community Composition through Amplicon Sequencing: From Sampling to Hypothesis Testing.
Hugerth LW, Andersson AF
Front Microbiol 8 (-) 1561 [2017-09-04; online 2017-09-04]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Webster MT, Vilà C
PeerJ 5 (-) e3702 [2017-09-01; online 2017-09-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Retention of seed trees fails to lifeboat ectomycorrhizal fungal diversity in harvested Scots pine forests.
Varenius K, Lindahl BD, Dahlberg A
FEMS Microbiol. Ecol. 93 (9) - [2017-09-01; online 2017-09-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
The Huperzia selago Shoot Tip Transcriptome Sheds New Light on the Evolution of Leaves.
Evkaikina AI, Berke L, ..., Pawlowski K, Voitsekhovskaja OV
Genome Biol Evol 9 (9) 2444-2460 [2017-09-01; online 2017-09-29]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
A CRISPR-Cas9 Generated MDCK Cell Line Expressing Human MDR1 Without Endogenous Canine MDR1 (cABCB1): An Improved Tool for Drug Efflux Studies.
Karlgren M, Simoff I, ..., Oswald S, Artursson P
J Pharm Sci 106 (9) 2909-2913 [2017-09-00; online 2017-04-24]
Bioinformatics Compute and Storage [Service] Chemical Biology Consortium Sweden (CBCS) [Technology development] Drug Discovery and Development (DDD) [Technology development] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
Ahsan M, Ek WE, ..., Gyllensten U, Johansson Å
PLoS Genet. 13 (9) e1007005 [2017-09-00; online 2017-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.
Brænne I, Willenborg C, ..., Erdmann J, Schunkert H
Sci Rep 7 (1) 10252 [2017-08-31; online 2017-08-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E, Peyrard-Janvid M, ..., Leinonen E, Kere J
Sci Rep 7 (1) 9294 [2017-08-24; online 2017-08-24]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
A pathology atlas of the human cancer transcriptome.
Uhlen M, Zhang C, ..., Mardinoglu A, Ponten F
Science 357 (6352) - [2017-08-18; online 2017-08-19]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] Tissue Profiling [Technology development]
PubMed DOI Crossref
Tea and coffee consumption in relation to DNA methylation in four European cohorts.
Ek WE, Tobi EW, ..., Johansson Å, Epigenome-Wide Association Study Consortium
Hum. Mol. Genet. 26 (16) 3221-3231 [2017-08-15; online 2017-05-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Shifts in coastal sediment oxygenation cause pronounced changes in microbial community composition and associated metabolism.
Broman E, Sjöstedt J, Pinhassi J, Dopson M
Microbiome 5 (1) 96 [2017-08-09; online 2017-08-09]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Rho-associated kinase is a therapeutic target in neuroblastoma.
Dyberg C, Fransson S, ..., Johnsen JI, Wickström M
Proc. Natl. Acad. Sci. U.S.A. 114 (32) E6603-E6612 [2017-08-08; online 2017-07-24]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, ..., Grasemann C, Mäkitie O
J. Bone Miner. Res. - (-) - [2017-08-04; online 2017-08-04]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Backhaus T, Eriksson KM
FEMS Microbiol. Lett. 364 (14) - [2017-08-01; online 2017-06-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP, Rasi C, ..., Hellman P, Tiensuu Janson E
Endocr. Relat. Cancer 24 (8) 427-443 [2017-08-00; online 2017-06-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
DOI Crossref
Regional genetic differentiation in the blue mussel from the Baltic Sea area
Larsson J, Lind EE, ..., Smolarz K, Lönn M
Estuarine, Coastal and Shelf Science 195 (-) 98-109 [2017-08-00; online 2017-08-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Data on haplotype-supported immunoglobulin germline gene inference.
Kirik U, Greiff L, Levander F, Ohlin M
Data Brief 13 (-) 620-640 [2017-08-00; online 2017-06-27]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Northeast African genomic variation shaped by the continuity of indigenous groups and Eurasian migrations.
Hollfelder N, Schlebusch CM, ..., Hassan HY, Jakobsson M
PLoS Genet. 13 (8) e1006976 [2017-08-00; online 2017-08-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
DOI Crossref
Bioinformatic processing of RAD-seq data dramatically impacts downstream population genetic inference
Shafer ABA, Peart CR, ..., Wheat CW, Wolf JBW
Methods Ecol Evol 8 (8) 907-917 [2017-08-00; online 2016-11-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Low temperature, autotrophic microbial denitrification using thiosulfate or thiocyanate as electron donor.
Broman E, Jawad A, ..., Sundkvist JE, Dopson M
Biodegradation 28 (4) 287-301 [2017-08-00; online 2017-06-02]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
DOI Crossref
Genetic differences between willow warbler migratory phenotypes are few and cluster in large haplotype blocks
Lundberg M, Liedvogel M, ..., Åkesson S, Bensch S
Evolution Letters 1 (3) 155-168 [2017-08-00; online 2017-06-16]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Droplet Barcode Sequencing for targeted linked-read haplotyping of single DNA molecules.
Redin D, Borgström E, ..., Käller M, Ahmadian A
Nucleic Acids Res. 45 (13) e125 [2017-07-27; online 2017-05-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.
Kämpe AJ, Costantini A, ..., Jiao H, Mäkitie O
Osteoporos Int - (-) - [2017-07-26; online 2017-07-26]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition.
Larsson C, Ali MA, ..., He L, Sjöblom T
BMC Cancer 17 (1) 487 [2017-07-17; online 2017-07-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Transcriptional profiling of the rat nucleus accumbens after modest or high alcohol exposure.
Morud J, Ashouri A, ..., Ericson M, Söderpalm B
PLoS ONE 12 (7) e0181084 [2017-07-17; online 2017-07-17]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Analysis of aquaporins from the euryhaline barnacle Balanus improvisus reveals differential expression in response to changes in salinity.
Lind U, Järvå M, ..., Hedfalk K, Blomberg A
PLoS ONE 12 (7) e0181192 [2017-07-17; online 2017-07-17]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Transancestral mapping and genetic load in systemic lupus erythematosus.
Langefeld CD, Ainsworth HC, ..., Gaffney PM, Vyse TJ
Nat Commun 8 (-) 16021 [2017-07-17; online 2017-07-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Does antifouling paint select for antibiotic resistance?
Flach CF, Pal C, ..., Tysklind M, Larsson DG
Sci. Total Environ. 590-591 (-) 461-468 [2017-07-15; online 2017-03-08]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Whole mitochondrial genome capture from faecal samples and museum-preserved specimens.
van der Valk T, Lona Durazo F, Dalén L, Guschanski K
Mol Ecol Resour - (-) - [2017-07-04; online 2017-07-04]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
DOI Crossref
Mineral Type Structures Soil Microbial Communities
Ahmed E, Hugerth LW, ..., Andersson AF, Holmström SJM
Geomicrobiology Journal - (-) 1-8 [2017-07-03; online 2016-08-25]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Interspecific Plastome Recombination Reflects Ancient Reticulate Evolution in Picea (Pinaceae).
Sullivan AR, Schiffthaler B, ..., Street NR, Wang XR
Mol. Biol. Evol. 34 (7) 1689-1701 [2017-07-01; online 2017-04-07]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Manning A, Highland HM, ..., Gloyn AL, Lindgren CM
Diabetes 66 (7) 2019-2032 [2017-07-00; online 2017-03-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
Young E, Noerenberg D, ..., Rosenquist R, Damm F
Leukemia 31 (7) 1547-1554 [2017-07-00; online 2017-01-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Wholegrain oat diet changes the expression of genes associated with intestinal bile acid transport.
Andersson KE, Chawade A, ..., Olsson O, Hellstrand P
Mol Nutr Food Res 61 (7) - [2017-07-00; online 2017-03-30]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador.
Hernandez-Castro LE, Paterno M, ..., Grijalva MJ, Llewellyn MS
PLoS Negl Trop Dis 11 (7) e0005710 [2017-07-00; online 2017-07-19]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Parallel antibody germline gene and haplotype analyses support the validity of immunoglobulin germline gene inference and discovery.
Kirik U, Greiff L, Levander F, Ohlin M
Mol. Immunol. 87 (-) 12-22 [2017-07-00; online 2017-04-04]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Genomewide analysis of admixture and adaptation in the Africanized honeybee.
Nelson RM, Wallberg A, ..., Lawson DJ, Webster MT
Mol. Ecol. 26 (14) 3603-3617 [2017-07-00; online 2017-04-24]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate
Feng C, Pettersson M, ..., Folkvord A, Andersson L
Elife 6 (-) - [2017-06-30; online 2017-06-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Leucine Biosynthesis Is Involved in Regulating High Lipid Accumulation in Yarrowia lipolytica.
Kerkhoven EJ, Kim YM, ..., Metz TO, Nielsen J
MBio 8 (3) - [2017-06-20; online 2017-06-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
Nolte IM, Munoz ML, ..., Snieder H, de Geus EJC
Nat Commun 8 (-) 15805 [2017-06-14; online 2017-06-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Genome Sequence of Roseovarius mucosus Strain SMR3, Isolated from a Culture of the Diatom Skeletonema marinoi.
Töpel M, Pinder MIM, ..., Godhe A, Clarke AK
Genome Announc 5 (22) - [2017-06-01; online 2017-06-01]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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A DNA methylation site within the KLF13 gene is associated with orexigenic processes based on neural responses and ghrelin levels.
Wiemerslage L, Islam R, ..., Benedict C, Schiöth HB
Int J Obes (Lond) 41 (6) 990-994 [2017-06-00; online 2017-02-14]
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A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
Klar J, Ali Z, ..., Baig SM, Dahl N
Eur J Hum Genet 25 (7) 848-853 [2017-06-00; online 2017-05-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Gene flow, ancient polymorphism, and ecological adaptation shape the genomic landscape of divergence among Darwin's finches
Han F, Lamichhaney S, ..., Andersson L, Webster MT
Genome Res. 27 (6) 1004-1015 [2017-06-00; online 2017-04-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
DOI Crossref
Separating the effects of forage source and field microbiota on silage fermentation quality and aerobic stability
Mogodiniyai Kasmaei K, Dicksved J, Spörndly R, Udén P
Grass Forage Sci - (-) - [2017-06-00; online 2016-06-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
A subcellular map of the human proteome.
Thul PJ, Åkesson L, ..., Uhlén M, Lundberg E
Science 356 (6340) - [2017-05-26; online 2017-05-11]
Bioinformatics Compute and Storage [Service] Cell Profiling [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Type 2 diabetes and obesity induce similar transcriptional reprogramming in human myocytes.
Väremo L, Henriksen TI, ..., Pedersen BK, Nielsen J
Genome Med 9 (1) 47 [2017-05-25; online 2017-05-25]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Genome Sequence of a Bovine Rhinitis B Virus Identified in Cattle in Sweden
Blomström AL, Oma V, ..., Berg M, Myrmel M
Genome Announc 5 (19) e00172-17 [2017-05-11; online 2017-05-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.
Eisfeldt J, Vezzi F, ..., Nilsson D, Lindstrand A
F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Spatially resolved transcriptome profiling in model plant species.
Giacomello S, Salmén F, ..., Street NR, Lundeberg J
NPLANTS 3 (-) 17061 [2017-05-08; online 2017-05-08]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Regulation of PfEMP1-VAR2CSA translation by a Plasmodium translation-enhancing factor.
Chan S, Frasch A, ..., Sanyal S, Wahlgren M
Nat Microbiol 2 (-) 17068 [2017-05-08; online 2017-05-08]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Two extended haplotype blocks are associated with adaptation to high altitude habitats in East African honey bees.
Wallberg A, Schöning C, Webster MT, Hasselmann M
PLoS Genet. 13 (5) e1006792 [2017-05-00; online 2017-05-25]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Transcriptomics and methylomics of CD4-positive T cells in arsenic-exposed women.
Engström K, Wojdacz TK, ..., Vahter M, Broberg K
Arch. Toxicol. 91 (5) 2067-2078 [2017-05-00; online 2016-11-12]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M, Bergendal B, ..., Nordgren A, Lindstrand A
Am. J. Med. Genet. A 173 (5) 1396-1399 [2017-05-00; online 2017-03-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications.
Weissensteiner MH, Pang AWC, ..., Suh A, Wolf JBW
Genome Res. 27 (5) 697-708 [2017-05-00; online 2017-03-30]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative]
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Induction of functional dopamine neurons from human astrocytes in vitro and mouse astrocytes in a Parkinson's disease model.
Rivetti di Val Cervo P, Romanov RA, ..., Fisone G, Arenas E
Nat. Biotechnol. 35 (5) 444-452 [2017-05-00; online 2017-04-10]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
The chloroplast genome of Ephedra foeminea (Ephedraceae, Gnetales), an entomophilous gymnosperm endemic to the Mediterranean area.
Hou C, Wikström N, Rydin C
Mitochondrial DNA A DNA Mapp Seq Anal 28 (3) 330-331 [2017-05-00; online 2015-12-29]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Does the sex of one's co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts.
Bogl LH, Jelenkovic A, ..., Silventoinen K, Kaprio J
Biol Sex Differ 8 (-) 14 [2017-04-27; online 2017-04-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Parallel adaptive evolution of geographically distant herring populations on both sides of the North Atlantic Ocean
Lamichhaney S, Fuentes-Pardo AP, ..., Ruzzante DE, Andersson L
Proc Natl Acad Sci USA 114 (17) E3452-E3461 [2017-04-25; online 2017-04-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
DOI Crossref
SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing
Raine A, Manlig E, ..., Syvänen AC, Nordlund J
Nucleic Acids Res 45 (6) e36-e36 [2017-04-07; online 2016-11-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development]
PubMed DOI Crossref
Draft Genome Sequences of Six Strains of Streptococcus pneumoniae from Serotypes 5, 6A, 6B, 18C, 19A, and 23F.
Jakobsson HE, Salvà-Serra F, ..., Kristiansson E, Moore ER
Genome Announc 5 (14) - [2017-04-06; online 2017-04-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
DOI Crossref
Complete Genome Sequences of the Xylose-Fermenting Candida intermedia Strains CBS 141442 and PYCC 4715
Moreno AD, Tellgren-Roth C, ..., Olsson L, Geijer C
Genome Announc 5 (14) e00138-17 [2017-04-06; online 2017-04-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Interactions of Freshwater Cyanobacteria with Bacterial Antagonists
Osman OA, Beier S, Grabherr M, Bertilsson S
Appl. Environ. Microbiol. 83 (7) e02634-16 [2017-04-01; online 2017-01-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies.
Ek WE, Ahsan M, ..., Gyllensten U, Johansson Å
Epigenomics 9 (4) 407-418 [2017-04-00; online 2017-03-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
Haapaniemi EM, Fogarty CL, ..., Seppänen M, Kere J
J. Allergy Clin. Immunol. 139 (4) 1391-1393.e11 [2017-04-00; online 2016-12-04]
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
Folkersen L, Fauman E, ..., Hamsten A, Mälarstig A
PLoS Genet. 13 (4) e1006706 [2017-04-00; online 2017-04-03]
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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, ..., Mäkitie O, Jüppner H
J. Bone Miner. Res. 32 (4) 776-783 [2017-04-00; online 2017-02-24]
Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Effects of dietary inclusion of the yeasts Saccharomyces cerevisiae and Wickerhamomyces anomalus on gut microbiota of rainbow trout
Huyben D, Nyman A, ..., Dicksved J, Lundh T
Aquaculture 473 (-) 528-537 [2017-04-00; online 2017-04-00]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Genomic analysis reveals the presence of a class D beta-lactamase with broad substrate specificity in animal bite associated Capnocytophaga species.
Zangenah S, Andersson AF, Özenci V, Bergman P
Eur. J. Clin. Microbiol. Infect. Dis. 36 (4) 657-662 [2017-04-00; online 2016-12-03]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Shift in fungal communities and associated enzyme activities along an age gradient of managed Pinus sylvestris stands
Kyaschenko J, Clemmensen KE, ..., Karltun E, Lindahl BD
ISME J 11 (4) 863-874 [2017-04-00; online 2017-01-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Whole-Genome Bisulfite Sequencing of Human Pancreatic Islets Reveals Novel Differentially Methylated Regions in Type 2 Diabetes Pathogenesis
Volkov P, Bacos K, ..., Rönn T, Ling C
Diabetes 66 (4) 1074-1085 [2017-04-00; online 2017-01-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Gene co-expression network connectivity is an important determinant of selective constraint.
Mähler N, Wang J, ..., Street NR, Hvidsten TR
PLoS Genet. 13 (4) e1006402 [2017-04-00; online 2017-04-13]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Genomic structure of the horse major histocompatibility complex class II region resolved using PacBio long-read sequencing technology
Viļuma A, Mikko S, ..., Andersson G, Bergström TF
Sci Rep 7 (-) 45518 [2017-03-31; online 2017-03-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Improvement of identification methods for honeybee specific Lactic Acid Bacteria; future approaches.
Lamei S, Hu YO, ..., Forsgren E, Vásquez A
PLoS ONE 12 (3) e0174614 [2017-03-27; online 2017-03-27]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Potential for hydrogen-oxidizing chemolithoautotrophic and diazotrophic populations to initiate biofilm formation in oligotrophic, deep terrestrial subsurface waters.
Wu X, Pedersen K, ..., Bertilsson S, Dopson M
Microbiome 5 (1) 37 [2017-03-23; online 2017-03-23]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Atrophin controls developmental signaling pathways via interactions with Trithorax-like
Yeung K, Boija A, ..., Mannervik M, McNeill H
Elife 6 (-) - [2017-03-22; online 2017-03-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Proteogenomics produces comprehensive and highly accurate protein-coding gene annotation in a complete genome assembly of Malassezia sympodialis.
Zhu Y, Engström PG, ..., Scheynius A, Lehtiö J
Nucleic Acids Res. 45 (5) 2629-2643 [2017-03-17; online 2017-01-20]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Chemical Proteomics & Proteogenomics [Technology development] Clinical Proteomics Mass spectrometry [Technology development] NGI Uppsala (Uppsala Genome Center) [Collaborative]
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PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
Pan G, Ameur A, ..., Gyllensten U, Wadelius C
Nucleic Acids Res. 45 (5) 2408-2422 [2017-03-17; online 2016-12-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] NGI Uppsala (Uppsala Genome Center) [Service]
DOI Crossref
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
Gudmundsson S, Wilbe M, ..., Törmä H, Bondeson ML
- 26 (6) 1070-1077 [2017-03-15; online 2017-02-01]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] PLA Proteomics [Service]
PubMed DOI Crossref
Microbial community assembly and evolution in subseafloor sediment
Starnawski P, Bataillon T, ..., Schramm A, Kjeldsen KU
Proc Natl Acad Sci USA 114 (11) 2940-2945 [2017-03-14; online 2017-02-27]
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PubMed DOI Crossref
Mating Changes Sexually Dimorphic Gene Expression in the Seed Beetle Callosobruchus maculatus.
Immonen E, Sayadi A, Bayram H, Arnqvist G
Genome Biol Evol 9 (3) 677-699 [2017-03-01; online 2017-04-10]
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PubMed DOI Crossref
Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.
Sarkisyan D, Bazov I, ..., Yakovleva T, Bakalkin G
Acta Neuropathol. 133 (3) 485-487 [2017-03-00; online 2017-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Antibody-encoding repertoires of bone marrow and peripheral blood-a focus on IgE.
Levin M, Levander F, ..., Greiff L, Ohlin M
J. Allergy Clin. Immunol. 139 (3) 1026-1030 [2017-03-00; online 2016-08-09]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites.
Bergmann AK, Castellano G, ..., Schrappe M, Siebert R
Pediatr Blood Cancer 64 (3) - [2017-03-00; online 2016-10-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development]
PubMed DOI Crossref
A genetic risk score is significantly associated with statin therapy response in the elderly population.
Ciuculete DM, Bandstein M, ..., Schiöth HB, Mwinyi J
Clin. Genet. 91 (3) 379-385 [2017-03-00; online 2016-12-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent in Ficedula Flycatcher Genome Sequences
Kardos M, Qvarnström A, Ellegren H
Genetics 205 (3) 1319-1334 [2017-03-00; online 2017-01-18]
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PubMed DOI Crossref
Metapopulation theory identifies biogeographical patterns among core and satellite marine bacteria scaling from tens to thousands of kilometers.
Lindh MV, Sjöstedt J, ..., Legrand C, Pinhassi J
Environ. Microbiol. 19 (3) 1222-1236 [2017-03-00; online 2017-02-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Clonal reversal of ageing-associated stem cell lineage bias via a pluripotent intermediate.
Wahlestedt M, Erlandsson E, ..., Martin-Gonzalez J, Bryder D
Nat Commun 8 (-) 14533 [2017-02-22; online 2017-02-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Covariation in levels of nucleotide diversity in homologous regions of the avian genome long after completion of lineage sorting
Dutoit L, Vijay N, ..., Wolf J, Ellegren H
Proc. R. Soc. B 284 (1849) 20162756 [2017-02-22; online 2017-02-15]
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Methane Production in Dairy Cows Correlates with Rumen Methanogenic and Bacterial Community Structure.
Danielsson R, Dicksved J, ..., Schnürer A, Bertilsson J
Front Microbiol 8 (-) 226 [2017-02-17; online 2017-02-17]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Comparison of whole genome amplification techniques for human single cell exome sequencing.
Borgström E, Paterlini M, ..., Frisen J, Lundeberg J
PLoS ONE 12 (2) e0171566 [2017-02-16; online 2017-02-16]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
The mitochondrial genome sequences of the round goby and the sand goby reveal patterns of recent evolution in gobiid fish.
Adrian-Kalchhauser I, Svensson O, ..., Blomberg A, Burkhardt-Holm P
BMC Genomics 18 (1) 177 [2017-02-16; online 2017-02-16]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
Power RA, Tansey KE, ..., Breen G, Lewis CM
Biol. Psychiatry 81 (4) 325-335 [2017-02-15; online 2016-08-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
DOI Crossref
Distinct Anaerobic Bacterial Consumers of Cellobiose-Derived Carbon in Boreal Fens with Different CO 2 /CH 4 Production Ratios
Juottonen H, Eiler A, ..., Yrjälä K, Fritze H
Appl. Environ. Microbiol. 83 (4) e02533-16 [2017-02-15; online 2016-12-02]
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The Baltic Sea Virome: Diversity and Transcriptional Activity of DNA and RNA Viruses.
Zeigler Allen L, McCrow JP, ..., Bergman B, Venter JC
mSystems 2 (1) - [2017-02-14; online 2017-02-14]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Rare and low-frequency coding variants alter human adult height.
Marouli E, Graff M, ..., Deloukas P, Lettre G
Nature 542 (7640) 186-190 [2017-02-09; online 2017-02-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Seasonal Variation in Abundance and Diversity of Bacterial Methanotrophs in Five Temperate Lakes
Samad MS, Bertilsson S
Front Microbiol 8 (-) - [2017-02-03; online 2017-02-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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Posttranscriptional Regulation in Adenovirus Infected Cells
Zhao H, Konzer A, ..., Pettersson U, Lind SB
J. Proteome Res. 16 (2) 872-888 [2017-02-03; online 2016-12-13]
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PubMed DOI Crossref
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy.
Dalin MG, Engström PG, ..., Andersson B, Bergo MO
Int. J. Cardiol. 228 (-) 742-748 [2017-02-01; online 2016-11-26]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.
Gianfrancesco MA, Glymour MM, ..., Alfredsson L, Barcellos LF
Am. J. Epidemiol. 185 (3) 162-171 [2017-02-01; online 2017-01-12]
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The Human Adrenal Gland Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Bergman J, Botling J, ..., Uhlén M, Pontén F
Endocrinology 158 (2) 239-251 [2017-02-01; online 2016-12-03]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] Tissue Profiling [Technology development]
PubMed DOI Crossref
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, ..., Müller TD, Hebebrand J
Mol. Psychiatry 22 (2) 192-201 [2017-02-00; online 2016-05-18]
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PubMed DOI Crossref
Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells.
Ullmark T, Järvstråt L, ..., Nilsson B, Gullberg U
Haematologica 102 (2) 336-345 [2017-02-00; online 2016-09-11]
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PubMed DOI Crossref
A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population.
Bonfiglio F, Hysi PG, ..., Schmidt PT, D'Amato M
Neurogastroenterol. Motil. 29 (2) - [2017-02-00; online 2016-08-04]
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Effects of microbe- and mussel-based diets on the gut microbiota in Arctic charr ( Salvelinus alpinus )
Nyman A, Huyben D, Lundh T, Dicksved J
Aquaculture Reports 5 (-) 34-40 [2017-02-00; online 2017-02-00]
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Novel seminal fluid proteins in the seed beetleCallosobruchus maculatusidentified by a proteomic and transcriptomic approach
Bayram H, Sayadi A, ..., Immonen E, Arnqvist G
Insect Mol Biol 26 (1) 58-73 [2017-02-00; online 2016-10-24]
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]
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Kapusta A, Suh A
Ann. N. Y. Acad. Sci. 1389 (1) 164-185 [2017-02-00; online 2016-12-20]
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig NC, Lüdecke HJ, ..., Kleefstra T, Wieczorek D
Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]
Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Activation of myeloid and endothelial cells by CD40L gene therapy supports T-cell expansion and migration into the tumor microenvironment
Eriksson E, Moreno R, ..., Alemany R, Loskog A
Gene Ther 24 (2) 92-103 [2017-02-00; online 2016-12-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Schmidt AF, Swerdlow DI, ..., UCLEB consortium , Sattar N
Lancet Diabetes Endocrinol 5 (2) 97-105 [2017-02-00; online 2016-12-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Meta-omic analyses of Baltic Sea cyanobacteria: diversity, community structure and salt acclimation.
Celepli N, Sundh J, ..., Bergman B, Ininbergs K
Environ. Microbiol. 19 (2) 673-686 [2017-02-00; online 2017-01-27]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Genomic analysis reveals major determinants ofcis-regulatory variation inCapsella grandiflora
Steige KA, Laenen B, ..., Scofield DG, Slotte T
Proc Natl Acad Sci USA 114 (5) 1087-1092 [2017-01-31; online 2017-01-17]
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Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, Tromp G, ..., Samani NJ, Bown MJ
Circ. Res. 120 (2) 341-353 [2017-01-20; online 2016-12-03]
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Novel genetic loci associated with hippocampal volume.
Hibar DP, Adams HH, ..., Thompson PM, Ikram MA
Nat Commun 8 (-) 13624 [2017-01-18; online 2017-01-18]
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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.
Ciuculete DM, Boström AE, ..., Mwinyi J, Schiöth HB
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
Zaremba-Niedzwiedzka K, Caceres EF, ..., Spang A, Ettema TJG
Nature 541 (7637) 353-358 [2017-01-11; online 2017-01-11]
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Comprehensive RNA sequencing of healthy human endometrium at two time points of the menstrual cycle.
Sigurgeirsson B, Åmark H, ..., Lundeberg J, Gidlöf S
Biol. Reprod. 96 (1) 24-33 [2017-01-01; online 2017-04-11]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Emerging microbiota during cold storage and temperature abuse of ready-to-eat salad​
Söderqvist K, Ahmed Osman O, ..., Vågsholm I, Boqvist S
Infect Ecol Epidemiol 7 (1) 1328963 [2017-01-00; online 2017-06-06]
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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, ..., Alarcón-Riquelme ME, Martín J
Ann. Rheum. Dis. 76 (1) 286-294 [2017-01-00; online 2016-05-20]
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Evolutionary engineering reveals divergent paths when yeast is adapted to different acidic environments.
Fletcher E, Feizi A, ..., Siewers V, Nielsen J
Metab. Eng. 39 (-) 19-28 [2017-01-00; online 2016-11-02]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Levy D, Deary IJ
PLoS Med. 14 (1) e1002215 [2017-01-00; online 2017-01-17]
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Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
Chu AY, Deng X, ..., Steinhauser ML, Fox CS
Nat. Genet. 49 (1) 125-130 [2017-01-00; online 2016-12-06]
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Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.
Hedman ÅK, Mendelson MM, ..., Levy D, Ingelsson E
Circ Cardiovasc Genet 10 (1) - [2017-01-00; online 2017-02-19]
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Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample.
Lind L, Ng E, ..., Morris AP, Lind PM
Environ Int 98 (-) 212-218 [2017-01-00; online 2016-11-15]
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P1.02-063 Mutation Profiling by Targeted Next-Generation Sequencing of an Unselected NSCLC Cohort
La Fleur L, Falk-Sorqvist E, ..., Moens L, Botling J
Journal of Thoracic Oncology 12 (1) S526-S527 [2017-01-00; online 2017-01-00]
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Investigating kinship of Neolithic post-LBK human remains from Krusza Zamkowa, Poland using ancient DNA.
Juras A, Chyleński M, ..., Jakobsson M, Dabert M
Forensic Sci Int Genet 26 (-) 30-39 [2017-01-00; online 2016-10-25]
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Meta-GWAS Accuracy and Power (MetaGAP) Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.
de Vlaming R, Okbay A, ..., Thurik AR, Koellinger PD
PLoS Genet. 13 (1) e1006495 [2017-01-00; online 2017-01-17]
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Contribution of different dispersal sources to the metabolic response of lake bacterioplankton following a salinity change.
Comte J, Langenheder S, Berga M, Lindström ES
Environ. Microbiol. 19 (1) 251-260 [2017-01-00; online 2016-11-22]
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VAV1 regulates experimental autoimmune arthritis and is associated with anti-CCP negative rheumatoid arthritis
Guerreiro-Cacais AO, None , ..., Kockum I, Padyukov L
Genes Immun 18 (1) 48-56 [2017-01-00; online 2017-01-05]
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Guo Y, Jahmat N, ..., Andersson G, Humblot P
Reprod. Fertil. Dev. 29 (1) 170 [2017-00-00; online 2017-00-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]

Year 2016

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, ..., Grabe HJ, Ingelsson E
Hum. Mol. Genet. 25 (24) 5472-5482 [2016-12-15; online 2016-10-06]
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Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
Ali Z, Klar J, ..., Baig S, Dahl N
J. Neurol. Sci. 371 (-) 105-111 [2016-12-15; online 2016-11-23]
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Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia.
Pandzic T, Larsson J, ..., Sjöblom T, Hellström M
Clin. Cancer Res. 22 (24) 6217-6227 [2016-12-15; online 2016-03-10]
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.
Eriksson D, Bianchi M, ..., Kämpe O, Pielberg GR
J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-04]
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Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N, Jansen R, ..., Snieder H, Mills MC
Nat. Genet. 48 (12) 1462-1472 [2016-12-00; online 2016-11-01]
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The disappearing San of southeastern Africa and their genetic affinities.
Schlebusch CM, Prins F, ..., Jakobsson M, Soodyall H
Hum. Genet. 135 (12) 1365-1373 [2016-12-00; online 2016-09-22]
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Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams HH, Hibar DP, ..., Ikram MA, Thompson PM
Nat. Neurosci. 19 (12) 1569-1582 [2016-12-00; online 2016-11-01]
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Distribution and expression of microbial rhodopsins in the Baltic Sea and adjacent waters.
Brindefalk B, Ekman M, ..., Pinhassi J, Bergman B
Environ. Microbiol. 18 (12) 4442-4455 [2016-12-00; online 2016-06-17]
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Coetzeea brasiliensis gen. nov., sp. nov. isolated from larvae of Anopheles darlingi.
Kämpfer P, Glaeser SP, ..., Busse HJ, Terenius O
Int. J. Syst. Evol. Microbiol. 66 (12) 5211-5217 [2016-12-00; online 2016-09-15]
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DNA methylation patterns associated with oxidative stress in an ageing population.
Hedman ÅK, Zilmer M, ..., Lind L, Ingelsson E
BMC Med Genomics 9 (1) 72 [2016-11-25; online 2016-11-25]
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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
Bergendal B, Norderyd J, ..., Klar J, Dahl N
BMC Med. Genet. 17 (1) 88 [2016-11-24; online 2016-11-24]
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The great spruce bark beetle (Dendroctonus micans Kug.) (Coleoptera: Scolytidae) in Lithuania: occurrence, phenology, morphology and communities of associated fungi.
Menkis A, Lynikienė J, ..., Gedminas A, Povilaitienė A
Bull. Entomol. Res. - (-) 1-8 [2016-11-22; online 2016-11-22]
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Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M, Diekmann L, ..., Naim HY, D'Amato M
Gut - (-) - [2016-11-21; online 2016-11-21]
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Complete Genome Sequence of an African Swine Fever Virus Isolate from Sardinia, Italy.
Granberg F, Torresi C, ..., De Mia GM, Belák S
Genome Announc 4 (6) - [2016-11-17; online 2016-11-17]
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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, ..., Renström F, Franks PW
Int J Epidemiol - (-) - [2016-11-17; online 2016-11-17]
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An automated approach to prepare tissue-derived spatially barcoded RNA-sequencing libraries.
Jemt A, Salmén F, ..., Yucel-Lindberg T, Lundeberg J
Sci Rep 6 (-) 37137 [2016-11-16; online 2016-11-16]
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Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
Matsson H, Söderhäll C, ..., Lundbäck B, Klar J
BMC Pulm Med 16 (1) 146 [2016-11-11; online 2016-11-11]
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Targeting SOX9 for degradation to inhibit chemoresistance, metastatic spread, and recurrence.
Suryo Rahmanto A, Swartling FJ, Sangfelt O
Mol Cell Oncol 4 (1) e1252871 [2016-11-08; online 2016-11-08]
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Long-term effects of tree harvesting on ectomycorrhizal fungal communities in boreal Scots pine forests
Varenius K, Kårén O, Lindahl B, Dahlberg A
Forest Ecology and Management 380 (-) 41-49 [2016-11-00; online 2016-11-00]
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Iotchkova V, Huang J, ..., Auer PL, Soranzo N
Nat. Genet. 48 (11) 1303-1312 [2016-11-00; online 2016-10-28]
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Acidithiobacillus ferrivorans SS3 presents little RNA transcript response related to cold stress during growth at 8 °C suggesting it is a eurypsychrophile.
Christel S, Fridlund J, Watkin EL, Dopson M
Extremophiles 20 (6) 903-913 [2016-11-00; online 2016-10-25]
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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, ..., Syvänen AC, Nordmark G
Ann. Rheum. Dis. 75 (11) 2029-2036 [2016-11-00; online 2016-02-10]
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Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia.
Teppo S, Laukkanen S, ..., Heinäniemi M, Lohi O
Genome Res. 26 (11) 1468-1477 [2016-11-00; online 2016-09-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
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Introduction and persistence of tularemia in Bulgaria.
Myrtennäs K, Marinov K, ..., Byström M, Forsman M
Infect Ecol Epidemiol 6 (-) 32838 [2016-10-26; online 2016-10-26]
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Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor.
Dahlin AM, Wibom C, ..., Andersson U, Melin B
PLoS ONE 11 (10) e0163067 [2016-10-25; online 2016-10-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Identification of mutations, gene expression changes and fusion transcripts by whole transcriptome RNAseq in docetaxel resistant prostate cancer cells.
Ma Y, Miao Y, ..., Nilsson S, Li C
Springerplus 5 (1) 1861 [2016-10-24; online 2016-10-24]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Prokaryotic Responses to Ammonium and Organic Carbon Reveal Alternative CO2 Fixation Pathways and Importance of Alkaline Phosphatase in the Mesopelagic North Atlantic.
Baltar F, Lundin D, ..., Herndl GJ, Pinhassi J
Front Microbiol 7 (-) 1670 [2016-10-21; online 2016-10-21]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Over Expression of NANOS3 and DAZL in Human Embryonic Stem Cells.
Panula S, Reda A, ..., Reijo Pera RA, Hovatta O
PLoS ONE 11 (10) e0165268 [2016-10-21; online 2016-10-21]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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The Transcriptome of Rhabdomyosarcoma Cells Infected with Cytolytic and Non-Cytolytic Variants of Coxsackievirus B2 Ohio-1.
Sävneby A, Luthman J, ..., Andersson B, Lindberg AM
PLoS ONE 11 (10) e0164548 [2016-10-19; online 2016-10-19]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Massive and parallel expression profiling using microarrayed single-cell sequencing.
Vickovic S, Ståhl PL, ..., Frisén J, Lundeberg J
Nat Commun 7 (-) 13182 [2016-10-14; online 2016-10-14]
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Penicillium arizonense, a new, genome sequenced fungal species, reveals a high chemical diversity in secreted metabolites.
Grijseels S, Nielsen JC, ..., Workman M, Frisvad JC
Sci Rep 6 (-) 35112 [2016-10-14; online 2016-10-14]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
Loley C, Alver M, ..., Erdmann J, König IR
Sci Rep 6 (-) 35278 [2016-10-12; online 2016-10-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Complete genome sequence of Methanoculleus bourgensis strain MAB1, the syntrophic partner of mesophilic acetate-oxidising bacteria (SAOB).
Manzoor S, Schnürer A, Bongcam-Rudloff E, Müller B
Stand Genomic Sci 11 (-) 80 [2016-10-12; online 2016-10-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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Virome characterisation from Guthrie cards in children who later developed acute lymphoblastic leukaemia.
Bogdanovic G, Pou C, ..., Andersson B, Gustafsson B
Br. J. Cancer 115 (8) 1008-1014 [2016-10-11; online 2016-08-24]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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The Demographic Development of the First Farmers in Anatolia.
Kılınç GM, Omrak A, ..., Jakobsson M, Götherström A
Curr. Biol. 26 (19) 2659-2666 [2016-10-10; online 2016-08-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Picodroplet partitioned whole genome amplification of low biomass samples preserves genomic diversity for metagenomic analysis.
Hammond M, Homa F, ..., Ettema TJ, Joensson HN
Microbiome 4 (1) 52 [2016-10-06; online 2016-10-06]
Bioinformatics Compute and Storage [Service] Microbial Single Cell Genomics [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells.
La Manno G, Gyllborg D, ..., Arenas E, Linnarsson S
Cell 167 (2) 566-580.e19 [2016-10-06; online 2016-10-08]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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MultiQC: summarize analysis results for multiple tools and samples in a single report.
Ewels P, Magnusson M, Lundin S, Käller M
Bioinformatics 32 (19) 3047-3048 [2016-10-01; online 2016-06-18]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Technology development]
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Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.
Jiao H, Kulyté A, ..., Arner P, Dahlman I
Diabetes 65 (10) 2980-2989 [2016-10-00; online 2016-07-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Surendran P, Drenos F, ..., Howson JM, Munroe PB
Nat. Genet. 48 (10) 1151-1161 [2016-10-00; online 2016-09-13]
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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, ..., Lönnerholm G, Syvänen AC
Epigenomics 8 (10) 1367-1387 [2016-10-00; online 2016-08-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development]
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Connectivity to the surface determines diversity patterns in subsurface aquifers of the Fennoscandian shield.
Hubalek V, Wu X, ..., Bertilsson S, Ionescu D
ISME J 10 (10) 2447-2458 [2016-10-00; online 2016-03-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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, ..., Ingelsson E, Fall T
PLoS Genet. 12 (10) e1006379 [2016-10-00; online 2016-10-21]
Bioinformatics Compute and Storage [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret GB, Ferreira T, ..., Newton-Cheh C, Munroe PB
Nat. Genet. 48 (10) 1171-1184 [2016-10-00; online 2016-09-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
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Clonality of erythromycin resistance in Francisella tularensis.
Karlsson E, Golovliov I, ..., Forsman M, Johansson A
J. Antimicrob. Chemother. 71 (10) 2815-2823 [2016-10-00; online 2016-06-24]
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PubMed DOI Crossref
Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness.
Strawbridge RJ, Hilding A, ..., Bäcklund A, IMPROVE Study Group
Diabetes 65 (10) 2888-2899 [2016-10-00; online 2016-09-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
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Personality Polygenes, Positive Affect, and Life Satisfaction.
Weiss A, Baselmans BM, ..., Bartels M, Luciano M
Twin Res Hum Genet 19 (5) 407-417 [2016-10-00; online 2016-08-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J, Zhao JJ, ..., Thuresson AC, Feuk L
J. Med. Genet. 53 (10) 697-704 [2016-10-00; online 2016-06-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.
Fall T, Salihovic S, ..., Ingelsson E, Lind L
Diabetologia 59 (10) 2114-2124 [2016-10-00; online 2016-07-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Genetic rescue in a severely inbred wolf population.
Åkesson M, Liberg O, ..., Bensch S, Flagstad Ø
Mol. Ecol. 25 (19) 4745-4756 [2016-10-00; online 2016-08-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Effects of multiple dimensions of bacterial diversity on functioning, stability and multifunctionality.
Roger F, Bertilsson S, ..., Osman OA, Gamfeldt L
Ecology 97 (10) 2716-2728 [2016-10-00; online 2016-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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, ..., Ingelsson E, Florez JC
Diabetes 65 (10) 3200-3211 [2016-10-00; online 2016-07-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Feralisation targets different genomic loci to domestication in the chicken.
Johnsson M, Gering E, ..., Friberg U, Wright D
Nat Commun 7 (-) 12950 [2016-09-30; online 2016-09-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Discovery of Novel Viruses in Mosquitoes from the Zambezi Valley of Mozambique.
Cholleti H, Hayer J, ..., Berg M, Blomström AL
PLoS ONE 11 (9) e0162751 [2016-09-28; online 2016-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [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, ..., Berglund EC, Syvänen AC
Oncotarget 7 (39) 64071-64088 [2016-09-27; online 2016-09-04]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [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, ..., Mugal CF, Ellegren H
Mol Ecol Resour 17 (4) 586-597 [2016-09-26; online 2016-09-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.
Wang J, Skoog T, ..., Kere J, Jiao H
Sci Rep 6 (-) 33256 [2016-09-16; online 2016-09-16]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion.
Einarsdottir E, Hafrén L, ..., Kere J, Mattila PS
Sci Rep 6 (-) 33240 [2016-09-16; online 2016-09-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction
Rask-Andersen M, Martinsson D, ..., Gyllensten U, Johansson Å
Hum. Mol. Genet. - (-) ddw302 [2016-09-15; online 2016-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Ferreira PG, Oti M, ..., Guigó R, Sammeth M
Sci Rep 6 (-) 32406 [2016-09-12; online 2016-09-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
Hannuksela M, Stattin EL, ..., Sörensen K, Carlberg B
BMC Med. Genet. 17 (1) 61 [2016-09-01; online 2016-09-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
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Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.
Mahajan A, Rodan AR, ..., Morris AP, Franceschini N
Am. J. Hum. Genet. 99 (3) 636-646 [2016-09-01; online 2016-09-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Direct estimate of the rate of germline mutation in a bird.
Smeds L, Qvarnström A, Ellegren H
Genome Res. 26 (9) 1211-1218 [2016-09-00; online 2016-07-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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Data on the expression of cellular lncRNAs in human adenovirus infected cells.
Chen M, Zhao H, Lind SB, Pettersson U
Data Brief 8 (-) 1263-1279 [2016-09-00; online 2016-08-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
A Genetic Risk Score Is Associated with Weight Loss Following Roux-en Y Gastric Bypass Surgery.
Bandstein M, Voisin S, ..., Mwinyi J, Schiöth HB
Obes Surg 26 (9) 2183-2189 [2016-09-00; online 2016-02-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
Zaghlool A, Halvardson J, ..., Thuresson AC, Feuk L
Hum. Mutat. 37 (9) 964-975 [2016-09-00; online 2016-06-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
A Rickettsiales symbiont of amoebae with ancient features.
Schulz F, Martijn J, ..., Ettema TJ, Horn M
Environ. Microbiol. 18 (8) 2326-2342 [2016-09-00; online 2015-04-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
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The Adipose Transcriptional Response to Insulin Is Determined by Obesity, Not Insulin Sensitivity.
Rydén M, Hrydziuszko O, ..., Daub CO, Arner P
Cell Rep 16 (9) 2317-2326 [2016-08-30; online 2016-08-23]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study.
van der Laan SW, Fall T, ..., Holmes MV, Asselbergs FW
J. Am. Coll. Cardiol. 68 (9) 934-945 [2016-08-30; online 2016-08-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.
Franzén O, Ermel R, ..., Schadt EE, Björkegren JL
Science 353 (6301) 827-830 [2016-08-19; online 2016-08-20]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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, ..., Milani L, Ingelman-Sundberg M
Nucleic Acids Res. 44 (14) 6756-6769 [2016-08-19; online 2016-04-29]
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Cellular Barcoding Links B-1a B Cell Potential to a Fetal Hematopoietic Stem Cell State at the Single-Cell Level.
Kristiansen TA, Jaensson Gyllenbäck E, ..., Bryder D, Yuan J
Immunity 45 (2) 346-357 [2016-08-16; online 2016-08-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, ..., Altshuler D, McCarthy MI
Nature 536 (7614) 41-47 [2016-08-04; online 2016-07-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
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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, ..., Mozaffarian D, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Fatty Acids and Outcomes Research Consortium (FORCe)
JAMA Intern Med 176 (8) 1155-1166 [2016-08-01; online 2016-07-01]
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On the reversibility of parasitism: adaptation to a free-living lifestyle via gene acquisitions in the diplomonad Trepomonas sp. PC1.
Xu F, Jerlström-Hultqvist J, ..., Svärd SG, Andersson JO
BMC Biol. 14 (-) 62 [2016-08-01; online 2016-08-01]
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PubMed DOI Crossref
Adaptation to different types of stress converge on mitochondrial metabolism.
Lahtvee PJ, Kumar R, Hallström BM, Nielsen J
Mol. Biol. Cell 27 (15) 2505-2514 [2016-08-01; online 2016-06-17]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Cui Y, Vyse TJ
Nat. Genet. 48 (8) 940-946 [2016-08-00; online 2016-07-12]
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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, ..., Yusuf S, Wadelius M
Pharmacogenomics 17 (13) 1425-1439 [2016-08-00; online 2016-08-04]
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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, ..., 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, ..., Wadelius C, Wadelius M
Pharmacogenomics 17 (12) 1305-1314 [2016-08-00; online 2016-02-06]
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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F, Costantini A, ..., Tüysüz B, Mäkitie O
J. Bone Miner. Res. 31 (8) 1577-1585 [2016-08-00; online 2016-03-19]
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Gormley P, Anttila V, ..., Nyholt DR, Palotie A
Nat. Genet. 48 (8) 856-866 [2016-08-00; online 2016-06-21]
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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, ..., Boomsma DI, Kaprio J
Am. J. Clin. Nutr. 104 (2) 371-379 [2016-08-00; online 2016-07-15]
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Remnants of marine bacterial communities can be retrieved from deep sediments in lakes of marine origin.
Langenheder S, Comte J, ..., Eiler A, Lindström ES
Environ Microbiol Rep 8 (4) 479-485 [2016-08-00; online 2016-03-02]
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Rapid Evolution of Genomic Imprinting in Two Species of the Brassicaceae.
Hatorangan MR, Laenen B, ..., Slotte T, Köhler C
Plant Cell 28 (8) 1815-1827 [2016-08-00; online 2016-07-29]
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PubMed DOI Crossref
Phytophthora infestans Argonaute 1 binds microRNA and small RNAs from effector genes and transposable elements.
Åsman AK, Fogelqvist J, Vetukuri RR, Dixelius C
New Phytol. 211 (3) 993-1007 [2016-08-00; online 2016-03-25]
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PubMed DOI Crossref
DNA Content in Extracellular Vesicles Isolated from Porcine Coronary Venous Blood Directly after Myocardial Ischemic Preconditioning.
Svennerholm K, Rodsand P, ..., Ronquist G, Haney M
PLoS ONE 11 (7) e0159105 [2016-07-19; online 2016-07-19]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service]
DOI Crossref
Abstract 2688: A forward genetics screen of murine brain tumors identifies novel candidate genes involved in gliomagenesis
Cancer M, Weishaupt H, ..., Ameur A, Swartling FJ
Cancer Res 76 (14 Supplement) 2688-2688 [2016-07-15; online 2016-07-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative]
DOI Crossref
Abstract 2473: Combined BET-bromodomain and CDK2 inhibition in MYC-driven medulloblastoma
Bolin S, Borgenvik A, ..., Weishaupt H, Swartling FJ
Cancer Res 76 (14 Supplement) 2473-2473 [2016-07-15; online 2016-07-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification.
Reischauer S, Stone OA, ..., Andersson O, Stainier DY
Nature 535 (7611) 294-298 [2016-07-14; online 2016-07-15]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Profiling cancer testis antigens in non-small-cell lung cancer.
Djureinovic D, Hallström BM, ..., Uhlén M, Micke P
JCI Insight 1 (10) e86837 [2016-07-07; online 2016-07-07]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] Tissue Profiling [Collaborative]
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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, ..., Lindgren G, Rubin CJ
G3 (Bethesda) 6 (7) 2213-2223 [2016-07-07; online 2016-05-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.
Kaartokallio T, Wang J, ..., Kere J, Laivuori H
Sci Rep 6 (-) 29085 [2016-07-07; online 2016-07-07]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Diversity and Expression of Bacterial Metacaspases in an Aquatic Ecosystem.
Asplund-Samuelsson J, Sundh J, ..., Ininbergs K, Ekman M
Front Microbiol 7 (-) 1043 [2016-07-06; online 2016-07-06]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [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, ..., Di Rienzo A, Warinner C
Proc. Natl. Acad. Sci. U.S.A. 113 (27) 7485-7490 [2016-07-05; online 2016-06-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (CIN3) identifies a new susceptibility locus.
Chen D, Enroth S, ..., Xu S, Gyllensten U
Oncotarget 7 (27) 42216-42224 [2016-07-05; online 2016-06-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Visualization and analysis of gene expression in tissue sections by spatial transcriptomics.
Ståhl PL, Salmén F, ..., Lundeberg J, Frisén J
Science 353 (6294) 78-82 [2016-07-01; online 2016-07-02]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Fluorescence Tissue Profiling [Collaborative] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Variation in Linked Selection and Recombination Drive Genomic Divergence during Allopatric Speciation of European and American Aspens.
Wang J, Street NR, Scofield DG, Ingvarsson PK
Mol. Biol. Evol. 33 (7) 1754-1767 [2016-07-00; online 2016-03-18]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes.
Olsson L, Zettermark S, ..., Paulsson K, Johansson B
Br. J. Haematol. 174 (2) 292-301 [2016-07-00; online 2016-03-31]
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PubMed DOI Crossref
Increasing the power of genome wide association studies in natural populations using repeated measures - evaluation and implementation.
Rönnegård L, McFarlane SE, ..., Ellegren H, Qvarnström A
Methods Ecol Evol 7 (7) 792-799 [2016-07-00; online 2016-02-05]
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PubMed DOI Crossref
A draft fur seal genome provides insights into factors affecting SNP validation and how to mitigate them.
Humble E, Martinez-Barrio A, ..., Wolf JB, Hoffman JI
Mol Ecol Resour 16 (4) 909-921 [2016-07-00; online 2015-12-20]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
An Integrative Genomic Analysis of Formalin Fixed Paraffin-Embedded Archived Serous Ovarian Carcinoma Comparing Long-term and Short-term Survivors.
Stålberg K, Crona J, ..., Skogseid B, Stålberg P
Int. J. Gynecol. Cancer 26 (6) 1027-1032 [2016-07-00; online 2016-05-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Conserved 33-kb haplotype in the MHC class III region regulates chronic arthritis.
Yau AC, Tuncel J, ..., Padyukov L, Holmdahl R
Proc. Natl. Acad. Sci. U.S.A. 113 (26) E3716-E3724 [2016-06-28; online 2016-06-16]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts.
Jelenkovic A, Sund R, ..., Kaprio J, Silventoinen K
Sci Rep 6 (-) 28496 [2016-06-23; online 2016-06-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Cryptosporidium as a testbed for single cell genome characterization of unicellular eukaryotes.
Troell K, Hallström B, ..., Beser J, Bertilsson S
BMC Genomics 17 (-) 471 [2016-06-23; online 2016-06-23]
Bioinformatics Compute and Storage [Service] Microbial Single Cell Genomics [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Oligodendrocyte heterogeneity in the mouse juvenile and adult central nervous system.
Marques S, Zeisel A, ..., Linnarsson S, Castelo-Branco G
Science 352 (6291) 1326-1329 [2016-06-10; online 2016-06-11]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Recommendations on e-infrastructures for next-generation sequencing.
Spjuth O, Bongcam-Rudloff E, ..., Vezzi F, Korpelainen E
Gigascience 5 (-) 26 [2016-06-07; online 2016-06-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development]
PubMed DOI Crossref
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.
Dumanski JP, Lambert JC, ..., Lind L, Forsberg LA
Am. J. Hum. Genet. 98 (6) 1208-1219 [2016-06-02; online 2016-05-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals.
Cavalli M, Pan G, ..., Wallerman O, Wadelius C
Genomics 107 (6) 248-254 [2016-06-00; online 2016-04-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
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, ..., van Duijn CM, Räikkönen K
Psychol Med 46 (8) 1613-1623 [2016-06-00; online 2016-03-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population.
Hallberg P, Eriksson N, ..., Wadelius M, EuDAC collaborators
Lancet Diabetes Endocrinol 4 (6) 507-516 [2016-06-00; online 2016-05-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
PubMed DOI Crossref
Epigenomics of Total Acute Sleep Deprivation in Relation to Genome-Wide DNA Methylation Profiles and RNA Expression.
Nilsson EK, Boström AE, Mwinyi J, Schiöth HB
OMICS 20 (6) 334-342 [2016-06-00; online 2016-06-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Okbay A, Baselmans BM, ..., Bartels M, Cesarini D
Nat. Genet. 48 (6) 624-633 [2016-06-00; online 2016-04-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
GPR44 is a pancreatic protein restricted to the human beta cell.
Hellström-Lindahl E, Danielsson A, ..., Johansson L, Eriksson O
Acta Diabetol 53 (3) 413-421 [2016-06-00; online 2015-10-14]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] Tissue Profiling [Collaborative]
DOI Crossref
Scolytus multistriatus associated with Dutch elm disease on the island of Gotland: phenology and communities of vectored fungi
Menkis A, Östbrant IL, ..., Balalaikins M, Vasaitis R
Mycol Progress 15 (6) - [2016-06-00; online 2016-05-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Ivansson EL, Megquier K, ..., Coates JR, Lindblad-Toh K
Proc. Natl. Acad. Sci. U.S.A. 113 (22) E3091-E3100 [2016-05-31; online 2016-05-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Thermotolerant yeasts selected by adaptive evolution express heat stress response at 30 °C.
Caspeta L, Chen Y, Nielsen J
Sci Rep 6 (-) 27003 [2016-05-27; online 2016-05-27]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
PubMed DOI Crossref
Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A, Beauchamp JP, ..., Cesarini D, Benjamin DJ
Nature 533 (7604) 539-542 [2016-05-26; online 2016-05-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Diversity of Pico- to Mesoplankton along the 2000 km Salinity Gradient of the Baltic Sea.
Hu YO, Karlson B, Charvet S, Andersson AF
Front Microbiol 7 (-) 679 [2016-05-12; online 2016-05-12]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Determining breast cancer histological grade from RNA-sequencing data.
Wang M, Klevebring D, ..., Grönberg H, Rantalainen M
Breast Cancer Res. 18 (1) 48 [2016-05-10; online 2016-05-10]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service]
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Unscrambling Cyanobacteria Community Dynamics Related to Environmental Factors.
Bertos-Fortis M, Farnelid HM, ..., Pinhassi J, Legrand C
Front Microbiol 7 (-) 625 [2016-05-09; online 2016-05-09]
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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, ..., Rosenquist R, Kanduri M
Epigenetics 11 (5) 335-343 [2016-05-03; online 2016-04-08]
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The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing.
Martinez Barrio A, Lamichhaney S, ..., Xu X, Andersson L
Elife 5 (-) - [2016-05-03; online 2016-05-03]
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Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.
Mehta D, Tropf FC, ..., Weiser M, Wu JQ
JAMA Psychiatry 73 (5) 497-505 [2016-05-01; online 2016-03-24]
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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, ..., 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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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, ..., Fredriksson R, Schiöth HB
Gene 581 (2) 139-145 [2016-05-01; online 2016-02-02]
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Distinct temporal changes in host cell lncRNA expression during the course of an adenovirus infection.
Zhao H, Chen M, Lind SB, Pettersson U
Virology 492 (-) 242-250 [2016-05-00; online 2016-03-24]
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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, ..., Strawbridge RJ, IMPROVE Study Group
Cytokine 81 (-) 1-9 [2016-05-00; online 2016-01-29]
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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, ..., Andersson U, Melin B
J. Neurooncol. 127 (3) 483-492 [2016-05-00; online 2016-02-04]
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High-Resolution Mapping of Crossover and Non-crossover Recombination Events by Whole-Genome Re-sequencing of an Avian Pedigree.
Smeds L, Mugal CF, Qvarnström A, Ellegren H
PLoS Genet. 12 (5) e1006044 [2016-05-00; online 2016-05-24]
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DNA-metabarcoding uncovers the diversity of soil-inhabiting fungi in the tropical island of Puerto Rico
Urbina H, Scofield DG, Cafaro M, Rosling A
Mycoscience 57 (3) 217-227 [2016-05-00; online 2016-05-00]
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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, ..., Bannasch D, Lindblad-Toh K
PLoS Genet. 12 (5) e1006000 [2016-05-00; online 2016-05-12]
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Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
Cavalli M, Pan G, ..., Lindblad Toh K, Wadelius C
Hum. Genet. 135 (5) 485-497 [2016-05-00; online 2016-03-20]
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Whole-genome resequencing of extreme phenotypes in collared flycatchers highlights the difficulty of detecting quantitative trait loci in natural populations.
Kardos M, Husby A, ..., Qvarnström A, Ellegren H
Mol Ecol Resour 16 (3) 727-741 [2016-05-00; online 2015-12-10]
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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Hytönen MK, Arumilli M, ..., Drögemüller C, Lohi H
PLoS Genet. 12 (5) e1006037 [2016-05-00; online 2016-05-17]
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Microbial metagenomes from three aquifers in the Fennoscandian shield terrestrial deep biosphere reveal metabolic partitioning among populations.
Wu X, Holmfeldt K, ..., Bertilsson S, Dopson M
ISME J 10 (5) 1192-1203 [2016-05-00; online 2015-10-21]
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Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg S, Naess K, ..., Wedell A, Wickström R
Eur. J. Paediatr. Neurol. 20 (3) 457-461 [2016-05-00; online 2016-03-16]
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Association mapping in Salix viminalis L. (Salicaceae) - identification of candidate genes associated with growth and phenology.
Hallingbäck HR, Fogelqvist J, ..., Berlin S, Rönnberg-Wästljung AC
Glob Change Biol Bioenergy 8 (3) 670-685 [2016-05-00; online 2015-07-29]
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Draft Genome Sequence ofStreptococcus gordoniiType Strain CCUG 33482T
Salvà-Serra F, Jakobsson HE, ..., Kristiansson E, Moore ERB
Genome Announc 4 (2) e00175-16 [2016-04-28; online 2016-03-24]
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A beak size locus in Darwin's finches facilitated character displacement during a drought.
Lamichhaney S, Han F, ..., Grant PR, Andersson L
Science 352 (6284) 470-474 [2016-04-22; online 2016-04-23]
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Spatio-Temporal Interdependence of Bacteria and Phytoplankton during a Baltic Sea Spring Bloom.
Bunse C, Bertos-Fortis M, ..., Pinhassi J, Legrand C
Front Microbiol 7 (-) 517 [2016-04-21; online 2016-04-21]
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Cytosolic splice isoform of Hsp70 nucleotide exchange factor Fes1 is required for the degradation of misfolded proteins in yeast.
Gowda NK, Kaimal JM, ..., Friedländer MR, Andréasson C
Mol. Biol. Cell 27 (8) 1210-1219 [2016-04-15; online 2016-02-26]
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The Mycobacterium phlei Genome: Expectations and Surprises.
Das S, Pettersson BM, ..., Bhattacharya A, Kirsebom LA
Genome Biol Evol 8 (4) 975-985 [2016-04-08; online 2016-03-05]
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CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array.
Marzouka NA, Nordlund J, ..., Syvänen AC, Carlsson Almlöf J
Bioinformatics 32 (7) 1080-1082 [2016-04-01; online 2015-11-11]
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Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.
Johansson Å, Eriksson N, ..., Wallentin L, PLATO Investigators
Hum. Mol. Genet. 25 (7) 1447-1456 [2016-04-01; online 2016-02-26]
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Global genome splicing analysis reveals an increased number of alternatively spliced genes with aging.
Rodríguez SA, Grochová D, ..., Erdos MR, Eriksson M
Aging Cell 15 (2) 267-278 [2016-04-00; online 2015-12-22]
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One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.
Magnusson PK, Lee D, ..., Feuk L, Pawitan Y
Twin Res Hum Genet 19 (2) 97-103 [2016-04-00; online 2016-02-24]
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Gene regulatory mechanisms underpinning prostate cancer susceptibility.
Whitington T, Gao P, ..., Wei GH, Wiklund F
Nat. Genet. 48 (4) 387-397 [2016-04-00; online 2016-03-08]
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Digital image analysis outperforms manual biomarker assessment in breast cancer.
Stålhammar G, Fuentes Martinez N, ..., Grunkin M, Hartman J
Mod. Pathol. 29 (4) 318-329 [2016-04-00; online 2016-02-27]
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Effect of PTPN22 Gene Variant R620W on Type I Interferon Production Stimulated by Different Toll-like Receptor 7 Agonists: Comment on the Article by Wang et al.
Berggren O, Rönnblom L, Eloranta ML
Arthritis & rheumatology (Hoboken, N.J.) 68 (4) 1045 [2016-04-00; online 2016-01-11]
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RNA transcript sequencing reveals inorganic sulfur compound oxidation pathways in the acidophile Acidithiobacillus ferrivorans.
Christel S, Fridlund J, ..., Watkin EL, Dopson M
FEMS Microbiol. Lett. 363 (7) - [2016-04-00; online 2016-03-10]
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The chemosensory receptors of codling moth Cydia pomonella-expression in larvae and adults.
Walker WB, Gonzalez F, Garczynski SF, Witzgall P
Sci Rep 6 (-) 23518 [2016-03-23; online 2016-03-23]
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VEGFR2 pY949 signalling regulates adherens junction integrity and metastatic spread.
Li X, Padhan N, ..., Jansson L, Claesson-Welsh L
Nat Commun 7 (-) 11017 [2016-03-23; online 2016-03-23]
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The Intestinal Eukaryotic Virome in Healthy and Diarrhoeic Neonatal Piglets.
Karlsson OE, Larsson J, ..., Berg M, Jacobson M
PLoS ONE 11 (3) e0151481 [2016-03-16; online 2016-03-16]
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Evolutionary history of host use, rather than plant phylogeny, determines gene expression in a generalist butterfly.
Celorio-Mancera Mde L, Wheat CW, ..., Nylin S, Janz N
BMC Evol. Biol. 16 (-) 59 [2016-03-08; online 2016-03-08]
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Whole genome sequencing identifies a novel species of the genus Capnocytophaga isolated from dog and cat bite wounds in humans.
Zangenah S, Abbasi N, Andersson AF, Bergman P
Sci Rep 6 (-) 22919 [2016-03-07; online 2016-03-07]
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Coordinated Changes in Gene Expression Throughout Encystation of Giardia intestinalis.
Einarsson E, Troell K, ..., Ribacke U, Svärd SG
PLoS Negl Trop Dis 10 (3) e0004571 [2016-03-00; online 2016-03-25]
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PSMC analysis of effective population sizes in molecular ecology and its application to black-and-white Ficedula flycatchers.
Nadachowska-Brzyska K, Burri R, Smeds L, Ellegren H
Mol. Ecol. 25 (5) 1058-1072 [2016-03-00; online 2016-01-23]
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Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Franke B, Stein JL, ..., Medland SE, Sullivan PF
Nat. Neurosci. 19 (3) 420-431 [2016-03-00; online 2016-02-09]
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Estimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma.
Fransson S, Östensson M, ..., Kogner P, Martinsson T
Int. J. Oncol. 48 (3) 1103-1116 [2016-03-00; online 2016-01-23]
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Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.
van den Berg SM, de Moor MH, ..., Martin NG, Boomsma DI
Behav. Genet. 46 (2) 170-182 [2016-03-00; online 2015-09-13]
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The influence of population structure on gene expression and flowering time variation in the ubiquitous weed Capsella bursa-pastoris (Brassicaceae).
Kryvokhyzha D, Holm K, ..., Lagercrantz U, Lascoux M
Mol. Ecol. 25 (5) 1106-1121 [2016-03-00; online 2016-01-23]
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Natural Selection and Recombination Rate Variation Shape Nucleotide Polymorphism Across the Genomes of Three Related Populus Species.
Wang J, Street NR, Scofield DG, Ingvarsson PK
Genetics 202 (3) 1185-1200 [2016-03-00; online 2016-01-02]
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T-cell receptor-HLA-DRB1 associations suggest specific antigens in pulmonary sarcoidosis.
Grunewald J, Kaiser Y, ..., Ronninger M, Eklund A
Eur. Respir. J. 47 (3) 898-909 [2016-03-00; online 2015-11-21]
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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, ..., Odeberg J, Emanuelsson O
Sci Rep 6 (-) 21134 [2016-02-18; online 2016-02-18]
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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, ..., Brooks SJ, Schiöth HB
Front Hum Neurosci 10 (-) 52 [2016-02-17; online 2016-02-17]
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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, ..., Eriksson E, Bongcam-Rudloff E
Infect Ecol Epidemiol 6 (-) 30246 [2016-02-16; online 2016-02-16]
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Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15.
Ek WE, Hedman ÅK, ..., Lind L, Johansson Å
Hum. Mol. Genet. 25 (4) 817-827 [2016-02-15; online 2015-12-19]
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Exome sequencing in one family with gastric- and rectal cancer.
Thutkawkorapin J, Picelli S, ..., Nilsson D, Lindblom A
BMC Genet. 17 (-) 41 [2016-02-13; online 2016-02-13]
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Xenacoelomorpha is the sister group to Nephrozoa.
Cannon JT, Vellutini BC, ..., Jondelius U, Hejnol A
Nature 530 (7588) 89-93 [2016-02-04; online 2016-02-06]
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.
Lu Y, Day FR, ..., Kilpeläinen TO, Loos RJ
Nat Commun 7 (-) 10495 [2016-02-01; online 2016-02-01]
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Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Kilpeläinen TO, Carli JF, ..., Leibel RL, Loos RJ
Nat Commun 7 (-) 10494 [2016-02-01; online 2016-02-01]
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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]
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Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing.
Bergfors A, Leenheer D, ..., Ameur A, Lennerstrand J
Antiviral Res. 126 (-) 81-89 [2016-02-00; online 2015-12-29]
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Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.
Cheng YC, Stanne TM, ..., Saleheen D, Mitchell BD
Stroke 47 (2) 307-316 [2016-02-00; online 2016-01-07]
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Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.
Imsland F, McGowan K, ..., Barsh GS, Andersson L
Nat. Genet. 48 (2) 152-158 [2016-02-00; online 2015-12-23]
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Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content.
Pekar G, Davies H, ..., Dumanski J, Tot T
Histopathology 68 (3) 411-421 [2016-02-00; online 2015-06-18]
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Analyses of the ash dieback pathogen,Hymenoscyphus fraxineus, suggest role of tree species diversity on colonization and population structure differentiation
Nguyen DT, Cleary MR, ..., Berlin A, Stenlid J
For. Path. 46 (1) 82-84 [2016-02-00; online 2015-10-28]
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Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.
Choi SH, Ruggiero D, ..., Seshadri S, Ciullo M
PLoS Genet. 12 (2) e1005874 [2016-02-00; online 2016-02-24]
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Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.
Massinen S, Wang J, ..., Jiao H, Kere J
J Neurodev Disord 8 (-) 4 [2016-01-27; online 2016-01-27]
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Genomic Evidence Establishes Anatolia as the Source of the European Neolithic Gene Pool.
Omrak A, Günther T, ..., Jakobsson M, Götherström A
Curr. Biol. 26 (2) 270-275 [2016-01-25; online 2016-01-11]
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, ..., Kao WH, Fox CS
Nat Commun 7 (-) 10023 [2016-01-21; online 2016-01-21]
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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]
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Using Whole-Exome Sequencing to Identify Genetic Markers for Carboplatin and Gemcitabine-Induced Toxicities
Green H, Hasmats J, ..., Peterson C, Lundeberg J
Clin. Cancer Res. 22 (2) 366-373 [2016-01-15; online 2015-09-16]
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A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
de Vries PS, Chasman DI, ..., Strachan DP, Dehghan A
Hum. Mol. Genet. 25 (2) 358-370 [2016-01-15; online 2015-11-13]
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Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.
Johansson MM, Lundin E, ..., Nilsson M, Jazin E
Biol Sex Differ 7 (-) 5 [2016-01-12; online 2016-01-12]
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Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.
Sayyab S, Viluma A, ..., Andersson G, Bergström TF
G3 (Bethesda) 6 (3) 521-527 [2016-01-08; online 2016-01-08]
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F11 is associated with recurrent VTE in women. A prospective cohort study.
Bruzelius M, Ljungqvist M, ..., Lärfars G, Odeberg J
Thromb. Haemost. 115 (2) 406-414 [2016-01-00; online 2015-10-02]
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An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis.
Jiang X, Källberg H, ..., Padyukov L, Alfredsson L
Rheumatology (Oxford) 55 (1) 149-155 [2016-01-00; online 2015-08-15]
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Adaptive radiation of Darwin's finches revisited using whole genome sequencing.
Almén MS, Lamichhaney S, ..., Webster MT, Andersson L
Bioessays 38 (1) 14-20 [2016-01-00; online 2015-11-26]
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Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Hammarsjö A, Nordgren A, ..., Nishimura G, Grigelioniene G
Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]
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Gene-Environment Interplay in Physical, Psychological, and Cognitive Domains in Mid to Late Adulthood: Is APOE a Variability Gene?
Reynolds CA, Gatz M, ..., 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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.
Marincevic-Zuniga Y, Zachariadis V, ..., Syvänen AC, Nordlund J
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative]
PubMed DOI Crossref
Protein Biomarkers for Insulin Resistance and Type 2 Diabetes Risk in Two Large Community Cohorts.
Nowak C, Sundström J, ..., Ingelsson E, Fall T
Diabetes 65 (1) 276-284 [2016-01-00; online 2015-10-01]
Bioinformatics Compute and Storage [Service] Clinical Biomarkers NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
G×E Interaction Influences Trajectories of Hand Grip Strength.
Petersen I, Pedersen NL, ..., Krueger RF, Reynolds C
Behav. Genet. 46 (1) 20-30 [2016-01-00; online 2015-09-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax).
Lamichhaney S, Fan G, ..., Liu X, Andersson L
Nat. Genet. 48 (1) 84-88 [2016-01-00; online 2015-11-17]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure NGI Uppsala (SNP&SEQ Technology Platform) [Service]

Year 2015

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, ..., Jensen P, Wright D
G3 (Bethesda) 6 (2) 311-319 [2015-12-04; online 2015-12-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]
PubMed DOI Crossref
Complete Genome Sequence of Francisella guangzhouensis Strain 08HL01032T, Isolated from Air-Conditioning Systems in China.
Svensson D, Öhrman C, ..., Forsman M, Sjödin A
Genome Announc 3 (2) - [2015-03-19; online 2015-03-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.
Cavelier L, Ameur A, ..., Olsson-Strömberg U, Hermanson M
BMC Cancer 15 (-) 45 [2015-02-12; online 2015-02-12]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) [Service]

Year 2014

PubMed DOI Crossref
Complete Genome Sequence of Francisella endociliophora Strain FSC1006, Isolated from a Laboratory Culture of the Marine Ciliate Euplotes raikovi.
Sjödin A, Ohrman C, ..., Stenberg P, Thelaus J
Genome Announc 2 (6) - [2014-11-26; online 2014-11-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service]
PubMed DOI Crossref
Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication.
Carneiro M, Rubin CJ, ..., Lindblad-Toh K, Andersson L
Science 345 (6200) 1074-1079 [2014-08-29; online 2014-08-30]
Bioinformatics Compute and Storage NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production)

Year 2013

PubMed DOI Crossref
The Norway spruce genome sequence and conifer genome evolution.
Nystedt B, Street NR, ..., Lundeberg J, Jansson S
Nature 497 (7451) 579-584 [2013-05-30; online 2013-05-24]
Bioinformatics Compute and Storage Bioinformatics Support and Infrastructure NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production)
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