NGI Uppsala (SNP&SEQ Technology Platform)

JSON
CSV
XLSX

Publications

2021 (24)

2020 (592)

2019 (746)

2018 (664)

2017 (705)

2016 (673)

2015 (434)

2014 (376)

2013 (320)

2012 (243)

2011 (163)

2010 (139)

1989 (1)

All (5080)


Facilities

Journals

SciLifeLab National facility since 2013.

1174 publications

Year 2021

DOI Crossref
The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals
Strawbridge RJ, Johnston KJA, Bailey MES, ..., Sennblad B, Smith DJ
Sci Rep 11 (1) - [2021-12-00; online 2021-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Combined removal of organic micropollutants and ammonium in reactive barriers developed for managed aquifer recharge
Modrzyński JJ, Aamand J, Wittorf L, ..., Hallin S, Albers CN
Water Research 190 (-) 116669 [2021-02-00; online 2021-02-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease
Crawford AA, None , Bankier S, ..., Smith GD, Walker BR
J. Hum. Genet. - (-) - [2021-01-20; online 2021-01-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan
van Dongen J, None , Hagenbeek FA, ..., Bartels M, Boomsma DI
Mol. Psychiatry - (-) - [2021-01-08; online 2021-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, ..., Prokopenko I, Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)
pii: 10.1038/s41467-020-19366-9
Nat Commun 12 (1) 24 [2021-01-05; online 2021-01-05]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Post-treatment of dewatered digested sewage sludge by thermophilic high-solid digestion for pasteurization with positive energy output
Nordell E, Moestedt J, Österman J, ..., Sun L, Schnürer A
Waste Management 119 (-) 11-21 [2021-01-00; online 2021-01-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2020

PubMed DOI Crossref
You Had Me at "MAGIC"!: Four Barley MAGIC Populations Reveal Novel Resistance QTL for Powdery Mildew.
Novakazi F, Krusell L, Jensen JD, ..., Jahoor A, Bengtsson T
pii: genes11121512
Genes 11 (12) - [2020-12-18; online 2020-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Rydzanicz M, Olszewski P, Kedra D, ..., Dumanski JP, Płoski R
Mol Genet Genomic Med - (-) e1526 [2020-12-14; online 2020-12-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Hodgkin Lymphoma Monozygotic Triplets Reveal Divergences in DNA Methylation Signatures
Xia C, Olsen TK, Zirakzadeh AA, ..., Björkholm M, Strååt K
Front Oncol 10 (-) - [2020-12-09; online 2020-12-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
A shotgun metagenomic investigation of the microbiota of udder cleft dermatitis in comparison to healthy skin in dairy cows
Ekman L, Bagge E, Nyman A, ..., Pringle M, Segerman B
PLoS ONE 15 (12) e0242880 [2020-12-02; online 2020-12-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP
Nat Commun 11 (1) - [2020-12-00; online 2020-04-15]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
DOI Crossref
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
van Zuydam NR, Ladenvall C, Voight BF, ..., Jablonka B, Brosnan MJ
Circ Genom Precis Med 13 (6) - [2020-12-00; online 2020-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Tissue-specific patterns of regulatory changes underlying gene expression differences among Ficedula flycatchers and their naturally occurring F1 hybrids
Mugal CF, Wang M, Backström N, ..., Qvarnström A, Ellegren H
Genome Res. 30 (12) 1727-1739 [2020-12-00; online 2020-11-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An efficient single-cell transcriptomics workflow for microbial eukaryotes benchmarked on Giardia intestinalis cells
Onsbring H, Tice AK, Barton BT, Brown MW, Ettema TJG
BMC Genomics 21 (1) 448 [2020-12-00; online 2020-06-29]
Microbial Single Cell Genomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transitions in wheat endosperm metabolism upon transcriptional induction of oil accumulation by oat endosperm WRINKLED1
Grimberg Å, Wilkinson M, Snell P, ..., Shewry P, Hofvander P
BMC Plant Biol. 20 (1) - [2020-12-00; online 2020-05-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The regulation and pharmacological modulation of immune complex induced type III IFN production by plasmacytoid dendritic cells
Hjorton K, Hagberg N, Pucholt P, Eloranta ML, Rönnblom L
Arthritis Res. Ther. 22 (1) - [2020-12-00; online 2020-06-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Antimicrobial peptide and sequence variation along a latitudinal gradient in two anurans
Cortázar-Chinarro M, Meyer-Lucht Y, Van der Valk T, ..., Laurila A, Höglund J
BMC Genet. 21 (1) - [2020-12-00; online 2020-03-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
Klar J, Engstrand-Lilja H, Maqbool K, ..., Feuk L, Dahl N
BMC Med Genomics 13 (1) - [2020-12-00; online 2020-06-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evaluation of the efficiency of genomic versus pedigree predictions for growth and wood quality traits in Scots pine
Calleja-Rodriguez A, Pan J, Funda T, ..., Abrahamsson S, Wu HX
BMC Genomics 21 (1) 796 [2020-12-00; online 2020-11-16]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Integrative genomics approach identifies molecular features associated with early-stage ovarian carcinoma histotypes
Engqvist H, Parris TZ, Biermann J, ..., Karlsson P, Helou K
Sci Rep 10 (1) - [2020-12-00; online 2020-05-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer
Rendo V, Kundu S, Rameika N, ..., Stoimenov I, Sjöblom T
Sci Rep 10 (1) - [2020-12-00; online 2020-12-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Building de novo reference genome assemblies of complex eukaryotic microorganisms from single nuclei
Montoliu-Nerin M, Sánchez-García M, Bergin C, ..., Johannesson H, Rosling A
Sci Rep 10 (1) - [2020-12-00; online 2020-01-28]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Combining transcriptomics and genetic linkage based information to identify candidate genes associated with Heterobasidion-resistance in Norway spruce
Chaudhary R, Lundén K, Dalman K, ..., Stenlid J, Elfstrand M
Sci Rep 10 (1) - [2020-12-00; online 2020-07-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
von der Heyde B, Emmanouilidou A, Mazzaferro E, ..., Brooke HL, den Hoed M
Sci Rep 10 (1) 11831 [2020-12-00; online 2020-07-16]
BioImage Informatics Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Genome Engineering Zebrafish [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes
Etemadikhah M, Niazi A, Wetterberg L, Feuk L
Sci Rep 10 (1) - [2020-12-00; online 2020-01-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Disturbance history can increase functional stability in the face of both repeated disturbances of the same type and novel disturbances
Renes SE, Sjöstedt J, Fetzer I, Langenheder S
Sci Rep 10 (1) - [2020-12-00; online 2020-07-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
BMP signaling is a therapeutic target in ovarian cancer
Fukuda T, Fukuda R, Tanabe R, ..., Miyazono K, Heldin CH
Cell Death Discov 6 (1) - [2020-12-00; online 2020-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education
Jelenkovic A, Sund R, Yokoyama Y, ..., Kaprio J, Silventoinen K
Sci Rep 10 (1) - [2020-12-00; online 2020-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
Mathioudaki A, Ljungström V, Melin M, ..., Sjöblom T, Lindblad-Toh K
Sci Rep 10 (1) - [2020-12-00; online 2020-11-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Morphological characters and SNP markers suggest hybridization and introgression in sympatric populations of the pleurocarpous mosses Homalothecium lutescens and H. sericeum
Sawangproh W, Lang AS, Hedenäs L, Cronberg N
Org Divers Evol 20 (4) 619-637 [2020-12-00; online 2020-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
The conifer root rot pathogens Heterobasidion irregulare and Heterobasidion occidentale employ different strategies to infect Norway spruce
Hu Y, Elfstrand M, Stenlid J, Durling MB, Olson Å
Sci Rep 10 (1) - [2020-12-00; online 2020-04-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion
Almeida P, Proux-Wera E, Churcher A, ..., Berlin S, Mank JE
BMC Biol. 18 (1) - [2020-12-00; online 2020-06-30]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Discovery and population genomics of structural variation in a songbird genus
Weissensteiner MH, Bunikis I, Catalán A, ..., Warmuth VM, Wolf JBW
Nat Commun 11 (1) - [2020-12-00; online 2020-07-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.
Maroteau C, Siddiqui MK, Veluchamy A, ..., Palmer CNA, PREDICTION-ADR
Clin. Pharmacol. Ther. 108 (6) 1195-1202 [2020-12-00; online 2020-07-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
Ntalla I, Weng LC, Cartwright JH, ..., Lubitz SA, Munroe PB
Nat Commun 11 (1) - [2020-12-00; online 2020-05-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Using null models to compare bacterial and microeukaryotic metacommunity assembly under shifting environmental conditions
Vass M, Székely AJ, Lindström ES, Langenheder S
Sci Rep 10 (1) - [2020-12-00; online 2020-02-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
Sakthikumar S, Roy A, Haseeb L, ..., Lindblad-Toh K, Forsberg-Nilsson K
Genome Biol. 21 (1) - [2020-12-00; online 2020-06-09]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptional responses in Parascaris univalens after in vitro exposure to ivermectin, pyrantel citrate and thiabendazole
Martin F, Dube F, Karlsson Lindsjö O, ..., Bergström TF, Tydén E
Parasit Vectors 13 (1) - [2020-12-00; online 2020-07-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Surendran P, None , Feofanova EV, ..., None , None
Nat Genet 52 (12) 1314-1332 [2020-12-00; online 2020-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL
BMC Med. Genet. 21 (1) 90 [2020-12-00; online 2020-05-05]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Single nucleus transcriptomics data integration recapitulates the major cell types in human liver
Diamanti K, Inda Díaz JS, Raine A, ..., Wadelius C, Cavalli M
Hepatol Res - (-) - [2020-11-28; online 2020-11-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Role of H1 and DNA methylation in selective regulation of transposable elements during heat stress
Liu S, Jonge J, Trejo‐Arellano MS, ..., Köhler C, Hennig L
New Phytol - (-) - [2020-11-22; online 2020-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Association between Aquatic Micropollutant Dissipation and River Sediment Bacterial Communities
Coll C, Bier R, Li Z, ..., Gorokhova E, Sobek A
Environ. Sci. Technol. 54 (22) 14380-14392 [2020-11-17; online 2020-10-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential DNA methylation of the genes for amyloid precursor protein, tau and neurofilaments in human traumatic brain injury.
Abu Hamdeh S, Ciuculete DM, Sarkisyan D, ..., Schiöth H, Marklund N
J. Neurotrauma - (-) - [2020-11-15; online 2020-11-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world’s largest rodent
Herrera-Álvarez S, Karlsson E, Ryder OA, Lindblad-Toh K, Crawford AJ
Mol. Biol. Evol. - (-) - [2020-11-10; online 2020-11-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of candidate genetic variants and altered protein expression in neural stem and mature neural cells support altered microtubule function to be an essential component in bipolar disorder.
Truvé K, Parris TZ, Vizlin-Hodzic D, ..., Ågren H, Funa K
pii: 10.1038/s41398-020-01056-1 pmc: PMC7652854
Transl Psychiatry 10 (1) 390 [2020-11-09; online 2020-11-09]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft Genome Assembly of the Freshwater Apex Predator Wels Catfish ( Silurus glanis) Using Linked-Read Sequencing.
Ozerov MY, Flajšhans M, Noreikiene K, Vasemägi A, Gross R
pii: g3.120.401711 pmc: PMC7642921
G3 (Bethesda) 10 (11) 3897-3906 [2020-11-05; online 2020-11-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Putative Epigenetic Biomarkers of Stress in Red Blood Cells of Chickens Reared Across Different Biomes.
Pértille F, Ibelli AMG, Sharif ME, ..., Guerrero-Bosagna C, Coutinho LL
pmc: PMC7667380
Front Genet 11 (-) 508809 [2020-11-02; online 2020-11-02]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Pericyte dysfunction due to Shb gene deficiency increases B16F10 melanoma lung metastasis
He Q, Li X, He L, ..., Betsholtz C, Welsh M
Int. J. Cancer 147 (9) 2634-2644 [2020-11-00; online 2020-05-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Sahelian pastoralism from the perspective of variants associated with lactase persistence
Priehodová E, Austerlitz F, Čížková M, ..., Schlebusch CM, Černý V
Am J Phys Anthropol 173 (3) 423-436 [2020-11-00; online 2020-08-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
Gorski M, Jung B, Li Y, ..., Pattaro C, Heid IM
pii: S0085-2538(20)31239-4
Kidney Int. - (-) - [2020-10-30; online 2020-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
DNA methylation in canine brains is related to domestication and dog-breed formation
Sundman AS, Pértille F, Lehmann Coutinho L, ..., Guerrero-Bosagna C, Jensen P
PLoS ONE 15 (10) e0240787 [2020-10-29; online 2020-10-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Intra-Individual Behavioural Variability: A Trait under Genetic Control
Henriksen R, Höglund A, Fogelholm J, ..., Dingemanse NJ, Wright D
Int J Mol Sci 21 (21) 8069 [2020-10-29; online 2020-10-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Microbiomes in a manganese oxide producing ecosystem in the Ytterby mine, Sweden: impact on metal mobility
Sjöberg S, Stairs CW, Allard B, ..., Ettema TJG, Dupraz C
FEMS Microbiol. Ecol. 96 (11) - [2020-10-28; online 2020-08-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
Lundtoft C, Pucholt P, Imgenberg-Kreuz J, ..., Rönnblom L, Hagberg N
pii: PGENETICS-D-20-01001
PLoS Genet. 16 (10) e1009199 [2020-10-26; online 2020-10-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polycomb Repressive Complex 2-mediated histone modification H3K27me3 is associated with embryogenic potential in Norway spruce.
Nakamura M, Batista RA, Köhler C, Hennig L
pii: 5902563 pmc: PMC7586741
J. Exp. Bot. 71 (20) 6366-6378 [2020-10-22; online 2020-09-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study.
Castaldo L, Laguzzi F, Strawbridge RJ, ..., Mälarstig A, Gigante B
pii: genes11111243
Genes 11 (11) - [2020-10-22; online 2020-10-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
Sandling JK, Pucholt P, Hultin Rosenberg L, ..., Rönnblom L, None
Ann Rheum Dis 80 (1) annrheumdis-2020-218636 [2020-10-09; online 2020-10-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Divergence and Remarkable Diversity of the Y Chromosome in Guppies
Almeida P, Sandkam BA, Morris J, ..., Breden F, Mank JE
Mol. Biol. Evol. - (-) - [2020-10-06; online 2020-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens
Schlebusch CM, Sjödin P, Breton G, ..., Soodyall H, Jakobsson M
Mol. Biol. Evol. 37 (10) 2944-2954 [2020-10-01; online 2020-07-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians
Sjöstrand AE, Sjödin P, Hegay T, ..., Heyer E, Jakobsson M
Eur J Hum Genet - (-) - [2020-10-01; online 2020-10-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole genome sequencing of apparently mutation-negative MEN1 patients
Backman S, Bajic D, Crona J, ..., Skogseid B, Stålberg P
Eur. J. Endocrinol. 182 (1) 35-45 [2020-10-00; online 2019-10-00]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Folkersen L, Gustafsson S, Wang Q, ..., Ingelsson E, Mälarstig A
Nat Metab 2 (10) 1135-1148 [2020-10-00; online 2020-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Streamlined and Abundant Bacterioplankton Thrive in Functional Cohorts
Mondav R, Bertilsson S, Buck M, ..., Lindström ES, Garcia SL
mSystems 5 (5) - [2020-09-29; online 2020-09-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Toll-like receptors revisited; a possible role for TLR1 in lupus nephritis
Yavuz S, Bianchi M, Kozyrev S, ..., Lindblad-Toh K, Rönnblom L
Ann Rheum Dis - (-) annrheumdis-2020-218373 [2020-09-29; online 2020-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Angiotensin-converting enzyme 2 (ACE2) levels in relation to risk factors for COVID-19 in two large cohorts of patients with atrial fibrillation
Wallentin L, Lindbäck J, Eriksson N, ..., Oldgren J, Siegbahn A
- - (-) - [2020-09-27; online 2020-09-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Small-scale population divergence is driven by local larval environment in a temperate amphibian
Rödin-Mörch P, Palejowski H, Cortazar-Chinarro M, ..., Höglund J, Laurila A
Heredity - (-) - [2020-09-21; online 2020-09-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Diversity and Abundance of Microbial Communities in UASB Reactors during Methane Production from Hydrolyzed Wheat Straw and Lucerne
Liu T, Schnürer A, Björkmalm J, Willquist K, Kreuger E
Microorganisms 8 (9) 1394 [2020-09-11; online 2020-09-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity
Yaghootkar H, Zhang Y, Spracklen CN, ..., Loos RJ, Kilpeläinen TO
Diabetes - (-) db200070 [2020-09-11; online 2020-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences
Svensson D, Rentoft M, Dahlin AM, ..., Trygg J, Johansson E
PLoS ONE 15 (9) e0237721 [2020-09-11; online 2020-09-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
A genome‐wide association study revealed five SNPs affecting 8‐month weight in sheep
Pasandideh M, Gholizadeh M, Rahimi‐Mianji G
Anim Genet - (-) - [2020-09-10; online 2020-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
River biofilms adapted to anthropogenic disturbances are more resistant to WWTP inputs
Freixa A, Perujo N, Langenheder S, Romaní AM
FEMS Microbiol. Ecol. 96 (9) - [2020-09-01; online 2020-08-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Brain transcriptomics of wild and domestic rabbits suggests that changes in dopamine signalling and ciliary function contributed to evolution of tameness
Sato DX, Rafati N, Ring H, ..., Carneiro M, Andersson L
Genome Biol Evol 12 (10) 1918-1928 [2020-08-24; online 2020-08-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High Cysteine Membrane Proteins (HCMPs) Are Up-Regulated During Giardia-Host Cell Interactions.
Peirasmaki D, Ma'ayeh SY, Xu F, ..., Liu J, Svärd SG
pmc: PMC7461913
Front Genet 11 (-) 913 [2020-08-18; online 2020-08-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.
Poveda A, Atabaki-Pasdar N, Ahmad S, ..., Renström F, Franks PW
J Am Heart Assoc 9 (16) e014513 [2020-08-18; online 2020-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Ramos J, Proven M, Halvardson J, ..., Thuresson AC, Fu D
RNA 26 (11) rna.076380.120 [2020-08-06; online 2020-08-06]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Archaea in boreal Swedish lakes are diverse, dominated by Woesearchaeota and follow deterministic community assembly
Juottonen H, Fontaine L, Wurzbacher C, ..., Peura S, Eiler A
Environ Microbiol 22 (8) 3158-3171 [2020-08-00; online 2020-06-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Determinants of genetic variation across eco-evolutionary scales in pinnipeds
Peart CR, Tusso S, Pophaly SD, ..., Shafer ABA, Wolf JBW
Nat Ecol Evol 4 (8) 1095-1104 [2020-08-00; online 2020-06-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders
Coutinho A, Günther T, Munters AR, ..., Malmström H, Jakobsson M
Am J Phys Anthropol 172 (4) 638-649 [2020-08-00; online 2020-06-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The importance of the ZBED6‐IGF2 axis for metabolic regulation in mouse myoblast cells
Younis S, Naboulsi R, Wang X, ..., Welsh N, Andersson L
The FASEB Journal 34 (8) 10250-10266 [2020-08-00; online 2020-06-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Recent introgression between Taiga Bean Goose and Tundra Bean Goose results in a largely homogeneous landscape of genetic differentiation.
Ottenburghs J, Honka J, Müskens GJDM, Ellegren H
pii: 10.1038/s41437-020-0322-z pmc: PMC7413267
Heredity (Edinb) 125 (1-2) 73-84 [2020-08-00; online 2020-05-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methylome and transcriptome signature of bronchoalveolar cells from multiple sclerosis patients in relation to smoking.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Kular L
Mult. Scler. - (-) 1352458520943768 [2020-07-30; online 2020-07-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic regulation of size variation in the transcriptome of the cerebrum in the chicken and its role in domestication and brain size evolution.
Höglund A, Strempfl K, Fogelholm J, Wright D, Henriksen R
pii: 10.1186/s12864-020-06908-0
BMC Genomics 21 (1) 518 [2020-07-29; online 2020-07-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A decade of epigenetic change in aging twins: Genetic and environmental contributions to longitudinal DNA methylation.
Reynolds CA, Tan Q, Munoz E, ..., Hägg S, Pedersen NL
Aging Cell 19 (8) e13197 [2020-07-24; online 2020-07-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide cross-tissue correlation of human bone and blood DNA methylation - can blood be used as a surrogate for bone?
Ebrahimi P, Luthman H, McGuigan FE, Akesson KE
Epigenetics - (-) 1-14 [2020-07-21; online 2020-07-21]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.
Hagenaars SP, Coleman JRI, Choi SW, ..., Breen G, Lewis CM
Am. J. Med. Genet. B Neuropsychiatr. Genet. - (-) - [2020-07-18; online 2020-07-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Optimized metabarcoding with Pacific biosciences enables semi‐quantitative analysis of fungal communities
Castaño C, Berlin A, Brandström Durling M, ..., Clemmensen KE, Olson Å
New Phytol 228 (3) - [2020-07-17; online 2020-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Factor V Leiden with Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data.
Mahmoodi BK, Tragante V, Kleber ME, ..., Asselbergs FW, Patel R
Circulation - (-) - [2020-07-13; online 2020-07-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
pii: 10.1186/s13148-020-00884-8 pmc: PMC7333393
Clin Epigenetics 12 (1) 99 [2020-07-02; online 2020-07-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Y-Chromosome Variation in Southern African Khoe-San Populations Based on Whole-Genome Sequences
Naidoo T, Xu J, Vicente M, ..., Jakobsson M, Schlebusch CM
Genome Biol Evol 12 (7) 1031-1039 [2020-07-01; online 2020-07-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Growth-Inhibitory Activity of Bone Morphogenetic Protein 4 in Human Glioblastoma Cell Lines Is Heterogeneous and Dependent on Reduced SOX2 Expression
Dalmo E, Johansson P, Niklasson M, ..., Nelander S, Westermark B
Mol Cancer Res 18 (7) 981-991 [2020-07-00; online 2020-03-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Female-biased gene flow between two species of Darwin’s finches
Lamichhaney S, Han F, Webster MT, ..., Grant PR, Andersson L
Nat Ecol Evol 4 (7) 979-986 [2020-07-00; online 2020-05-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin
Tengvall K, Bergvall K, Olsson M, ..., Lindblad-Toh K, Andersson G
Immunogenetics 72 (5) 315-323 [2020-07-00; online 2020-06-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Age-of-onset information helps identify 76 genetic variants associated with allergic disease
Ferreira MAR, Vonk JM, Baurecht H, ..., None , None
PLoS Genet. 16 (6) e1008725 [2020-06-30; online 2020-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.
Watanabe A, Miyake K, Nordlund J, ..., Sugita K, Inukai T
pii: 461098
Blood 136 (20) 2319-2333 [2020-06-23; online 2020-06-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
A family‐based genome‐wide association study of recurrent aphthous stomatitis
Bankvall M, Östman S, Jontell M, Torinsson Naluai Å
Oral Dis - (-) - [2020-06-18; online 2020-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Removal of H2Aub1 by ubiquitin-specific proteases 12 and 13 is required for stable Polycomb-mediated gene repression in Arabidopsis.
Kralemann LEM, Liu S, Trejo-Arellano MS, ..., Köhler C, Hennig L
pii: 10.1186/s13059-020-02062-8 pmc: PMC7296913
Genome Biol. 21 (1) 144 [2020-06-16; online 2020-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
LPS-treatment of bovine endometrial epithelial cells causes differential DNA methylation of genes associated with inflammation and endometrial function.
Jhamat N, Niazi A, Guo Y, ..., Andersson G, Humblot P
pii: 10.1186/s12864-020-06777-7
BMC Genomics 21 (1) 385 [2020-06-03; online 2020-06-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Normal Testosterone but Higher Luteinizing Hormone Plasma Levels in Men With Hypersexual Disorder.
Chatzittofis A, Boström AE, Öberg KG, ..., Arver S, Jokinen J
pii: S2050-1161(20)30028-3 pmc: PMC7261685
Sex Med 8 (2) 243-250 [2020-06-00; online 2020-03-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mitochondrial genomes from Bronze Age Poland reveal genetic continuity from the Late Neolithic and additional genetic affinities with the steppe populations
Juras A, Makarowicz P, Chyleński M, ..., Jakobsson M, Dabert M
Am J Phys Anthropol 172 (2) 176-188 [2020-06-00; online 2020-04-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Illuminating Genetic Mysteries of the Dead Sea Scrolls
Anava S, Neuhof M, Gingold H, ..., Jakobsson M, Rechavi O
Cell 181 (6) 1218-1231.e27 [2020-06-00; online 2020-06-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
de las Fuentes L, None , Sung YJ, ..., Rao DC, Fornage M
Mol. Psychiatry - (-) - [2020-05-05; online 2020-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Joint impact of common risk factors on incident dementia: A cohort study of the Swedish Twin Registry.
Tomata Y, Li X, Karlsson IK, ..., Pedersen NL, Hägg S
J. Intern. Med. 288 (2) 234-247 [2020-05-03; online 2020-05-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole-genome sequencing of human remains to enable genealogy DNA database searches – A case report
Tillmar A, Sjölund P, Lundqvist B, ..., Älgenäs C, Green H
Forensic Sci Int Genet 46 (-) 102233 [2020-05-00; online 2020-05-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
Bryois J, Skene NG, Hansen TF, ..., Hjerling-Leffler J, Sullivan PF
pii: 10.1038/s41588-020-0610-9
Nat. Genet. 52 (5) 482-493 [2020-04-27; online 2020-04-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Effect of Cobalt, Nickel, and Selenium/Tungsten Deficiency on Mesophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds
Šafarič L, Yekta SS, Svensson BH, ..., Bastviken D, Björn A
Microorganisms 8 (4) 598 [2020-04-20; online 2020-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Associations Between Childhood Psychopathology and Adult Depression and Associated Traits in 42 998 Individuals: A Meta-Analysis.
Akingbuwa WA, Hammerschlag AR, Jami ES, ..., Middeldorp CM, and the Bipolar Disorder and Major Depressive Disorder Working Groups of the Psychiatric Genomics Consortium
pii: 2763801 pmc: PMC7160753
JAMA Psychiatry - (-) - [2020-04-15; online 2020-04-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Polymerase IV Plays a Crucial Role in Pollen Development in Capsella
Wang Z, Butel N, Santos-González J, ..., Martinez G, Köhler C
Plant Cell 32 (4) 950-966 [2020-04-00; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver.
Cavalli M, Diamanti K, Pan G, ..., Komorowski J, Wadelius C
pmc: PMC7185313
OMICS 24 (4) 180-194 [2020-04-00; online 2020-03-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G
Leukemia & Lymphoma 61 (3) 1-10 [2020-03-22; online 2019-10-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Effects of acute sleep loss on diurnal plasma dynamics of CNS health biomarkers in young men
Benedict C, Blennow K, Zetterberg H, Cedernaes J
Neurology 94 (11) e1181-e1189 [2020-03-17; online 2020-01-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Pre- and postnatal Lactobacillus reuteri treatment alters DNA methylation of infant T helper cells.
Forsberg A, Huoman J, Söderholm S, ..., Gustafsson M, Jenmalm MC
Pediatr Allergy Immunol 31 (5) 544-553 [2020-03-09; online 2020-03-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic resources for evolutionary studies in flat periwinkles and related species.
Marques JP, Sotelo G, Galindo J, ..., Hollander J, Faria R
pii: 10.1038/s41597-020-0408-8
Sci Data 7 (1) 73 [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Oral Microbiota Profile Associates with Sugar Intake and Taste Preference Genes.
Esberg A, Haworth S, Hasslöf P, Lif Holgerson P, Johansson I
pii: nu12030681
Nutrients 12 (3) - [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.
Reid S, Alexsson A, Frodlund M, ..., Rönnblom L, Leonard D
pii: annrheumdis-2019-216227
Ann. Rheum. Dis. 79 (3) 363-369 [2020-03-01; online 2019-12-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.
Danielsson M, Halvardson J, Davies H, ..., Dumanski JP, Forsberg LA
pii: 10.1038/s41431-019-0533-z
Eur. J. Hum. Genet. 28 (3) 349-357 [2020-03-01; online 2019-10-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Immune Profiling of Human Gut-Associated Lymphoid Tissue Identifies a Role for Isolated Lymphoid Follicles in Priming of Region-Specific Immunity
Fenton TM, Jørgensen PB, Niss K, ..., Johansson-Lindbom B, Agace WW
Immunity 52 (3) 557-570.e6 [2020-03-00; online 2020-03-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Heritability of Caries Scores, Trajectories, and Disease Subtypes
Haworth S, Esberg A, Lif Holgerson P, ..., Franks PW, Johansson I
J Dent Res 99 (3) 264-270 [2020-03-00; online 2020-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Marine Sediments Illuminate Chlamydiae Diversity and Evolution
Dharamshi JE, Tamarit D, Eme L, ..., Spang A, Ettema TJG
Current Biology 30 (6) 1032-1048.e7 [2020-03-00; online 2020-03-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia.
Richards AL, Pardiñas AF, Frizzati A, ..., O'Donovan MC, Walters JTR
pii: 5519548
Schizophr Bull 46 (2) 336-344 [2020-02-26; online 2019-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Patterns of African and Asian admixture in the Afrikaner population of South Africa.
Hollfelder N, Erasmus JC, Hammaren R, ..., Greeff JM, Schlebusch CM
pii: 10.1186/s12915-020-0746-1
BMC Biol. 18 (1) 16 [2020-02-24; online 2020-02-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
Rasmussen ER, Hallberg P, Baranova EV, ..., Palmer CNA, Wadelius M
pii: 10.1038/s41397-020-0165-2
Pharmacogenomics J. 20 (6) 770-783 [2020-02-21; online 2020-02-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dominance of Mating Type A1 and Indication of Epigenetic Effects During Early Stages of Mating in Phytophthora infestans.
Tzelepis G, Hodén KP, Fogelqvist J, ..., Vetukuri RR, Dixelius C
pmc: PMC7046690
Front Microbiol 11 (-) 252 [2020-02-21; online 2020-02-21]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
Li C, Stoma S, Lotta LA, ..., Langenberg C, Codd V
pii: S0002-9297(20)30048-3
Am. J. Hum. Genet. - (-) - [2020-02-20; online 2020-02-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Munn-Chernoff MA, Johnson EC, Chou YL, ..., Bulik CM, Agrawal A
Addict Biol - (-) e12880 [2020-02-16; online 2020-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.
Nordlund J, Marincevic-Zuniga Y, Cavelier L, ..., Lönnerholm G, Syvänen AC
pii: 10.1038/s41598-020-59214-w pmc: PMC7018692
Sci Rep 10 (1) 2512 [2020-02-13; online 2020-02-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Longitudinal trajectories, correlations and mortality associations of nine biological ages across 20-years follow-up.
Li X, Ploner A, Wang Y, ..., Jylhävä J, Hägg S
pii: 51507 pmc: PMC7012595
Elife 9 (-) - [2020-02-11; online 2020-02-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia.
Grönroos T, Mäkinen A, Laukkanen S, ..., Heinäniemi M, Lohi O
pii: 10.1038/s41598-020-58970-z pmc: PMC7005266
Sci Rep 10 (1) 2043 [2020-02-06; online 2020-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Convergent Evolution of Hydrogenosomes from Mitochondria by Gene Transfer and Loss
Lewis WH, Lind AE, Sendra KM, ..., Ettema TJG, Embley TM
Mol. Biol. Evol. 37 (2) 524-539 [2020-02-01; online 2019-10-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Dynamic architecture and regulatory implications of the miRNA network underlying the response to stress in melon
Sanz-Carbonell A, Marques MC, Martinez G, Gomez G
RNA Biol 17 (2) 292-308 [2020-02-01; online 2019-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression
Pan G, Cavalli M, Carlsson B, ..., Kumar C, Wadelius C
iScience 23 (2) 100808 [2020-02-00; online 2020-02-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CREBBP and WDR 24 Identified as Candidate Genes for Quantitative Variation in Red-Brown Plumage Colouration in the Chicken.
Fogelholm J, Henriksen R, Höglund A, ..., Jensen P, Wright D
pii: 10.1038/s41598-020-57710-7 pmc: PMC6981141
Sci Rep 10 (1) 1161 [2020-01-24; online 2020-01-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SWEDEGENE-a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions.
Hallberg P, Yue QY, Eliasson E, ..., Ås J, Wadelius M
pii: 10.1038/s41397-020-0148-3
Pharmacogenomics J. 20 (4) 579-585 [2020-01-17; online 2020-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.
Bonomi A, Veglia F, Baldassarre D, ..., Gigante B, on behalf of the IMPROVE study group
pii: 10.1038/s41435-019-0090-z
Genes Immun. - (-) - [2020-01-14; online 2020-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Shah S, Henry A, Roselli C, ..., Swerdlow DI, Lumbers RT
pii: 10.1038/s41467-019-13690-5
Nat Commun 11 (1) 163 [2020-01-09; online 2020-01-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
Laan L, Klar J, Sobol M, ..., Schuster J, Dahl N
pii: 10.1186/s13148-019-0803-1 pmc: PMC6950999
Clin Epigenetics 12 (1) 9 [2020-01-08; online 2020-01-08]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PCSK6 Is a Key Protease in the Control of Smooth Muscle Cell Function in Vascular Remodeling.
Rykaczewska U, Suur BE, Röhl S, ..., Hedin U, Matic L
Circ. Res. 126 (5) 571-585 [2020-01-02; online 2020-01-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Proteogenomics [Collaborative]
DOI Crossref
The Genome of the Endangered Dryas Monkey Provides New Insights into the Evolutionary History of the Vervets
van der Valk T, Gonda CM, Silegowa H, ..., Detwiler KM, Guschanski K
Mol. Biol. Evol. 37 (1) 183-194 [2020-01-01; online 2019-09-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren’s syndrome
Björk A, Richardsdotter Andersson E, Imgenberg-Kreuz J, ..., Nordmark G, Wahren-Herlenius M
RMD Open 6 (1) e000995 [2020-01-00; online 2020-01-07]
Bioinformatics Compute and Storage [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Myers L, Blyth M, Moradkhani K, ..., Anderlid BM, Tammimies K
pmc: PMC6978403
Mol Genet Genomic Med 8 (1) e1013 [2020-01-00; online 2019-11-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of genetic variants related to plasma fatty acids with type 2 diabetes mellitus and glycaemic traits: a Mendelian randomisation study.
Yuan S, Larsson SC
pii: 10.1007/s00125-019-05019-0 pmc: PMC6890658
Diabetologia 63 (1) 116-123 [2020-01-00; online 2019-11-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref
Gene transfer across species boundaries in bryophytes: evidence from major life cycle stages in Homalothecium lutescens and H. sericeum.
Sawangproh W, Hedenäs L, Lang AS, Hansson B, Cronberg N
pii: 5686322
Ann. Bot. - (-) - [2019-12-24; online 2019-12-24]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Inoculum Source Determines Acetate and Lactate Production during Anaerobic Digestion of Sewage Sludge and Food Waste
Moestedt J, Westerholm M, Isaksson S, Schnürer A
Bioengineering 7 (1) 3 [2019-12-23; online 2019-12-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Screening of Plasticity Regulating Nogo-Type Signaling Genes in Migraine.
Smedfors G, Liesecke F, Ran C, ..., Karlsson TE, Carmine Belin A
pii: brainsci10010005
Brain Sci 10 (1) - [2019-12-20; online 2019-12-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal DNA methylation changes at MET may alter HGF/c-MET signalling in adolescents at risk for depression.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
Epigenetics - (-) 1-18 [2019-12-19; online 2019-12-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive longitudinal study of epigenetic mutations in aging.
Wang Y, Karlsson R, Jylhävä J, ..., Almgren M, Hägg S
pii: 10.1186/s13148-019-0788-9
Clin Epigenetics 11 (1) 187 [2019-12-09; online 2019-12-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis.
Rivera NV, Patasova K, Kullberg S, ..., Grunewald J, Padyukov L
pii: 10.1038/s41598-019-54612-1
Sci Rep 9 (1) 18633 [2019-12-09; online 2019-12-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group.
Jia T, Chu C, Liu Y, ..., Schumann G, Desrivières S
pii: 10.1038/s41380-019-0605-z
Mol. Psychiatry - (-) - [2019-12-06; online 2019-12-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Replicating associations between DNA methylation and body mass index in a longitudinal sample of older twins.
Karlsson IK, Ericsson M, Wang Y, ..., Reynolds CA, Dahl Aslan AK
pii: 10.1038/s41366-019-0498-6
Int J Obes (Lond) - (-) - [2019-12-04; online 2019-12-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait.
Vicente M, Priehodová E, Diallo I, ..., Černý V, Schlebusch CM
pii: 10.1186/s12864-019-6296-7
BMC Genomics 20 (1) 915 [2019-12-02; online 2019-12-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The MADS-box transcription factor PHERES1 controls imprinting in the endosperm by binding to domesticated transposons
Batista RA, Moreno-Romero J, Qiu Y, ..., Figueiredo DD, Köhler C
Elife 8 (-) - [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy.
Tsagiopoulou M, Papakonstantinou N, Moysiadis T, ..., Rosenquist R, Stamatopoulos K
pii: 10.1186/s13148-019-0783-1
Clin Epigenetics 11 (1) 177 [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Arteria: An automation system for a sequencing core facility
Dahlberg J, Hermansson J, Sturlaugsson S, ..., Hofmann O, Larsson P
Gigascience 8 (12) - [2019-12-01; online 2019-12-11]
Clinical Genomics Uppsala [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Transmission dynamics study of tuberculosis isolates with whole genome sequencing in southern Sweden
Alaridah N, Hallbäck ET, Tångrot J, ..., Kaijser B, Godaly G
Sci Rep 9 (1) - [2019-12-00; online 2019-03-20]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
Schuster J, Laan L, Klar J, ..., Birnir B, Dahl N
Neurobiology of Disease 132 (-) 104583 [2019-12-00; online 2019-12-00]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genotyping by low-coverage whole-genome sequencing in intercross pedigrees from outbred founders: a cost-efficient approach
Zan Y, Payen T, Lillie M, ..., Siegel PB, Carlborg Ö
Genet. Sel. Evol. 51 (1) - [2019-12-00; online 2019-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptomic and proteomic analyses reveal new insights into the regulation of immune pathways during adenovirus type 2 infection
Zhao H, Chen M, Valdés A, Lind SB, Pettersson U
BMC Microbiol. 19 (1) - [2019-12-00; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
Gudmundsson S, Wilbe M, Filipek-Górniok B, ..., Annerén G, Bondeson ML
Sci Rep 9 (1) - [2019-12-00; online 2019-07-24]
BioImage Informatics [Collaborative] Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Uppsala [Collaborative] Genome Engineering Zebrafish [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
doepipeline: a systematic approach to optimizing multi-level and multi-step data processing workflows
Svensson D, Sjögren R, Sundell D, Sjödin A, Trygg J
BMC Bioinformatics 20 (1) - [2019-12-00; online 2019-10-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Exploring the genetics of trotting racing ability in horses using a unique Nordic horse model
Velie BD, Lillie M, Fegraeus KJ, ..., Strand E, Lindgren G
BMC Genomics 20 (1) - [2019-12-00; online 2019-02-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Tissue-specific transposon-associated small RNAs in the gymnosperm tree, Norway spruce
Nakamura M, Köhler C, Hennig L
BMC Genomics 20 (1) - [2019-12-00; online 2019-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic variation in CADM2 as a link between psychological traits and obesity
Morris J, Bailey MES, Baldassarre D, ..., Smith DJ, Strawbridge RJ
Sci Rep 9 (1) - [2019-12-00; online 2019-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Prediction of Serum 25-Hydroxyvitamin D, Calcium, and Parathyroid Hormone Levels in Relation to Development of Type 2 Diabetes: A Mendelian Randomization Study.
Yuan S, Jiang X, Michaëlsson K, Larsson SC
pii: dc19-1247
Diabetes Care 42 (12) 2197-2203 [2019-12-00; online 2019-09-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Comparative genomics of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members emphasizing tRNA and non-coding RNA
Behra PRK, Pettersson BMF, Das S, Dasgupta S, Kirsebom LA
BMC Evol. Biol. 19 (1) - [2019-12-00; online 2019-06-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genomic regions of speciation and adaptation among three species of grouse
Kozma R, Rödin-Mörch P, Höglund J
Sci Rep 9 (1) - [2019-12-00; online 2019-01-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas
Backman S, Åkerström T, Maharjan R, ..., Hellman P, Björklund P
Sci Rep 9 (1) - [2019-12-00; online 2019-04-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Insight into the biology of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members
Behra PRK, Pettersson BMF, Ramesh M, Dasgupta S, Kirsebom LA
Sci Rep 9 (1) - [2019-12-00; online 2019-12-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The effect of Wolbachia on gene expression in Drosophila paulistorum and its implications for symbiont-induced host speciation
Baião GC, Schneider DI, Miller WJ, Klasson L
BMC Genomics 20 (1) - [2019-12-00; online 2019-06-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases
Cavalli M, Baltzer N, Pan G, ..., Komorowski J, Wadelius C
Hum Genomics 13 (1) - [2019-12-00; online 2019-04-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers
Höglund J, Rafati N, Rask-Andersen M, ..., Ek WE, Johansson Å
Sci Rep 9 (1) - [2019-12-00; online 2019-11-14]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic signatures associated with imprinted paternally expressed genes in the Arabidopsis endosperm
Moreno-Romero J, Del Toro-De León G, Yadav VK, Santos-González J, Köhler C
Genome Biol. 20 (1) - [2019-12-00; online 2019-02-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mercury methylating microbial communities of boreal forest soils
Xu J, Buck M, Eklöf K, ..., Bertilsson S, Bravo AG
Sci Rep 9 (1) - [2019-12-00; online 2019-01-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Oxygen induces the expression of invasion and stress response genes in the anaerobic salmon parasite Spironucleus salmonicida
Stairs CW, Kokla A, Ástvaldsson Á, ..., Svärd S, Ettema TJG
BMC Biol. 17 (1) - [2019-12-00; online 2019-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden
Szatkiewicz J, Crowley JJ, Adolfsson AN, ..., Adolfsson R, Sullivan PF
Transl Psychiatry 9 (1) - [2019-12-00; online 2019-02-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomic footprint of sexual conflict.
Sayadi A, Martinez Barrio A, Immonen E, ..., Nystedt B, Arnqvist G
pii: 10.1038/s41559-019-1041-9
Nat Ecol Evol 3 (12) 1725-1730 [2019-12-00; online 2019-11-18]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Sulfide level in municipal sludge digesters affects microbial community response to long-chain fatty acid loads
Shakeri Yekta S, Liu T, Axelsson Bjerg M, ..., Björn A, Schnürer A
Biotechnol Biofuels 12 (1) - [2019-12-00; online 2019-11-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Swedish Twin Registry: Content and Management as a Research Infrastructure.
Zagai U, Lichtenstein P, Pedersen NL, Magnusson PKE
pii: S1832427419000999
Twin Res Hum Genet - (-) 1-9 [2019-11-21; online 2019-11-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
Pisanu C, Williams MJ, Ciuculete DM, ..., Squassina A, Schiöth HB
pii: 10.1038/s41398-019-0652-x
Transl Psychiatry 9 (1) 315 [2019-11-21; online 2019-11-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic predisposition to mosaic Y chromosome loss in blood
Thompson DJ, None , Genovese G, ..., None , None
Nature 575 (7784) 652-657 [2019-11-20; online 2019-11-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
Meng W, Sjöholm LK, Kononenko O, ..., Rüegg J, Liu Y
pii: 10.1038/s41380-019-0588-9
Mol. Psychiatry - (-) - [2019-11-19; online 2019-11-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Population Pharmacokinetics and Pharmacogenetics of Ethambutol in Adult Patients Coinfected with Tuberculosis and HIV
Sundell J, Bienvenu E, Birgersson S, Äbelö A, Ashton M
Antimicrob Agents Chemother 64 (2) - [2019-11-11; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic regulation of gene expression and splicing during a 10-year period of human aging.
Balliu B, Durrant M, Goede O, ..., Ingelsson E, Montgomery SB
pii: 10.1186/s13059-019-1840-y pmc: PMC6827221
Genome Biol. 20 (1) 230 [2019-11-04; online 2019-11-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia
Kosalai ST, Morsy MHA, Papakonstantinou N, ..., Rosenquist R, Kanduri M
Epigenetics 14 (11) 1125-1140 [2019-11-02; online 2019-06-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
A genomic inference of the White Plymouth Rock genealogy
Guo Y, Lillie M, Zan Y, ..., Siegel PB, Carlborg Ö
Poult. Sci. 98 (11) 5272-5280 [2019-11-01; online 2019-07-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Serum Parathyroid Hormone and Risk of Coronary Artery Disease: Exploring Causality Using Mendelian Randomization.
Melhus H, Michaëlsson K, Larsson SC
pii: 5532038
J. Clin. Endocrinol. Metab. 104 (11) 5595-5600 [2019-11-01; online 2019-07-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Characterization of Bacterial Communities in Breeding Waters of Anopheles darlingi in Manaus in the Amazon Basin Malaria-Endemic Area
Nilsson LKJ, de Oliveira MR, Marinotti O, ..., de Souza AQL, Terenius O
Microb Ecol 78 (4) 781-791 [2019-11-00; online 2019-04-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, ..., Kubo M, Wilson JF
pii: 10.1038/s41467-019-12283-6 pmc: PMC6823371
Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic architecture of subcortical brain structures in 38,851 individuals
Satizabal CL, Adams HHH, Hibar DP, ..., Seshadri S, Ikram MA
Nat Genet - (-) - [2019-10-21; online 2019-10-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.
Yao S, Kuja-Halkola R, Martin J, ..., Bulik CM, Larsson H
pii: S0006-3223(19)31371-X
Biol. Psychiatry 86 (8) 577-586 [2019-10-15; online 2019-05-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon
Malmström H, Günther T, Svensson EM, ..., Storå J, Jakobsson M
Proc. R. Soc. B 286 (1912) 20191528 [2019-10-09; online 2019-10-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Along the Indian Ocean coast: genomic variation in Mozambique provides new insights into the Bantu expansion.
Semo A, Gayà-Vidal M, Fortes-Lima C, ..., Schlebusch C, Rocha J
pii: 5583770
Mol. Biol. Evol. - (-) - [2019-10-08; online 2019-10-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A, Marten J, Halperin Kuhns VL, ..., Vitart V, Köttgen A
pii: 10.1038/s41588-019-0504-x
Nat. Genet. - (-) - [2019-10-02; online 2019-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Distribution of bacteria between different milk fractions, investigated using culture‐dependent methods and molecular‐based and fluorescent microscopy approaches
Sun L, Dicksved J, Priyashantha H, Lundh Å, Johansson M
J Appl Microbiol 127 (4) 1028-1037 [2019-10-00; online 2019-07-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus
Odqvist L, Jevnikar Z, Riise R, ..., Collins B, Vaarala O
Ann Rheum Dis 78 (10) 1363-1370 [2019-10-00; online 2019-07-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Exploring a Pool-seq-only approach for gaining population genomic insights in nonmodel species
Kurland S, Wheat CW, Paz Celorio Mancera M, ..., Ryman N, Laikre L
Ecol Evol 9 (19) 11448-11463 [2019-10-00; online 2019-09-26]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic basis and timing of a major mating system shift in Capsella
Bachmann JA, Tedder A, Laenen B, ..., Castric V, Slotte T
New Phytol 224 (1) 505-517 [2019-10-00; online 2019-08-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.
Järviaho T, Bang B, Zachariadis V, ..., Niinimäki R, Nordgren A
pii: bloodadvances.2018028795
Blood Adv 3 (18) 2722-2731 [2019-09-24; online 2019-09-15]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
pii: 5555682
Mol. Biol. Evol. - (-) - [2019-09-24; online 2019-09-24]
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) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
IGEMS: The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update.
Pedersen NL, Gatz M, Finch BK, ..., Sachdev P, Whitfield KE
pii: S1832427419000768
Twin Res Hum Genet - (-) 1-8 [2019-09-23; online 2019-09-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Hypermethylation-associated downregulation of microRNA-4456 in hypersexual disorder with putative influence on oxytocin signalling: A DNA methylation analysis of miRNA genes.
Boström AE, Chatzittofis A, Ciuculete DM, ..., Schiöth HB, Jokinen J
Epigenetics - (-) 1-16 [2019-09-22; online 2019-09-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Phylogenetic microbiota profiling in fecal samples depends on combination of sequencing depth and choice of NGS analysis method
Rajan SK, Lindqvist M, Brummer RJ, Schoultz I, Repsilber D
PLoS ONE 14 (9) e0222171 [2019-09-17; online 2019-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
Teumer A, Li Y, Ghasemi S, ..., Pattaro C, Köttgen A
pii: 10.1038/s41467-019-11576-0 pmc: PMC6739370
Nat Commun 10 (1) 4130 [2019-09-11; online 2019-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease.
Stahel P, Nahmias A, Sud SK, ..., Batterham RL, Dash S
pii: db18-1254
Diabetes - (-) - [2019-09-10; online 2019-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Recurrent convergent evolution at amino acid residue 261 in fish rhodopsin
Hill J, Enbody ED, Pettersson ME, ..., Scheerer P, Andersson L
Proc Natl Acad Sci USA 116 (37) 18473-18478 [2019-09-10; online 2019-08-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Associations of Smoking and Alcohol and Coffee Intake with Fracture and Bone Mineral Density: A Mendelian Randomization Study.
Yuan S, Michaëlsson K, Wan Z, Larsson SC
pii: 10.1007/s00223-019-00606-0
Calcif. Tissue Int. - (-) - [2019-09-04; online 2019-09-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast.
Tusso S, Nieuwenhuis BPS, Sedlazeck FJ, ..., Jeffares DC, Wolf JBW
pii: 5492083 pmc: PMC6736153
Mol. Biol. Evol. 36 (9) 1975-1989 [2019-09-01; online 2019-06-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Copy number variation and neuropsychiatric problems in females and males in the general population.
Martin J, Tammimies K, Karlsson R, ..., Lichtenstein P, Magnusson PKE
Am. J. Med. Genet. B Neuropsychiatr. Genet. 180 (6) 341-350 [2019-09-00; online 2018-10-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Impact of demography on linked selection in two outcrossing Brassicaceae species
Mattila TM, Laenen B, Horvath R, ..., Savolainen O, Slotte T
Ecol Evol 9 (17) 9532-9545 [2019-09-00; online 2019-08-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.
Ganna A, Verweij KJH, Nivard MG, ..., Neale BM, Zietsch BP
pii: 365/6456/eaat7693
Science 365 (6456) - [2019-08-30; online 2019-08-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Neuroticism as a predictor of frailty in old age: a genetically informative approach.
Danielsdottir HB, Jylhävä J, Hägg S, ..., Mosing MA, Lehto K
Psychosom Med - (-) - [2019-08-28; online 2019-08-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.
Beijer K, Nowak C, Sundström J, ..., Fall T, Lind L
pii: 10.1007/s00125-019-4960-8
Diabetologia - (-) - [2019-08-24; online 2019-08-24]
Bioinformatics Compute and Storage [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Lack of gene flow: Narrow and dispersed differentiation islands in a triplet of Leptidea butterfly species
Talla V, Johansson A, Dincă V, ..., Wiklund C, Backström N
ENA: PRJEB21838
Mol Ecol 28 (6) 3756-3770 [2019-08-08; online 2019-08-08]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.
Glanville KP, Coleman JRI, Hanscombe KB, ..., O'Reilly PF, Lewis CM
pii: S0006-3223(19)31558-6
Biol. Psychiatry - (-) - [2019-08-05; online 2019-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Maintenance of High Genome Integrity over Vegetative Growth in the Fairy-Ring Mushroom Marasmius oreades
Hiltunen M, Grudzinska-Sterno M, Wallerman O, Ryberg M, Johannesson H
Current Biology 29 (16) 2758-2765.e6 [2019-08-00; online 2019-08-00]
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.
von Holst S, Jiao X, Liu W, ..., Bryant P, Lindblom A
pii: 10.1038/s41431-019-0388-3
Eur. J. Hum. Genet. 27 (8) 1286-1295 [2019-08-00; online 2019-04-05]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tobacco smoking induces changes in true DNA methylation, hydroxymethylation and gene expression in bronchoalveolar lavage cells.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Ekström TJ
pii: S2352-3964(19)30441-4 pmc: PMC6710853
EBioMedicine 46 (-) 290-304 [2019-08-00; online 2019-07-12]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Almlöf JC, Leonard D, ..., Sandling JK, Nordmark G
pmc: PMC6688520
Front Immunol 10 (-) 1686 [2019-07-30; online 2019-07-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combinations of Spok genes create multiple meiotic drivers in Podospora.
Vogan AA, Ament-Velásquez SL, Granger-Farbos A, ..., Saupe SJ, Johannesson H
pii: 46454 pmc: PMC6660238 Dryad: 10.5061/dryad.vm1192g
Elife 8 (-) - [2019-07-26; online 2019-07-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.
Wallander K, Liu W, von Holst S, ..., Lindblom A, Lagerstedt-Robinson K
Genes Chromosomes Cancer - (-) - [2019-07-23; online 2019-07-23]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic affinities among southern Africa hunter-gatherers and the impact of admixing farmer and herder populations.
Vicente M, Jakobsson M, Ebbesen P, Schlebusch CM
pii: 5475268
Mol. Biol. Evol. - (-) - [2019-07-09; online 2019-07-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mutation dynamics of CpG dinucleotides during a recent event of vertebrate diversification
Pértille F, Da Silva VH, Johansson AM, ..., Jensen P, Guerrero-Bosagna C
Epigenetics 14 (7) 685-707 [2019-07-03; online 2019-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.
Torabi Moghadam B, Etemadikhah M, Rajkowska G, ..., Feuk L, Carlström EL
pii: S0022-3956(18)31394-3
J Psychiatr Res 114 (-) 41-47 [2019-07-00; online 2019-04-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide association study of lung function level and its change.
Imboden M, Wielscher M, Rezwan FI, ..., Jarvis D, Probst-Hensch NM
pii: 13993003.00457-2019 pmc: PMC6610463
Eur. Respir. J. 54 (1) - [2019-07-00; online 2019-07-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes.
Pujol-Moix N, Martinez-Perez A, Sabater-Lleal M, ..., Souto JC, Soria JM
pii: ijms20133221
Int J Mol Sci 20 (13) - [2019-06-30; online 2019-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allelic Variation in Taste Genes Is Associated with Taste and Diet Preferences and Dental Caries.
Eriksson L, Esberg A, Haworth S, Holgerson PL, Johansson I
pii: nu11071491 pmc: PMC6682888
Nutrients 11 (7) - [2019-06-29; online 2019-06-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.
Floyd JS, Bloch KM, Brody JA, ..., Alfirevic A, PREDICTION-ADR Consortium and EUDRAGENE
pii: PONE-D-19-00673
PLoS ONE 14 (6) e0218115 [2019-06-26; online 2019-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.
Shungin D, Haworth S, Divaris K, ..., Timpson NJ, Johansson I
pii: 10.1038/s41467-019-10630-1 pmc: PMC6591304
Nat Commun 10 (1) 2773 [2019-06-24; online 2019-06-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Microbiota data from low biomass milk samples is markedly affected by laboratory and reagent contamination
Dahlberg J, Sun L, Persson Waller K, ..., Agenäs S, Dicksved J
PLoS ONE 14 (6) e0218257 [2019-06-13; online 2019-06-13]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic basis of amphibian larval development along a latitudinal gradient: Gene diversity, selection and links with phenotypic variation in transcription factor C/EBP‐1
Meyer-Lucht Y, Luquet E, Jóhannesdóttir F, ..., Höglund J, Laurila A
Mol Ecol - (-) - [2019-06-07; online 2019-06-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions
de Vries PS, Brown MR, Bentley AR, ..., Rao DC, Morrison AC
Am. J. Epidemiol. 188 (6) 1033-1054 [2019-06-01; online 2019-01-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of DNA methylation patterns predisposing for an efficient response to BCG vaccination in healthy BCG-naïve subjects.
Das J, Verma D, Gustafsson M, Lerm M
pmc: PMC6557603
Epigenetics 14 (6) 589-601 [2019-06-00; online 2019-04-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
A catalog of genetic loci associated with kidney function from analyses of a million individuals
Wuttke M, None , Li Y, ..., Pattaro C, None
Nat Genet 51 (6) 957-972 [2019-06-00; online 2019-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Can markers of biological age predict dependency in old age?
Jylhävä J, Jiang M, Foebel AD, Pedersen NL, Hägg S
pii: 10.1007/s10522-019-09795-5 pmc: PMC6535415
Biogerontology 20 (3) 321-329 [2019-06-00; online 2019-01-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Footprints of adaptive evolution revealed by whole Z chromosomes haplotypes in flycatchers
Nadachowska‐Brzyska K, Burri R, Ellegren H
Mol Ecol 28 (9) 2290-2304 [2019-05-29; online 2019-05-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetical Genomics of Tonic Immobility in the Chicken.
Fogelholm J, Inkabi S, Höglund A, ..., Henriksen R, Wright D
pii: genes10050341
Genes 10 (5) - [2019-05-07; online 2019-05-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.
Nicoletti P, Barrett S, McEvoy L, ..., Alfirevic A, Pirmohamed M
Clin. Pharmacol. Ther. - (-) - [2019-05-07; online 2019-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genotype‐free estimation of allele frequencies reduces bias and improves demographic inference from RADSeq data
Warmuth VM, Ellegren H
Mol Ecol Resour 19 (3) 586-596 [2019-05-00; online 2019-04-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
How Linked Selection Shapes the Diversity Landscape in Ficedula Flycatchers
Rettelbach A, Nater A, Ellegren H
Genetics 212 (1) 277-285 [2019-05-00; online 2019-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined
Kaleviste E, Saare M, Leahy TR, ..., Peterson P, Kisand K
Eur. J. Immunol. 49 (5) 790-800 [2019-05-00; online 2019-03-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.
Zhang Z, Cheng H, Hong X, ..., Wang X, Hao K
pii: 5306576 pmc: PMC6468244
Nucleic Acids Res. 47 (7) e39 [2019-04-23; online 2019-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.
Kharazmi M, Michaëlsson K, Schilcher J, ..., Wadelius M, Hallberg P
pii: 10.1007/s00223-019-00546-9
Calcif. Tissue Int. - (-) - [2019-04-20; online 2019-04-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
Sobol M, Klar J, Laan L, ..., Falk A, Dahl N
Mol Neurobiol 56 (10) 7113-7127 [2019-04-13; online 2019-04-13]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Sung YJ, de Las Fuentes L, Winkler TW, ..., Rao DC, Morrison AC
pii: 5439584 pmc: PMC6644157
Hum. Mol. Genet. - (-) - [2019-04-10; online 2019-04-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Asthma and affective traits in adults: a genetically informative study
Lehto K, Pedersen NL, Almqvist C, Lu Y, Brew BK
Eur Respir J - (-) 1802142 [2019-04-07; online 2019-04-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts
Silventoinen K, Jelenkovic A, Latvala A, ..., Sørensen TIA, Kaprio J
Obesity - (-) - [2019-04-05; online 2019-04-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct
Ferreira MAR, Mathur R, Vonk JM, ..., Koppelman GH, Almqvist C
The American Journal of Human Genetics 104 (4) 665-684 [2019-04-00; online 2019-04-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Post-glacial colonization routes coincide with a life-history breakpoint along a latitudinal gradient
Luquet E, Rödin Mörch P, Cortázar‐Chinarro M, ..., Höglund J, Laurila A
J Evol Biol 32 (4) 356-368 [2019-04-00; online 2019-02-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids
Bentley AR, None , Sung YJ, ..., None , None
Nat Genet 51 (4) 636-648 [2019-04-00; online 2019-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11
La Fleur L, Falk-Sörqvist E, Smeds P, ..., Moens L, Botling J
Lung Cancer 130 (-) 50-58 [2019-04-00; online 2019-04-00]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
Rentoft M, Svensson D, Sjödin A, ..., Melin BS, Johansson E
PLoS ONE 14 (3) e0213350 [2019-03-27; online 2019-03-27]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
PubMed DOI Crossref
Subsequent Event Risk in Individuals with Established Coronary Heart Disease: Design and Rationale of the GENIUS-CHD Consortium.
Patel R, Tragante V, Schmidt AF, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Chromosome 9p21 with Subsequent Coronary Heart Disease Events: A GENIUS-CHD Study of Individual Participant Data.
Patel RS, Schmidt AF, Tragante V, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Detecting selection signatures in three Iranian sheep breeds
Manzari Z, Mehrabani‐Yeganeh H, Nejati‐Javaremi A, Moradi MH, Gholizadeh M
Anim Genet - (-) - [2019-03-18; online 2019-03-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended insight into the Mycobacterium chelonae-abscessus complex through whole genome sequencing of Mycobacterium salmoniphilum outbreak and Mycobacterium salmoniphilum-like strains.
Behra PRK, Das S, Pettersson BMF, ..., Ennis DG, Kirsebom LA
pii: 10.1038/s41598-019-40922-x pmc: PMC6418233
Sci Rep 9 (1) 4603 [2019-03-14; online 2019-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K
Eur J Hum Genet 27 (3) 432-441 [2019-03-01; online 2018-11-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Acosta-Herrera M, Kerick M, González-Serna D, ..., Mayes MD, Martin J
pii: annrheumdis-2018-214127
Ann. Rheum. Dis. 78 (3) 311-319 [2019-03-00; online 2018-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE, Karaderi T, Highland HM, ..., North KE, Lindgren CM
pii: 10.1038/s41588-018-0334-2
Nat. Genet. 51 (3) 452-469 [2019-03-00; online 2019-02-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Shrine N, Guyatt AL, Erzurumluoglu AM, ..., Tobin MD, Wain LV
pii: 10.1038/s41588-018-0321-7 pmc: PMC6397078 mid: NIHMS1514965
Nat. Genet. 51 (3) 481-493 [2019-03-00; online 2019-02-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
Jansen IE, Savage JE, Watanabe K, ..., Andreassen OA, Posthuma D
pii: 10.1038/s41588-018-0311-9
Nat. Genet. 51 (3) 404-413 [2019-03-00; online 2019-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
DOI Crossref
Estimating the Fitness Effect of Deleterious Mutations During the Two Phases of the Life Cycle: A New Method Applied to the Root-Rot Fungus Heterobasidion parviporum
Clergeot PH, Rode NO, Glémin S, ..., Ihrmark K, Olson Å
Genetics 211 (3) 963-976 [2019-03-00; online 2018-12-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
de Vries PS, Sabater-Lleal M, Huffman JE, ..., O'Donnell CJ, Smith NL
pii: blood-2018-05-849240
Blood 133 (9) 967-977 [2019-02-28; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Exome sequencing in 51 early onset non-familial CRC cases
Thutkawkorapin J, Lindblom A, Tham E
Mol Genet Genomic Med - (-) e605 [2019-02-27; online 2019-02-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Fine-Tuning of Sox17 and Canonical Wnt Coordinates the Permeability Properties of the Blood-Brain Barrier
Corada M, Orsenigo F, Bhat GP, ..., Magnusson P, Dejana E
Circ Res 124 (4) 511-525 [2019-02-15; online 2019-02-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics and epigenetics in primary Sjögren's syndrome.
Imgenberg-Kreuz J, Rasmussen A, Sivils K, Nordmark G
pii: 5321203
Rheumatology (Oxford) - (-) - [2019-02-15; online 2019-02-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.
Kessler T, Wolf B, Eriksson N, ..., Kastrati A, Schunkert H
pii: 5320311
Cardiovasc. Res. - (-) - [2019-02-14; online 2019-02-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Bidirectional Selection for Body Weight on Standing Genetic Variation in a Chicken Model
Lillie M, Honaker CF, Siegel PB, Carlborg Ö
G3 (Bethesda) 9 (4) 1165-1173 [2019-02-08; online 2019-02-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Introgression of resistance to Rhopalosiphum padi L. from wild barley into cultivated barley facilitated by doubled haploid and molecular marker techniques.
Åhman I, Bengtsson T
pii: 10.1007/s00122-019-03287-3
Theor. Appl. Genet. - (-) - [2019-02-02; online 2019-02-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disentangling the genetics of lean mass.
Karasik D, Zillikens MC, Hsu YH, ..., Kiel DP, Ohlsson C
pii: 5307112
Am. J. Clin. Nutr. 109 (2) 276-287 [2019-02-01; online 2019-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R, Biroli P, Kong E, ..., Koellinger PD, Beauchamp JP
pii: 10.1038/s41588-018-0309-3
Nat. Genet. 51 (2) 245-257 [2019-02-00; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
Almlöf JC, Nystedt S, Leonard D, ..., Sandling JK, Syvänen AC
Hum Genet 138 (2) 141-150 [2019-02-00; online 2019-02-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Two Basidiomycete Fungi in the Cortex of Wolf Lichens
Tuovinen V, Ekman S, Thor G, ..., Spribille T, Johannesson H
Current Biology 29 (3) 476-483.e5 [2019-02-00; online 2019-02-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal changes in the genetic and environmental influences on the epigenetic clocks across old age: Evidence from two twin cohorts.
Jylhävä J, Hjelmborg J, Soerensen M, ..., Pedersen NL, Reynolds CA
pii: S2352-3964(19)30047-7 pmc: PMC6413471
EBioMedicine 40 (-) 710-716 [2019-02-00; online 2019-01-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
CD99 expression is strongly associated with clinical outcome in children with B-cell precursor acute lymphoblastic leukaemia
Chen D, Camponeschi A, Wu Q, ..., Fogelstrand L, Mårtensson IL
Br J Haematol 184 (3) 418-423 [2019-02-00; online 2018-11-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival.
Hallberg P, Smedje H, Eriksson N, ..., Wadelius M, Swedegene
pii: S2352-3964(19)30048-9
EBioMedicine - (-) - [2019-01-30; online 2019-01-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Carbonic Anhydrase 6 Gene Variation influences Oral Microbiota Composition and Caries Risk in Swedish adolescents.
Esberg A, Haworth S, Brunius C, Lif Holgerson P, Johansson I
pii: 10.1038/s41598-018-36832-z pmc: PMC6345836
Sci Rep 9 (1) 452 [2019-01-24; online 2019-01-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Kilpeläinen TO, Bentley AR, Noordam R, ..., Rao DC, Loos RJF
pii: 10.1038/s41467-018-08008-w pmc: PMC6342931
Nat Commun 10 (1) 376 [2019-01-22; online 2019-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.
Chauhan G, Adams HHH, Satizabal CL, ..., Debette S, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
pii: WNL.0000000000006851 pmc: PMC6369905
Neurology - (-) - [2019-01-16; online 2019-01-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Decreased Snow Cover Stimulates Under-Ice Primary Producers but Impairs Methanotrophic Capacity
Garcia SL, Szekely AJ, Bergvall C, Schattenhofer M, Peura S
mSphere 4 (1) - [2019-01-09; online 2019-01-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
Morris AP, Le TH, Wu H, ..., Humphreys BD, Franceschini N
pii: 10.1038/s41467-018-07867-7 pmc: PMC6318312
Nat Commun 10 (1) 29 [2019-01-03; online 2019-01-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tracking the Epigenetic Clock Across the Human Life Course: A Meta-analysis of Longitudinal Cohort Data.
Marioni RE, Suderman M, Chen BH, ..., Deary IJ, Hägg S
pii: 4944478 pmc: PMC6298183
J. Gerontol. A Biol. Sci. Med. Sci. 74 (1) 57-61 [2019-01-01; online 2018-05-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits
Morin A, Madore AM, Kwan T, ..., Pastinen T, Laprise C
Eur J Hum Genet 27 (1) 90-101 [2019-01-00; online 2018-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
Genetic risk for neuroticism predicts emotional health depending on childhood adversity
Lehto K, Karlsson I, Lundholm C, Pedersen NL
Psychol. Med. 49 (02) 260-267 [2019-01-00; online 2018-03-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mosaic loss of chromosome Y in leukocytes matters
Forsberg LA, Halvardson J, Rychlicka-Buniowska E, ..., Ingelsson M, Dumanski JP
Nat Genet 51 (1) 4-7 [2019-01-00; online 2018-10-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
ZBED6 negatively regulates insulin production, neuronal differentiation, and cell aggregation in MIN6 cells
Wang X, Jiang L, Wallerman O, ..., Welsh N, Andersson L
The FASEB Journal 33 (1) 88-100 [2019-01-00; online 2019-01-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2018

DOI Crossref
Endosperm-specific transcriptome analysis by applying the INTACT system
Del Toro-De León G, Köhler C
Plant Reprod 32 (1) 55-61 [2018-12-26; online 2018-12-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression
Haider Z, Larsson P, Landfors M, ..., Hultdin M, Degerman S
Cancer Med - (-) - [2018-12-21; online 2018-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Association of Genetic Risk Factors for Psychiatric Disorders and Traits of These Disorders in a Swedish Population Twin Sample
Taylor MJ, Martin J, Lu Y, ..., Larsson H, Lichtenstein P
JAMA Psychiatry - (-) - [2018-12-19; online 2018-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse.
Tay N, Macare C, Liu Y, ..., Schumann G, IMAGEN Consortium
Am J Psychiatry - (-) appiajp201817121360 [2018-12-11; online 2018-12-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L
Clin Genet 95 (3) 436-439 [2018-12-07; online 2018-12-07]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
Walters RK, None , Polimanti R, ..., Edenberg HJ, Agrawal A
Nat Neurosci 21 (12) 1656-1669 [2018-12-00; online 2018-11-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival
Maharjan R, Backman S, Åkerström T, Hellman P, Björklund P
Sci Rep 8 (1) 8610 [2018-12-00; online 2018-06-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The gut microbiome participates in transgenerational inheritance of low-temperature responses in Drosophila melanogaster
Zare A, Johansson AM, Karlsson E, Delhomme N, Stenberg P
FEBS Lett 592 (24) 4078-4086 [2018-12-00; online 2018-11-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene expression correlated with delay in shell formation in larval Pacific oysters (Crassostrea gigas) exposed to experimental ocean acidification provides insights into shell formation mechanisms
De Wit P, Durland E, Ventura A, Langdon CJ
BioProject: PRJNA306408 Dryad: 10.5061/dryad.8m5v4
BMC Genomics 19 (1) - [2018-12-00; online 2018-02-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Convergent evolution of complex genomic rearrangements in two fungal meiotic drive elements
Svedberg J, Hosseini S, Chen J, ..., Lascoux M, Johannesson H
BioProject: PRJNA486257 figshare: https://doi.org/10.6084/m9.figshare.c.4202669.v1
Nat Commun 9 (1) - [2018-12-00; online 2018-10-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Significant loss of mitochondrial diversity within the last century due to extinction of peripheral populations in eastern gorillas
van der Valk T, Sandoval-Castellanos E, Caillaud D, ..., Dalén L, Guschanski K
GENBANK: NC_037853 ENA: PRJEB21370
Sci Rep 8 (1) - [2018-12-00; online 2018-04-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals
Elbere I, Silamikelis I, Ustinova M, ..., Schiöth HB, Klovins J
Clin Epigenetics 10 (1) - [2018-12-00; online 2018-12-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative omics and feeding manipulations in chicken indicate a shift of the endocrine role of visceral fat towards reproduction
Bornelöv S, Seroussi E, Yosefi S, ..., Andersson L, Friedman-Einat M
BioProject: PRJEB23373
BMC Genomics 19 (1) - [2018-12-00; online 2018-04-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients
Houtman M, Ekholm L, Hesselberg E, ..., Lundberg IE, Padyukov L
Arthritis Res. Ther. 20 (1) - [2018-12-00; online 2018-08-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
Franceschini N, None , Giambartolomei C, ..., Casas JP, O’Donnell CJ
Nat Commun 9 (1) - [2018-12-00; online 2018-12-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome sequencing and conservation genomics in the Scandinavian wolverine population
Ekblom R, Brechlin B, Persson J, ..., Flagstad Ø, Ellegren H
Conservation Biology 32 (6) 1301-1312 [2018-12-00; online 2018-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effects of predation stress and food ration on perch gut microbiota
Zha Y, Eiler A, Johansson F, Svanbäck R
SRA: SRP090413
Microbiome 6 (1) - [2018-12-00; online 2018-02-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Investigation of the Ciliate Spirostomum semivirescens, with First Transcriptome and New Geographical Records
Hines HN, Onsbring H, Ettema TJG, Esteban GF
Protist 169 (6) 875-886 [2018-12-00; online 2018-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of porcine body size variation using re-sequencing data of miniature and large pigs
Reimer C, Rubin CJ, Sharifi AR, ..., Schlather M, Simianer H
Dryad: https://doi.org/10.5061/dryad.3jj7f SRA: ERP001813 SRA: SRA051254 SRA: SRR578029 SRA: SRR578191 SRA: SRR578192 BioProject: PRJEB27654
BMC Genomics 19 (1) - [2018-12-00; online 2018-09-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Linking FOXO3, NCOA3, and TCF7L2 to Ras pathway phenotypes through a genome-wide forward genetic screen in human colorectal cancer cells
Kundu S, Ali MA, Handin N, ..., Hellström M, Sjöblom T
BioProject: PRJNA419878 https://www.ebi.ac.uk/pride/archive/: PXD008382
Genome Med 10 (1) - [2018-12-00; online 2018-01-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Individual Genetic Variation Might Predict Acute Skin Reactions in Women Undergoing Adjuvant Breast Cancer Radiotherapy.
Oliva D, Nilsson M, Strandéus M, ..., Laytragoon-Lewin N, Lewin F
pii: 38/12/6763
Anticancer Res. 38 (12) 6763-6770 [2018-12-00; online 2018-12-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomes from uncultivated prokaryotes: a comparison of metagenome-assembled and single-amplified genomes
Alneberg J, Karlsson CMG, Divne AM, ..., Andersson AF, Pinhassi J
BioProject: PRJNA273799 SRA: SRP058493
Microbiome 6 (1) - [2018-12-00; online 2018-09-28]
Bioinformatics Compute and Storage [Service] Microbial Single Cell Genomics [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Out in the Cold: Identification of Genomic Regions Associated With Cold Tolerance in the Biocontrol Fungus Clonostachys rosea Through Genome-Wide Association Mapping
Broberg M, Dubey M, Sun MH, ..., Brandström Durling M, Karlsson M
Front Microbiol 9 (-) 2844 [2018-11-22; online 2018-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity
Marklund M, Morris A, Mahajan A, ..., Lind L, Risérus U
Nutrients 10 (11) 1791 [2018-11-17; online 2018-11-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Integrated epigenomic and transcriptomic analysis reveals TP63 as a novel player in clinically aggressive chronic lymphocytic leukemia
Papakonstantinou N, Ntoufa S, Tsagiopoulou M, ..., Rosenquist R, Stamatopoulos K
Int. J. Cancer - (-) - [2018-11-16; online 2018-11-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diet-dependent gene expression highlights the importance of Cytochrome P450 in detoxification of algal secondary metabolites in a marine isopod.
De Wit P, Yamada K, Panova M, André C, Johannesson K
pii: 10.1038/s41598-018-34937-z pmc: PMC6235865
Sci Rep 8 (1) 16824 [2018-11-14; online 2018-11-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative Analysis of Three RNA Sequencing Methods Identifies Mutually Exclusive Exons of MADS-Box Isoforms During Early Bud Development in Picea abies
Akhter S, Kretzschmar WW, Nordal V, ..., Emanuelsson O, Sundström JF
Front Plant Sci 9 (-) - [2018-11-13; online 2018-11-13]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Asexual reproduction and growth rate: independent and plastic life history traits in Neurospora crassa
Anderson JL, Nieuwenhuis BPS, Johannesson H
ISME J 13 (3) 780-788 [2018-11-09; online 2018-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Computational and Statistical Analysis of Array-Based DNA Methylation Data.
Nordlund J, Bäcklin C, Raine A
Methods Mol. Biol. 1878 (-) 173-191 [2018-11-01; online 2018-11-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
Ligthart S, Vaez A, Võsa U, ..., Frayling TM, Slagboom EP
The American Journal of Human Genetics 103 (5) 691-706 [2018-11-00; online 2018-11-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Mahajan A, Taliun D, Thurner M, ..., Boehnke M, McCarthy MI
pii: 10.1038/s41588-018-0241-6 pmc: PMC6287706 mid: EMS80721
Nat. Genet. 50 (11) 1505-1513 [2018-11-00; online 2018-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomes of two archaeal endosymbionts show convergent adaptations to an intracellular lifestyle
Lind AE, Lewis WH, Spang A, ..., Embley TM, Ettema TJG
BioProject: PRJNA380999
ISME J 12 (11) 2655-2667 [2018-11-00; online 2018-07-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-level associations in suicide attempter families show overrepresentation of synaptic genes and genes differentially expressed in brain development
Sokolowski M, Wasserman J, Wasserman D
Am. J. Med. Genet. - (-) - [2018-10-31; online 2018-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cigarette smoking affects microRNAs and inflammatory biomarkers in healthy individuals and an association to single nucleotide polymorphisms is indicated
Andersson BÅ, Sayardoust S, Löfgren S, Rutqvist LE, Laytragoon-Lewin N
Biomarkers - (-) 1-17 [2018-10-30; online 2018-10-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dynamics of a Perturbed Microbial Community during Thermophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds
Šafarič L, Shakeri Yekta S, Liu T, ..., Bastviken D, Björn A
SRA: SRP149871
Microorganisms 6 (4) 105 [2018-10-11; online 2018-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
Ameur A, Che H, Martin M, ..., Feuk L, Gyllensten U
Genes 9 (10) 486 [2018-10-09; online 2018-10-09]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It
Bolívar P, Mugal CF, Rossi M, ..., Dutoit L, Ellegren H
SRA: ERP001377
- 35 (10) 2475-2486 [2018-10-01; online 2018-08-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic architecture of traits associated with reproductive barriers in Silene: Coupling, sex chromosomes and variation
Liu X, Karrenberg S
Mol Ecol 27 (19) 3889-3904 [2018-10-00; online 2018-04-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia
Gunnarsson R, Dilorenzo S, Lundin-Ström KB, ..., Isaksson A, Johansson B
EGA: EGAS00001001795
Leukemia 32 (10) 2117-2125 [2018-10-00; online 2018-03-12]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancient genomes suggest the eastern Pontic-Caspian steppe as the source of western Iron Age nomads
Krzewińska M, Kılınç GM, Juras A, ..., Storå J, Götherström A
Sci Adv 4 (10) eaat4457 [2018-10-00; online 2018-10-03]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Interferon-α enhances the IL-12-induced STAT4 activation selectively in carriers of the STAT4 SLE risk allele rs7574865[T].
Hagberg N, Rönnblom L
pii: annrheumdis-2018-213836
Ann. Rheum. Dis. - (-) - [2018-09-29; online 2018-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins
Wang Y, Karlsson R, Lampa E, ..., Pedersen NL, Hägg S
EBI: E-MTAB-7309
Epigenetics - (-) - [2018-09-28; online 2018-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methanogens and Iron-Reducing Bacteria: the Overlooked Members of Mercury-Methylating Microbial Communities in Boreal Lakes
Bravo AG, Peura S, Buck M, ..., Björn E, Bertilsson S
Appl Environ Microbiol 84 (23) - [2018-09-21; online 2018-11-15]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The all-intracellular order Legionellales is unexpectedly diverse, globally distributed and lowly abundant
Graells T, Ishak H, Larsson M, Guy L
FEMS Microbiol. Ecol. - (-) - [2018-09-10; online 2018-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex Evolutionary History of Translation Elongation Factor 2 and Diphthamide Biosynthesis in Archaea and Parabasalids
Narrowe AB, Spang A, Stairs CW, ..., Miller CS, Ettema TJG
Genome Biol Evol 10 (9) 2380-2393 [2018-09-01; online 2018-08-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
Bazov I, Sarkisyan D, Kononenko O, ..., Yakovleva T, Bakalkin G
pii: 4049562
Cereb. Cortex 28 (9) 3129-3142 [2018-09-01; online 2017-10-03]
Bioinformatics Compute and Storage [Service] Fluorescence Tissue Profiling [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli C, Chaffin MD, Weng LC, ..., Lunetta KL, Ellinor PT
pii: 10.1038/s41588-018-0133-9 pmc: PMC6136836 mid: NIHMS986675
Nat. Genet. 50 (9) 1225-1233 [2018-09-00; online 2018-06-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-biased gene expression, sexual antagonism and levels of genetic diversity in the collared flycatcher (Ficedula albicollis) genome
Dutoit L, Mugal CF, Bolívar P, ..., Gustafsson L, Ellegren H
BioProject: PRJEB2984 SRA: ERP001377
Mol Ecol 27 (18) 3572-3581 [2018-09-00; online 2018-09-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sequentially acting SOX proteins orchestrate astrocyte‐ and oligodendrocyte‐specific gene expression
Klum S, Zaouter C, Alekseenko Z, ..., Muhr J, Bergsland M
EMBO Rep. - (-) e46635 [2018-08-30; online 2018-08-30]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel Autotrophic Organisms Contribute Significantly to the Internal Carbon Cycling Potential of a Boreal Lake
Peura S, Buck M, Aalto SL, ..., Nykänen H, Eiler A
SRA: SRP076290
MBio 9 (4) - [2018-08-14; online 2018-08-14]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extensive genomic diversity among Mycobacterium marinum strains revealed by whole genome sequencing
Das S, Pettersson F, Behra PRK, ..., Ennis DG, Kirsebom L
Sci. Rep. 8 (1) - [2018-08-13; online 2018-08-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clonal relatedness in tumour pairs of breast cancer patients.
Biermann J, Parris TZ, Nemes S, ..., Karlsson P, Helou K
pii: 10.1186/s13058-018-1022-y GEO: GSE97293 GEO: GSE97177
Breast Cancer Res. 20 (1) 96 [2018-08-09; online 2018-08-09]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genetic map of ostrich Z chromosome and the role of inversions in avian sex chromosome evolution.
Papoli Yazdi H, Ellegren H
pii: 5067707
Genome Biol Evol - (-) - [2018-08-07; online 2018-08-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Substrate-Induced Response in Biogas Process Performance and Microbial Community Relates Back to Inoculum Source
Liu T, Sun L, Nordberg Å, Schnürer A
Microorganisms 6 (3) 80 [2018-08-05; online 2018-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Investigation of viable taxa in the deep terrestrial biosphere suggests high rates of nutrient recycling
Lopez-Fernandez M, Broman E, Turner S, ..., Bertilsson S, Dopson M
BioProject: PRJNA431355 SRA: SRP131350
FEMS Microbiol. Ecol. 94 (8) - [2018-08-01; online 2018-06-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetics in pediatric acute lymphoblastic leukemia.
Nordlund J, Syvänen AC
pii: S1044-579X(17)30091-3
Semin. Cancer Biol. 51 (-) 129-138 [2018-08-00; online 2017-09-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-specific manifestation of genetic risk for attention deficit hyperactivity disorder in the general population.
Martin J, Taylor MJ, Rydell M, ..., Thapar A, Lichtenstein P
pmc: PMC6055636
J Child Psychol Psychiatry 59 (8) 908-916 [2018-08-00; online 2018-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Acute sleep loss results in tissue-specific alterations in genome-wide DNA methylation state and metabolic fuel utilization in humans
Cedernaes J, Schönke M, Westholm JO, ..., Zierath JR, Benedict C
Sci Adv 4 (8) eaar8590 [2018-08-00; online 2018-08-22]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Proteome‐wide analysis of phospho‐regulated PDZ domain interactions
Sundell GN, Arnold R, Ali M, ..., Chi CN, Ivarsson Y
Mol. Syst. Biol. 14 (8) e8129 [2018-08-00; online 2018-08-20]
Drug Discovery and Development (DDD) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Lee JJ, Wedow R, Okbay A, ..., Benjamin DJ, Cesarini D
pii: 10.1038/s41588-018-0147-3
Nat. Genet. 50 (8) 1112-1121 [2018-08-00; online 2018-07-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prenatal arsenic exposure is associated with increased plasma IGFBP3 concentrations in 9-year-old children partly via changes in DNA methylation.
Gliga AR, Engström K, Kippler M, ..., Raqib R, Broberg K
pii: 10.1007/s00204-018-2239-3 pmc: PMC6063321
Arch. Toxicol. 92 (8) 2487-2500 [2018-08-00; online 2018-06-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat
Sigeman H, Ponnikas S, Videvall E, ..., Naurin S, Hansson B
Genes 9 (8) 373 [2018-07-26; online 2018-07-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The psoriasis risk allele HLA-Cw0602 shows evidence of association with chronic or recurrent streptococcal tonsillitis.
Haapasalo K, Koskinen LLE, Suvilehto J, ..., Jokiranta TS, Saavalainen P
pii: IAI.00304-18
Infect. Immun. - (-) - [2018-07-23; online 2018-07-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, ..., Harila-Saari A, Nordgren A
Br. J. Haematol. - (-) - [2018-07-13; online 2018-07-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.
Baskaran S, Mayrhofer M, Kultima HG, ..., Isaksson A, Nelander S
pii: 4860173
Neuro-oncology 20 (8) 1080-1091 [2018-07-05; online 2018-02-21]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Savage JE, Jansen PR, Stringer S, ..., Wright MJ, Posthuma D
pii: 10.1038/s41588-018-0152-6
Nat. Genet. 50 (7) 912-919 [2018-07-00; online 2018-06-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The mycoparasitic fungus Clonostachys rosea responds with both common and specific gene expression during interspecific interactions with fungal prey
Nygren K, Dubey M, Zapparata A, ..., Jensen DF, Karlsson M
SRA: SRX3389264 SRA: SRX3389265 SRA: SRX3389266 SRA: SRX3389267 SRA: SRX3389268 SRA: SRX3389269
Evol Appl 11 (6) 931-949 [2018-07-00; online 2018-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology.
Brikell I, Larsson H, Lu Y, ..., Lichtenstein P, Martin J
pii: 10.1038/s41380-018-0109-2
Mol. Psychiatry - (-) - [2018-06-22; online 2018-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Feitosa MF, Kraja AT, Chasman DI, ..., Province MA, Levy D
pii: PONE-D-18-04838 dbGaP: phs000930
PLoS ONE 13 (6) e0198166 [2018-06-18; online 2018-06-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Presence of Aedes and Anopheles mosquito larvae is correlated to bacteria found in domestic water-storage containers
Nilsson LKJ, Sharma A, Bhatnagar RK, Bertilsson S, Terenius O
BioProject: PRJEB23603
FEMS Microbiol. Ecol. 94 (6) - [2018-06-01; online 2018-03-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Paternally expressed imprinted genes associate with hybridization barriers in Capsella
Lafon-Placette C, Hatorangan MR, Steige KA, ..., Slotte T, Köhler C
GEO: GSE103209
NPLANTS 4 (6) 352-357 [2018-06-00; online 2018-05-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed
A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.
Pasandideh M, Rahimi-Mianji G, Gholizadeh M
J. Genet. 97 (2) 493-503 [2018-06-00; online 2018-06-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.
Parker WAE, Eriksson N, Becker RC, ..., Storey RF, PLATO Investigators
Platelets - (-) 1-10 [2018-05-31; online 2018-05-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson D, Bianchi M, Landegren N, ..., Rosengren Pielberg G, Kämpe O
pii: 10.1038/s41598-018-26842-2 pmc: PMC5976627
Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Davies G, Lam M, Harris SE, ..., Lencz T, Deary IJ
pii: 10.1038/s41467-018-04362-x pmc: PMC5974083
Nat Commun 9 (1) 2098 [2018-05-29; online 2018-05-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia.
Chen X, Gustafsson S, Whitington T, ..., Frostegård J, Magnusson PKE
pii: 4935077
Hum. Mol. Genet. 27 (10) 1809-1818 [2018-05-15; online 2018-03-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.
Zhou A, Taylor AE, Karhunen V, ..., Llewellyn DJ, Hyppönen E
pii: 10.1038/s41598-018-25919-2 pmc: PMC5951917
Sci Rep 8 (1) 7526 [2018-05-14; online 2018-05-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.
de Oliveira Otto MC, Lemaitre RN, Sun Q, ..., Siscovick DS, Mozaffarian D
pii: PONE-D-18-05019 pmc: PMC5940220
PLoS ONE 13 (5) e0196951 [2018-05-08; online 2018-05-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Wray NR, Ripke S, Mattheisen M, ..., Sullivan PF, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
pii: 10.1038/s41588-018-0090-3 pmc: PMC5934326 mid: NIHMS943355
Nat. Genet. 50 (5) 668-681 [2018-05-00; online 2018-04-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus
Wadelius M, Eriksson N, Kreutz R, ..., Hallberg P, None
Clin Pharmacol Ther 103 (5) 843-853 [2018-05-00; online 2017-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Host genetic variation strongly influences the microbiome structure and function in fungal fruiting-bodies
Pent M, Hiltunen M, Põldmaa K, ..., Ryberg M, Bahram M
www.mg-rast.org: mgp20495
Environ Microbiol 20 (5) 1641-1650 [2018-05-00; online 2018-03-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcription profiling of peripheral B cells in antibody-positive primary Sjögren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature
Imgenberg-Kreuz J, Sandling JK, Björk A, ..., Syvänen AC, Nordmark G
Scand J Immunol 87 (5) e12662 [2018-05-00; online 2018-04-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.
Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, ..., Syvänen AC, Sandling JK
pii: annrheumdis-2017-212379 pmc: PMC5909746
Ann. Rheum. Dis. 77 (5) 736-743 [2018-05-00; online 2018-02-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Eleven loci with new reproducible genetic associations with allergic disease risk.
Ferreira MAR, Vonk JM, Baurecht H, ..., Koppelman GH, Paternoster L
pii: S0091-6749(18)30558-X
J. Allergy Clin. Immunol. - (-) - [2018-04-19; online 2018-04-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome.
Bonfiglio F, Henström M, Nag A, ..., Zhernakova A, D'Amato M
GENBANK: rs17112758
Neurogastroenterol. Motil. - (-) e13358 [2018-04-19; online 2018-04-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Data quality of whole genome bisulfite sequencing on Illumina platforms.
Raine A, Liljedahl U, Nordlund J
pii: PONE-D-17-37428 pmc: PMC5905984 BioProject: PRJNA407440 GEO: GSE89213
PLoS ONE 13 (4) e0195972 [2018-04-18; online 2018-04-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Genetic and Environmental Contributions to the Covariation Between Cardiometabolic Traits.
Chen X, Kuja-Halkola R, Chang Z, ..., Pedersen NL, Magnusson PKE
pii: JAHA.117.007806
J Am Heart Assoc 7 (9) - [2018-04-18; online 2018-04-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Female-specific Association Between Variants on Chromosome 9 and Self-reported Diagnosis of Irritable Bowel Syndrome.
Bonfiglio F, Zheng T, Garcia-Etxebarria K, ..., Zhernakova A, D'Amato M
pii: S0016-5085(18)30407-4
Gastroenterology - (-) - [2018-04-04; online 2018-04-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA Sequencing of Stentor Cell Fragments Reveals Transcriptional Changes during Cellular Regeneration
Onsbring H, Jamy M, Ettema TJG
GENBANK: GGGV00000000 SRA: SRP132767 data.mendeley.com: https://doi.org/10.17632/nmgz3m3ptn.1
Current Biology 28 (8) 1281-1288.e3 [2018-04-00; online 2018-04-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An in vitro evaluation of browser and grazer fermentation efficiency and microbiota using European moose spring and summer foods
Krizsan SJ, Mateos-Rivera A, Bertilsson S, ..., Gidlund H, Huhtanen P
Ecol Evol 8 (8) 4183-4196 [2018-04-00; online 2018-03-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A, Wessel J, Willems SM, ..., Rotter JI, McCarthy MI
pii: 10.1038/s41588-018-0084-1 pmc: PMC5898373 mid: NIHMS938867
Nat. Genet. 50 (4) 559-571 [2018-04-00; online 2018-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Malik R, Chauhan G, Traylor M, ..., MEGASTROKE Consortium , MEGASTROKE Consortium:
pii: 10.1038/s41588-018-0058-3
Nat. Genet. 50 (4) 524-537 [2018-04-00; online 2018-03-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia
Valdiosera C, Günther T, Vera-Rodríguez JC, ..., Smith CI, Jakobsson M
BioProject: PRJEB23467
Proc Natl Acad Sci USA 115 (13) 3428-3433 [2018-03-27; online 2018-03-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents.
Ciuculete DM, Boström AE, Tuunainen AK, ..., Mwinyi J, Schiöth HB
pii: S0022-3956(17)31054-3
J Psychiatr Res 102 (-) 44-51 [2018-03-26; online 2018-03-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood.
Jiang J, Thalamuthu A, Ho JE, ..., Sachdev PS, Mather KA
pmc: PMC5876753
Front Genet 9 (-) 97 [2018-03-23; online 2018-03-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.
Jiao X, Liu W, Mahdessian H, ..., Dunlop M, Lindblom A
pii: PONE-D-17-41609 pmc: PMC5856271
PLoS ONE 13 (3) e0193547 [2018-03-16; online 2018-03-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
Coleman JRI, Bryois J, Gaspar HA, ..., Posthuma D, Breen G
pii: 10.1038/s41380-018-0040-6
Mol. Psychiatry - (-) - [2018-03-08; online 2018-03-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, Thorleifsson G, Gretarsdottir S, ..., Holm H, Stefansson K
pii: 10.1038/s41467-018-03252-6 pmc: PMC5840367
Nat Commun 9 (1) 987 [2018-03-07; online 2018-03-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
Leonard D, Svenungsson E, Dahlqvist J, ..., Criswell LA, Rönnblom L
pii: annrheumdis-2017-212614
Ann. Rheum. Dis. - (-) - [2018-03-07; online 2018-03-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Global analysis of A-to-I RNA editing reveals association with common disease variants
Franzén O, Ermel R, Sukhavasi K, ..., Schadt EE, Björkegren JLM
PeerJ 6 (-) e4466 [2018-03-06; online 2018-03-06]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia.
Borssén M, Nordlund J, Haider Z, ..., Lönnerholm G, Degerman S
pii: 466 pmc: PMC5836434
Clin Epigenetics 10 (-) 31 [2018-03-05; online 2018-03-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
Sung YJ, Winkler TW, de Las Fuentes L, ..., Rao DC, Chasman DI
pii: S0002-9297(18)30017-X
Am. J. Hum. Genet. 102 (3) 375-400 [2018-03-01; online 2018-02-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic variants influencing phenotypic variance heterogeneity.
Ek WE, Rask-Andersen M, Karlsson T, ..., Gyllensten U, Johansson Å
pii: 4792998
Hum. Mol. Genet. 27 (5) 799-810 [2018-03-01; online 2018-01-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic signatures of 60 years of bidirectional selection for 8-week body weight in chickens
Lillie M, Sheng ZY, Honaker CF, ..., Siegel PB, Carlborg Ö
Poult. Sci. 97 (3) 781-790 [2018-03-01; online 2017-12-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The fungus that came in from the cold: dry rot’s pre-adapted ability to invade buildings
Balasundaram SV, Hess J, Durling MB, ..., Eastwood DC, Skrede I
BioProject: PRJNA412961 Dryad: https://doi.org/10.5061/dryad.28sb6
ISME J 12 (3) 791-801 [2018-03-00; online 2018-01-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Geobacteraceae are important members of mercury-methylating microbial communities of sediments impacted by waste water releases
Bravo AG, Zopfi J, Buck M, ..., Poté J, Cosio C
BioProject: PRJEB20838
ISME J 12 (3) 802-812 [2018-03-00; online 2018-01-10]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cleaner fish escape salmon farms and hybridize with local wrasse populations
Faust E, Halvorsen KT, Andersen P, Knutsen H, André C
BioProject: PRJNA415388 Dryad: https://doi.org/10.5061/dryad.tv553
R. Soc. open sci. 5 (3) 171752 [2018-03-00; online 2018-03-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The ZBED6–IGF2 axis has a major effect on growth of skeletal muscle and internal organs in placental mammals
Younis S, Schönke M, Massart J, ..., Zierath JR, Andersson L
SRA: SRP128271
Proc Natl Acad Sci USA 115 (9) E2048-E2057 [2018-02-27; online 2018-02-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE
Hagberg N, Joelsson M, Leonard D, ..., Bryceson YT, Rönnblom L
pii: annrheumdis-2017-212794
Ann. Rheum. Dis. - (-) - [2018-02-23; online 2018-02-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Targeted Long-Read Sequencing of a Locus Under Long-Term Balancing Selection in Capsella
Bachmann JA, Tedder A, Laenen B, Steige KA, Slotte T
BioProject: PRJEB24927
G3 (Bethesda) 8 (4) 1327-1333 [2018-02-23; online 2018-02-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disruption of Accumbens and Thalamic White Matter Connectivity Revealed by Diffusion Tensor Tractography in Young Men with Genetic Risk for Obesity
Olivo G, Latini F, Wiemerslage L, Larsson EM, Schiöth HB
Front Hum Neurosci 12 (-) - [2018-02-22; online 2018-02-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Two novel colorectal cancer risk loci in the region on chromosome 9q22.32
Thutkawkorapin J, Mahdessian H, Barber T, ..., Jiao X, Lindblom A
Oncotarget 9 (13) - [2018-02-16; online 2018-01-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
CheckQC: Quick quality control of Illumina sequencing runs
Åslin M, Brandt M, Dahlberg J
JOSS 3 (22) 556 [2018-02-05; online 2018-02-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
DOI Crossref
De novo mutations implicate novel genes in systemic lupus erythematosus
Pullabhatla V, Roberts AL, Lewis MJ, ..., Syvänen AC, Vyse TJ
Hum Mol Genet 27 (3) 421-429 [2018-02-01; online 2017-11-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Slow evolution of sex-biased genes in the reproductive tissue of the dioecious plant Salix viminalis
Darolti I, Wright AE, Pucholt P, Berlin S, Mank JE
BioProject: PRJEB15050
Mol Ecol 27 (3) 694-708 [2018-02-00; online 2018-01-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Formation of mercury methylation hotspots as a consequence of forestry operations
Eklöf K, Bishop K, Bertilsson S, ..., Kronberg RM, Bravo AG
Science of The Total Environment 613-614 (-) 1069-1078 [2018-02-00; online 2018-02-00]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
Stamouli S, Anderlid BM, Willfors C, ..., Tammimies K, Bölte S
pii: S183242741700069X
Twin Res Hum Genet 21 (1) 1-11 [2018-02-00; online 2018-01-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transposon-derived small RNAs triggered by miR845 mediate genome dosage response in Arabidopsis
Borges F, Parent JS, van Ex F, ..., Köhler C, Martienssen RA
GEO: GSE106117 GEO: GSE106112 GEO: GSE106113 GEO: GSE106114 GEO: GSE106115 SRA: SRP121332 BioProject: PRJNA415632
Nat Genet 50 (2) 186-192 [2018-02-00; online 2018-01-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A DNA methylation biomarker of alcohol consumption.
Liu C, Marioni RE, Hedman ÅK, ..., Ingelsson E, Levy D
pii: mp2016192 pmc: PMC5575985 mid: NIHMS855941 dbGaP: phs000930
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Paternal easiRNAs regulate parental genome dosage in Arabidopsis
Martinez G, Wolff P, Wang Z, ..., Slotkin RK, Köhler C
GEO: GSE84122
Nat Genet 50 (2) 193-198 [2018-02-00; online 2018-01-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene expression profiling across ontogenetic stages in the wood white (Leptidea sinapis) reveals pathways linked to butterfly diapause regulation.
Leal L, Talla V, Källman T, ..., Vila R, Backström N
BioProject: PRJEB24745 ArrayExpress: E‐MTAB‐6454
Mol. Ecol. 27 (4) 935-948 [2018-02-00; online 2018-02-26]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dispersal timing determines the importance of priority effects in bacterial communities
Svoboda P, Lindström ES, Ahmed Osman O, Langenheder S
ISME J 12 (2) 644-646 [2018-02-00; online 2017-10-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus
Houtman M, Shchetynsky K, Chemin K, ..., Malmström V, Padyukov L
Journal of Autoimmunity 90 (-) 28-38 [2018-02-00; online 2018-02-00]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Demography and mating system shape the genome-wide impact of purifying selection inArabis alpina
Laenen B, Tedder A, Nowak MD, ..., Coupland G, Slotte T
Proc Natl Acad Sci USA 115 (4) 816-821 [2018-01-23; online 2018-01-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetical genomics of growth in a chicken model.
Johnsson M, Henriksen R, Höglund A, ..., Jensen P, Wright D
pii: 10.1186/s12864-018-4441-3 pmc: PMC5782384 ArrayExpress: E-MTAB-5572
BMC Genomics 19 (1) 72 [2018-01-23; online 2018-01-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
Jiang X, O'Reilly PF, Aschard H, ..., Kraft P, Kiel DP
pii: 10.1038/s41467-017-02662-2 pmc: PMC5772647
Nat Commun 9 (1) 260 [2018-01-17; online 2018-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of exome array data identifies six novel genetic loci for lung function.
Jackson VE, Latourelle JC, Wain LV, ..., Tobin MD, London SJ
pmc: PMC6081985
Wellcome Open Res 3 (-) 4 [2018-01-12; online 2018-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rapid hybrid speciation in Darwin’s finches
Lamichhaney S, Han F, Webster MT, ..., Grant BR, Grant PR
SRA: PRJNA392917 TreeBASE: S21803
Science 359 (6372) 224-228 [2018-01-12; online 2017-11-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of shared genetic variants between schizophrenia and lung cancer.
Zuber V, Jönsson EG, Frei O, ..., Mills IG, Andreassen OA
pii: 10.1038/s41598-017-16481-4 pmc: PMC5766533
Sci Rep 8 (1) 674 [2018-01-12; online 2018-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation
Günther T, Malmström H, Svensson EM, ..., Götherström A, Jakobsson M
BioProject: PRJEB21940
PLoS Biol. 16 (1) e2003703 [2018-01-09; online 2018-01-09]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Angiopoietin-1 deficiency increases renal capillary rarefaction and tubulointerstitial fibrosis in mice
Loganathan K, Salem Said E, Winterrowd E, ..., Quaggin SE, Jeansson M
PLoS ONE 13 (1) e0189433 [2018-01-02; online 2018-01-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
Eriksson D, Dalin F, Eriksson GN, ..., Munoz KD, None
J Clin Endocrinol Metab 103 (1) 179-186 [2018-01-01; online 2017-10-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V, Lu Y, Highland HM, ..., MAGIC Investigators , Understanding Society Scientific Group
pii: 10.1038/s41588-017-0011-x pmc: PMC5945951 mid: NIHMS920811
Nat. Genet. 50 (1) 26-41 [2018-01-00; online 2017-12-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
Jokinen J, Boström AE, Dadfar A, ..., Åsberg M, Schiöth HB
pii: S2352-3964(17)30499-1 pmc: PMC5828554
EBioMedicine 27 (-) 123-133 [2018-01-00; online 2017-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Abundant recent activity of retrovirus-like retrotransposons within and among flycatcher species implies a rich source of structural variation in songbird genomes
Suh A, Smeds L, Ellegren H
Mol Ecol 27 (1) 99-111 [2018-01-00; online 2017-12-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic consequences of intensive inbreeding in an isolated wolf population
Kardos M, Åkesson M, Fountain T, ..., Wikenros C, Ellegren H
BioProject: PRJEB20635
Nat Ecol Evol 2 (1) 124-131 [2018-01-00; online 2017-11-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2017

PubMed DOI Crossref
Methylation-based estimated biological age and cardiovascular disease
Lind L, Ingelsson E, Sundström J, Siegbahn A, Lampa E
Eur J Clin Invest - (-) e12872 [2017-12-27; online 2017-12-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis
Bohman A, Juodakis J, Oscarsson M, ..., Bende M, Torinsson Naluai Å
EGA: EGAD00010001447
PLoS ONE 12 (12) e0185244 [2017-12-18; online 2017-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CELSR2 is a candidate susceptibility gene in idiopathic scoliosis
Einarsdottir E, Grauers A, Wang J, ..., Kere J, Gerdhem P
ENA: PRJEB22953
PLoS ONE 12 (12) e0189591 [2017-12-14; online 2017-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Overexpression of PaNAC03, a stress induced NAC gene family transcription factor in Norway spruce leads to reduced flavonol biosynthesis and aberrant embryo development
Dalman K, Wind JJ, Nemesio-Gorriz M, ..., Ezcurra I, Elfstrand M
BioProject: PRJNA350779 SRA: SRP093366
BMC Plant Biol. 17 (1) - [2017-12-00; online 2017-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
Marincevic-Zuniga Y, Dahlberg J, Nilsson S, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) - [2017-12-00; online 2017-08-14]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Zillikens MC, Demissie S, Hsu YH, ..., Ohlsson C, Kiel DP
Nat Commun 8 (1) - [2017-12-00; online 2017-07-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic- and Lifestyle-dependent Dental Caries Defined by the Acidic Proline-rich Protein Genes PRH1 and PRH2
Strömberg N, Esberg A, Sheng N, ..., Danielsson K, Källestål C
EBioMedicine 26 (-) 38-46 [2017-12-00; online 2017-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide standing variation facilitates long-term response to bidirectional selection for antibody response in chickens
Lillie M, Sheng Z, Honaker CF, ..., Siegel PB, Carlborg Ö
SRA: SRP094614 SRA: SRX2398013 SRA: SRX2398014 SRA: SRX2398015 SRA: SRX2398018
BMC Genomics 18 (1) - [2017-12-00; online 2017-01-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mapping of leptin and its syntenic genes to chicken chromosome 1p
Seroussi E, Pitel F, Leroux S, ..., Anderson L, Friedman-Einat M
BioProject: PRJEB18741
BMC Genet. 18 (1) - [2017-12-00; online 2017-08-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA-sequence data normalization through in silico prediction of reference genes: the bacterial response to DNA damage as case study
Berghoff BA, Karlsson T, Källman T, Wagner EGH, Grabherr MG
BioData Mining 10 (1) - [2017-12-00; online 2017-09-05]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft genome of the brown-rot fungus Fomitopsis pinicola GR9-4
Kancherla RP, Durling MB, Stenlid J, Högberg N
BioProject: PRJNA354689
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] National Genomics Infrastructure [Service]
DOI Crossref
Heterogeneous Patterns of Genetic Diversity and Differentiation in European and Siberian Chiffchaff (Phylloscopus collybita abietinus/P. tristis)
Talla V, Kalsoom F, Shipilina D, Marova I, Backström N
BioProject: PRJEB21643 SRA: ERP023915
G3 (Bethesda) 7 (12) 3983-3998 [2017-12-00; online 2017-10-20]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Influence of pulsed and continuous substrate inputs on freshwater bacterial community composition and functioning in bioreactors
Ricão Canelhas M, Andersson M, Eiler A, Lindström ES, Bertilsson S
SRA: SRP075169
Environ Microbiol 19 (12) 5078-5087 [2017-12-00; online 2017-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Drift, selection, or migration? Processes affecting genetic differentiation and variation along a latitudinal gradient in an amphibian
Cortázar-Chinarro M, Lattenkamp EZ, Meyer-Lucht Y, ..., Laurila A, Höglund J
BMC Evol. Biol. 17 (1) - [2017-12-00; online 2017-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel risk genes for systemic lupus erythematosus predicted by random forest classification
Almlöf JC, Alexsson A, Imgenberg-Kreuz J, ..., Sandling JK, Syvänen AC
Sci Rep 7 (1) - [2017-12-00; online 2017-07-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detection of QTL for greasy fleece weight in sheep using a 50 K single nucleotide polymorphism chip
Ebrahimi F, Gholizadeh M, Rahimi-Mianji G, Farhadi A
Trop Anim Health Prod 49 (8) 1657-1662 [2017-12-00; online 2017-08-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Correspondence on Lovell et al.: identification of chicken genes previously assumed to be evolutionarily lost
Bornelöv S, Seroussi E, Yosefi S, ..., Friedman-Einat M, Andersson L
Genome Biol. 18 (1) - [2017-12-00; online 2017-06-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
Thonberg H, Chiang HH, Lilius L, ..., Rönnbäck A, Graff C
Acta Neuropathol Commun 5 (1) - [2017-12-00; online 2017-06-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Cancer risk susceptibility loci in a Swedish population
Liu W, Jiao X, Thutkawkorapin J, Mahdessian H, Lindblom A
Oncotarget - (-) - [2017-11-25; online 2017-11-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA-Seq de novo assembly and differential transcriptome analysis of the nematode Ascaridia galli in relation to in vivo exposure to flubendazole
Martis MM, Tarbiat B, Tydén E, Jansson DS, Höglund J
BioProject: PRJEB20558
PLoS ONE 12 (11) e0185182 [2017-11-03; online 2017-11-03]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Brief Report: Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
Sharma R, Harris VM, Cavett J, ..., Sivils KL, Scofield RH
Arthritis Rheumatol 69 (11) 2187-2192 [2017-11-00; online 2017-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Scott RA, Scott LJ, Mägi R, ..., McCarthy MI, Prokopenko I
Diabetes 66 (11) 2888-2902 [2017-11-00; online 2017-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.
Kamble PG, Gustafsson S, Pereira MJ, ..., Eriksson JW, Ingelsson E
pmc: PMC5810227
Ups. J. Med. Sci. 122 (4) 234-242 [2017-11-00; online 2018-01-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative studies implicate matrix metalloproteinase-12 as a culprit gene for large-artery atherosclerotic stroke
Mahdessian H, Perisic Matic L, Lengquist M, ..., Mälarstig A, None
J Intern Med 282 (5) 429-444 [2017-11-00; online 2017-08-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U
pii: ejhg2017130 swefreq: swegen
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] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Vitamin and Amino Acid Auxotrophy in Anaerobic Consortia Operating under Methanogenic Conditions
Hubalek V, Buck M, Tan B, ..., Bertilsson S, Eiler A
mSystems 2 (5) e00038-17 [2017-10-31; online 2017-10-31]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ, Peloso GM, Yu H, ..., Willer CJ, Kathiresan S
pii: ng.3977
Nat. Genet. - (-) - [2017-10-30; online 2017-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira MA, Vonk JM, Baurecht H, ..., Koppelman GH, Paternoster L
pii: ng.3985
Nat. Genet. - (-) - [2017-10-30; online 2017-10-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rapid Increase in Genome Size as a Consequence of Transposable Element Hyperactivity in Wood-White (Leptidea) Butterflies.
Talla V, Suh A, Kalsoom F, ..., Wiklund C, Backström N
pii: 4091610 BioProject: PRJEB21838 GENBANK: FZQP00000000
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Evolution of Dark Matter in the Mitogenome of Seed Beetles
Sayadi A, Immonen E, Tellgren-Roth C, Arnqvist G
GENBANK: KY856743 GENBANK: KY856744 GENBANK: KY856745 GENBANK: KY942060 GENBANK: KY942061 GENBANK: KY942062 GENBANK: MF925724
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] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A MIR4646 associated methylation locus is hypomethylated in adolescent depression.
Boström AE, Ciuculete DM, Attwood M, ..., Mwinyi J, Schiöth HB
pii: S0165-0327(16)32420-X
J Affect Disord 220 (-) 117-128 [2017-10-01; online 2017-05-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The evolutionary history of the DMRT3 ‘Gait keeper’ haplotype
Staiger EA, Almén MS, Promerová M, ..., Rubin CJ, Andersson L
Anim Genet 48 (5) 551-559 [2017-10-00; online 2017-07-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
Zhao JJ, Halvardson J, Knaus A, ..., Thuresson AC, Feuk L
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic loci associated HLA-B*08:01 positive myasthenia gravis
Varade J, Wang N, Lim CK, ..., Xu X, Hammarström L
Journal of Autoimmunity - (-) - [2017-10-00; online 2017-10-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Artificial Selection Response due to Polygenic Adaptation from a Multilocus, Multiallelic Genetic Architecture
Zan Y, Sheng Z, Lillie M, ..., Siegel PB, Carlborg Ö
- 34 (10) 2678-2689 [2017-10-00; online 2017-07-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.
Strawbridge RJ, Silveira A, Hoed MD, ..., Hamsten A, IMPROVE study group
pii: S0021-9150(17)31317-5
Atherosclerosis 266 (-) 196-204 [2017-09-28; online 2017-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
Schlebusch CM, Malmström H, Günther T, ..., Lombard M, Jakobsson M
BioProject: PRJEB22660
Science - (-) eaao6266 [2017-09-28; online 2017-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epidemiological characterization of a nosocomial outbreak of extended spectrum β-lactamase Escherichia coli ST-131 confirms the clinical value of core genome multilocus sequence typing
Woksepp H, Ryberg A, Berglind L, Schön T, Söderman J
BioProject: PRJEB15588
APMIS - (-) - [2017-09-28; online 2017-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Anti-mycobacterial activity correlates with altered DNA methylation pattern in immune cells from BCG-vaccinated subjects.
Verma D, Parasa VR, Raffetseder J, ..., Netea M, Lerm M
pii: 10.1038/s41598-017-12110-2 pmc: PMC5615063
Sci Rep 7 (1) 12305 [2017-09-26; online 2017-09-26]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic risk scores and family history as predictors of schizophrenia in Nordic registers.
Lu Y, Pouget JG, Andreassen OA, ..., Werge T, Sullivan PF
pii: S0033291717002665
Psychol Med - (-) 1-9 [2017-09-25; online 2017-09-25]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
Wheeler E, Leong A, Liu CT, ..., None , None
MAGIC: https://www.magicinvestigators.org/downloads/
PLoS Med. 14 (9) e1002383 [2017-09-12; online 2017-09-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A practical guide to build de-novo assemblies for single tissues of non-model organisms: the example of a Neotropical frog
Montero-Mendieta S, Grabherr M, Lantz H, ..., Webster MT, Vilà C
SRA: SRP106442 GENBANK: GFNJ00000000 BioProject: PRJNA384528
PeerJ 5 (-) e3702 [2017-09-01; online 2017-09-01]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the KidneyNovelty and Significance
Wain LV, Vaez A, Jansen R, ..., None , None
GEO: GSE43974
Hypertension 70 (3) e4-e19 [2017-09-00; online 2017-07-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Regulation of gene expression is associated with tolerance of the Arctic copepod Calanus glacialis to CO2-acidified sea water
Bailey A, De Wit P, Thor P, ..., Thompson C, Hop H
BioProject: PRJNA352656 SRA: SRP092884
Ecol Evol 7 (18) 7145-7160 [2017-09-00; online 2017-08-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
Ahsan M, Ek WE, Rask-Andersen M, ..., Gyllensten U, Johansson Å
pii: PGENETICS-D-17-00622 pmc: PMC5617224 GEO: GSE87571
PLoS Genet. 13 (9) e1007005 [2017-09-00; online 2017-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.
Brænne I, Willenborg C, Tragante V, ..., Erdmann J, Schunkert H
pii: 10.1038/s41598-017-10928-4 pmc: PMC5579257
Sci Rep 7 (1) 10252 [2017-08-31; online 2017-08-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk
Brænne I, Zeng L, Willenborg C, ..., None , None
PLoS ONE 12 (8) e0182999 [2017-08-22; online 2017-08-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tea and coffee consumption in relation to DNA methylation in four European cohorts.
Ek WE, Tobi EW, Ahsan M, ..., Johansson Å, Epigenome-Wide Association Study Consortium
pii: 3848993
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic exploration of the diversity, ecology, and evolution of the archaeal domain of life
Spang A, Caceres EF, Ettema TJG
Science 357 (6351) eaaf3883 [2017-08-11; online 2017-08-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparison of four DNA extraction methods for comprehensive assessment of 16S rRNA bacterial diversity in marine biofilms using high-throughput sequencing
Corcoll N, Österlund T, Sinclair L, ..., Backhaus T, Eriksson KM
BioProject: PRJNA378915
FEMS Microbiol. Lett. 364 (14) - [2017-08-01; online 2017-06-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
Manousaki D, Dudding T, Haworth S, ..., Timpson NJ, Richards JB
The American Journal of Human Genetics 101 (2) 227-238 [2017-08-00; online 2017-08-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
CKM Glu83Gly Is Associated With Blunted Creatine Kinase Variation, but Not With Myalgia
Siddiqui MK, Veluchamy A, Maroteau C, ..., Chasman DI, Palmer CNA
Circ Cardiovasc Genet 10 (4) e001737 [2017-08-00; online 2017-08-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genome-Wide Association Study of Angioedema Induced by Ace Inhibitors or Arbs in Sweden
Wadelius M, Eriksson N, Johansson C, ..., Magnusson PKE, Hallberg P
Clinical Therapeutics 39 (8) e76 [2017-08-00; online 2017-08-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Northeast African genomic variation shaped by the continuity of indigenous groups and Eurasian migrations.
Hollfelder N, Schlebusch CM, Günther T, ..., Hassan HY, Jakobsson M
pii: PGENETICS-D-17-00483 pmc: PMC5587336 Dryad: doi:10.5061/dryad.bs06h
PLoS Genet. 13 (8) e1006976 [2017-08-00; online 2017-08-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomewide patterns of variation in genetic diversity are shared among populations, species and higher-order taxa
Vijay N, Weissensteiner M, Burri R, ..., Ellegren H, Wolf JBW
Mol Ecol 26 (16) 4284-4295 [2017-08-00; online 2017-06-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Bioinformatic processing of RAD-seq data dramatically impacts downstream population genetic inference
Shafer ABA, Peart CR, Tusso S, ..., Wheat CW, Wolf JBW
BioProject: PRJNA349123 Dryad: https://doi.org/10.5061/dryad.q14c1 Dryad: https://doi.org/10.5061/dryad.8kn8c.2 Assembly: GCF_000349705.1 Assembly: GCF_000321225.1
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: an individual-based pooled analysis of 40 twin cohorts
Silventoinen K, Jelenkovic A, Sund R, ..., Sørensen TI, Kaprio J
Am J Clin Nutr 106 (2) 457-466 [2017-08-00; online 2017-07-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Poorly known microbial taxa dominate the microbiome of permafrost thaw ponds
Wurzbacher C, Nilsson RH, Rautio M, Peura S
BioProject: PRJEB18117
ISME J 11 (8) 1938-1941 [2017-08-00; online 2017-04-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome patterns of linkage disequilibrium across flycatcher populations clarify the causes and consequences of fine-scale recombination rate variation in birds
Kawakami T, Mugal CF, Suh A, ..., Smeds L, Ellegren H
BioProject: PRJEB7359 Dryad: https://doi.org/10.5061/dryad.hp5h2
Mol Ecol 26 (16) 4158-4172 [2017-08-00; online 2017-07-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Haploid selection within a single ejaculate increases offspring fitness
Alavioon G, Hotzy C, Nakhro K, ..., Maklakov AA, Immler S
Proc Natl Acad Sci USA 114 (30) 8053-8058 [2017-07-25; online 2017-07-11]
Genome Engineering Zebrafish [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association analyses based on false discovery rate implicate new loci for coronary artery disease
Nelson CP, Goel A, Butterworth AS, ..., Watkins H, Deloukas P
Nat Genet 49 (9) 1385-1391 [2017-07-17; online 2017-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition.
Larsson C, Ali MA, Pandzic T, ..., He L, Sjöblom T
pii: 10.1186/s12885-017-3472-5 pmc: PMC5513093
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transancestral mapping and genetic load in systemic lupus erythematosus.
Langefeld CD, Ainsworth HC, Cunninghame Graham DS, ..., Gaffney PM, Vyse TJ
pii: ncomms16021 pmc: PMC5520018
Nat Commun 8 (-) 16021 [2017-07-17; online 2017-07-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype–covariate interaction effects and the heritability of adult body mass index
Robinson MR, English G, Moser G, ..., Cesarini D, Visscher PM
Nat Genet 49 (8) 1174-1181 [2017-07-10; online 2017-07-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics of phenotypic plasticity and biomass traits in hybrid willows across contrasting environments and years
Berlin S, Hallingbäck HR, Beyer F, ..., Weih M, Rönnberg-Wästljung AC
- 120 (1) 87-100 [2017-07-01; online 2017-04-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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, Gasser J, ..., Gloyn AL, Lindgren CM
pii: db16-1329 pmc: PMC5482074 mid: EMS72347
Diabetes 66 (7) 2019-2032 [2017-07-00; online 2017-03-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
Young E, Noerenberg D, Mansouri L, ..., Rosenquist R, Damm F
Leukemia 31 (7) 1547-1554 [2017-07-00; online 2017-01-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study
Zewinger S, Kleber ME, Tragante V, ..., März W, Speer T
The Lancet Diabetes & Endocrinology 5 (7) 534-543 [2017-07-00; online 2017-07-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Blood transcriptomes and de novo identification of candidate loci for mating success in lekking great snipe (Gallinago media)
Höglund J, Wang B, Saether SA, ..., Kålås JA, Ekblom R
Mol Ecol 26 (13) 3458-3471 [2017-07-00; online 2017-04-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomewide analysis of admixture and adaptation in the Africanized honeybee.
Nelson RM, Wallberg A, Simões ZLP, Lawson DJ, Webster MT
BioProject: PRJNA236426 BioProject: PRJNA350769
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate
Feng C, Pettersson M, Lamichhaney S, ..., Folkvord A, Andersson L
BioProject: PRJNA356817
Elife 6 (-) - [2017-06-30; online 2017-06-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons
Li H, Reksten TR, Ice JA, ..., Sivils KL, None
PLoS Genet. 13 (6) e1006820 [2017-06-22; online 2017-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions
Shungin D, Deng WQ, Varga TV, ..., Franks PW, None
PLoS Genet. 13 (6) e1006812 [2017-06-14; online 2017-06-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
Nolte IM, Munoz ML, Tragante V, ..., Snieder H, de Geus EJC
pii: ncomms15805 pmc: PMC5474732
Nat Commun 8 (-) 15805 [2017-06-14; online 2017-06-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Functional and Compositional Stability of Bacterial Metacommunities in Response to Salinity Changes
Berga M, Zha Y, Székely AJ, Langenheder S
Front Microbiol 8 (-) - [2017-06-08; online 2017-06-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fast and general tests of genetic interaction for genome-wide association studies
Frånberg M, Strawbridge RJ, Hamsten A, ..., Sennblad B, None
PLoS Comput. Biol. 13 (6) e1005556 [2017-06-06; online 2017-06-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methylation of HPA axis related genes in men with hypersexual disorder
Jokinen J, Boström AE, Chatzittofis A, ..., Arver S, Schiöth HB
Psychoneuroendocrinology 80 (-) 67-73 [2017-06-00; online 2017-06-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methylation of HPA axis related genes in men with hypersexual disorder.
Jokinen J, Boström AE, Chatzittofis A, ..., Arver S, Schiöth HB
pii: S0306-4530(16)31025-3
Psychoneuroendocrinology 80 (-) 67-73 [2017-06-00; online 2017-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A DNA methylation site within the KLF13 gene is associated with orexigenic processes based on neural responses and ghrelin levels.
Wiemerslage L, Islam R, van der Kamp C, ..., Benedict C, Schiöth HB
pii: ijo201743
Int J Obes (Lond) 41 (6) 990-994 [2017-06-00; online 2017-02-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
No evidence for MHC class II-based non-random mating at the gametic haplotype in Atlantic salmon
Promerová M, Alavioon G, Tusso S, Burri R, Immler S
Heredity 118 (6) 563-567 [2017-06-00; online 2017-01-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene flow, ancient polymorphism, and ecological adaptation shape the genomic landscape of divergence among Darwin's finches
Han F, Lamichhaney S, Grant BR, ..., Andersson L, Webster MT
Genome Res. 27 (6) 1004-1015 [2017-06-00; online 2017-04-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression
Hauberg ME, Zhang W, Giambartolomei C, ..., Domenici E, Devlin B
The American Journal of Human Genetics 100 (6) 885-894 [2017-06-00; online 2017-06-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Contribution of different bacterial dispersal sources to lakes: Population and community effects in different seasons
Comte J, Berga M, Severin I, Logue JB, Lindström ES
Environ Microbiol 19 (6) 2391-2404 [2017-06-00; online 2017-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic susceptibility to cardiovascular disease and risk of dementia
Karlsson IK, Ploner A, Song C, ..., Pedersen NL, Hägg S
Transl Psychiatry 7 (5) e1142 [2017-05-30; online 2017-05-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence
Sniekers S, Stringer S, Watanabe K, ..., van Duijn CM, Posthuma D
Nat Genet 49 (7) 1107-1112 [2017-05-22; online 2017-05-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
pii: PGENETICS-D-17-00165 pmc: PMC5444601 BioProject: PRJNA357367 Dryad: https://doi.org/10.5061/dryad.jn630
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bayesian Inference of Allele-Specific Gene Expression Indicates Abundant Cis-Regulatory Variation in Natural Flycatcher Populations
Wang M, Uebbing S, Ellegren H
Genome Biol Evol 9 (5) 1266-1279 [2017-05-00; online 2017-05-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications.
Weissensteiner MH, Pang AWC, Bunikis I, ..., Suh A, Wolf JBW
pii: gr.215095.116 pmc: PMC5411765
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] National Genomics Infrastructure [Service]
DOI Crossref
QTL mapping of stress related gene expression in a cross between domesticated chickens and ancestral red junglefowl
Fallahsharoudi A, de Kock N, Johnsson M, ..., Wright D, Jensen P
Molecular and Cellular Endocrinology 446 (-) 52-58 [2017-05-00; online 2017-05-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
Forsberg LA
Hum Genet 136 (5) 657-663 [2017-05-00; online 2017-04-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Does the sex of one's co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts.
Bogl LH, Jelenkovic A, Vuoksimaa E, ..., Silventoinen K, Kaprio J
pii: 134 pmc: PMC5408365
Biol Sex Differ 8 (-) 14 [2017-04-27; online 2017-04-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
Justice AE, Winkler TW, Feitosa MF, ..., North KE, Cupples LA
Nat Commun 8 (-) 14977 [2017-04-26; online 2017-04-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Parallel adaptive evolution of geographically distant herring populations on both sides of the North Atlantic Ocean
Lamichhaney S, Fuentes-Pardo AP, Rafati N, ..., Ruzzante DE, Andersson L
BioProject: PRJNA338612
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Day FR, Thompson DJ, Helgason H, ..., Ong KK, Perry JRB
Nat Genet 49 (6) 834-841 [2017-04-24; online 2017-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
Tesi B, Davidsson J, Voss M, ..., Cammenga J, Bryceson YT
Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]
Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation
Christophersen IE, Rienstra M, Roselli C, ..., Lubitz SA, Ellinor PT
Nat Genet 49 (6) 946-952 [2017-04-17; online 2017-04-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Adaptation to infectious disease exposure in indigenous Southern African populations
Owers KA, Sjödin P, Schlebusch CM, ..., Soodyall H, Jakobsson M
Proc. R. Soc. B 284 (1852) 20170226 [2017-04-12; online 2017-04-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function
Wild PS, Felix JF, Schillert A, ..., Vasan RS, Dörr M
J Clin Invest. 127 (5) 1798-1812 [2017-04-10; online 2017-04-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing
Raine A, Manlig E, Wahlberg P, Syvänen AC, Nordlund J
Nucleic Acids Res 45 (6) e36-e36 [2017-04-07; online 2016-11-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies.
Ek WE, Ahsan M, Rask-Andersen M, ..., Gyllensten U, Johansson Å
Epigenomics 9 (4) 407-418 [2017-04-00; online 2017-03-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
Folkersen L, Fauman E, Sabater-Lleal M, ..., Hamsten A, Mälarstig A
pii: PGENETICS-D-16-01965 pmc: PMC5393901
PLoS Genet. 13 (4) e1006706 [2017-04-00; online 2017-04-03]
Bioinformatics Compute and Storage [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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, Ofori JK, ..., 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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
Pan G, Ameur A, Enroth S, ..., Gyllensten U, Wadelius C
pii: gkw1186 pmc: PMC5389558
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] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Microbial community assembly and evolution in subseafloor sediment
Starnawski P, Bataillon T, Ettema TJG, ..., Schramm A, Kjeldsen KU
BioProject: PRJNA308429 BioProject: PRJNA305566 img.jgi.doe.gov: https://img.jgi.doe.gov/cgi-bin/m/main.cgi?section=TaxonDetail&page=taxonDetail&taxon_oid=2615840655
Proc Natl Acad Sci USA 114 (11) 2940-2945 [2017-03-14; online 2017-02-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.
Sarkisyan D, Bazov I, Watanabe H, ..., Yakovleva T, Bakalkin G
pii: 10.1007/s00401-017-1675-0
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] National Genomics Infrastructure [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, Alten J, ..., 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] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A genetic risk score is significantly associated with statin therapy response in the elderly population.
Ciuculete DM, Bandstein M, Benedict C, ..., Schiöth HB, Mwinyi J
Clin. Genet. 91 (3) 379-385 [2017-03-00; online 2016-12-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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
BioProject: PRJEB7359 BioProject: PRJEB11502
Genetics 205 (3) 1319-1334 [2017-03-00; online 2017-01-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Covariation in levels of nucleotide diversity in homologous regions of the avian genome long after completion of lineage sorting
Dutoit L, Vijay N, Mugal CF, ..., Wolf J, Ellegren H
Proc. R. Soc. B 284 (1849) 20162756 [2017-02-22; online 2017-02-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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, Buttenschøn HN, ..., Breen G, Lewis CM
pii: S0006-3223(16)32386-1 pmc: PMC5262436
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Distinct Anaerobic Bacterial Consumers of Cellobiose-Derived Carbon in Boreal Fens with Different CO2/CH4 Production Ratios
Juottonen H, Eiler A, Biasi C, ..., Yrjälä K, Fritze H
SRA: SRP075161
Appl. Environ. Microbiol. 83 (4) e02533-16 [2017-02-15; online 2016-12-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detection of Somatic Mutations in Gastroenteropancreatic Neuroendocrine Tumors Using Targeted Deep Sequencing
BACKMAN S, NORLÉN O, ERIKSSON B, ..., STÅLBERG P, CRONA J
AR 37 (2) 705-712 [2017-02-10; online 2017-02-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rare and low-frequency coding variants alter human adult height.
Marouli E, Graff M, Medina-Gomez C, ..., Deloukas P, Lettre G
pii: nature21039 pmc: PMC5302847 mid: NIHMS834200
Nature 542 (7640) 186-190 [2017-02-09; online 2017-02-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Posttranscriptional Regulation in Adenovirus Infected Cells
Zhao H, Konzer A, Mi J, ..., Pettersson U, Lind SB
J. Proteome Res. 16 (2) 872-888 [2017-02-03; online 2016-12-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.
Gianfrancesco MA, Glymour MM, Walter S, ..., Alfredsson L, Barcellos LF
pii: kww120 pmc: PMC5391720
Am. J. Epidemiol. 185 (3) 162-171 [2017-02-01; online 2017-01-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, Jall S, ..., Müller TD, Hebebrand J
pii: mp201671 pmc: PMC5114162 mid: NIHMS798415
Mol. Psychiatry 22 (2) 192-201 [2017-02-00; online 2016-05-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells.
Ullmark T, Järvstråt L, Sandén C, ..., Nilsson B, Gullberg U
pii: haematol.2016.149815 pmc: PMC5286941
Haematologica 102 (2) 336-345 [2017-02-00; online 2016-09-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population.
Bonfiglio F, Hysi PG, Ek W, ..., Schmidt PT, D'Amato M
Neurogastroenterol. Motil. 29 (2) - [2017-02-00; online 2016-08-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Novel seminal fluid proteins in the seed beetleCallosobruchus maculatusidentified by a proteomic and transcriptomic approach
Bayram H, Sayadi A, Goenaga J, Immonen E, Arnqvist G
Insect Mol Biol 26 (1) 58-73 [2017-02-00; online 2016-10-24]
Bioinformatics Compute and Storage [Service] Mass Spectrometry-based Proteomics, Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and Targeted eQTL Mapping Reveals Strong Candidate Genes Modulating the Stress Response During Chicken Domestication
Fallahsharoudi A, de Kock N, Johnsson M, ..., Wright D, Jensen P
G3 (Bethesda) 7 (2) 497-504 [2017-02-00; online 2016-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Schmidt AF, Swerdlow DI, Holmes MV, ..., UCLEB consortium , Sattar N
pii: S2213-8587(16)30396-5 pmc: PMC5266795
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] National Genomics Infrastructure [Service]
DOI Crossref
Genomic analysis reveals major determinants ofcis-regulatory variation inCapsella grandiflora
Steige KA, Laenen B, Reimegård J, Scofield DG, Slotte T
BioProject: PRJEB12070 BioProject: PRJEB12072
Proc Natl Acad Sci USA 114 (5) 1087-1092 [2017-01-31; online 2017-01-17]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, Tromp G, Kuivaniemi H, ..., Samani NJ, Bown MJ
pii: CIRCRESAHA.116.308765 pmc: PMC5253231 mid: EMS70602
Circ. Res. 120 (2) 341-353 [2017-01-20; online 2016-12-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic loci associated with hippocampal volume.
Hibar DP, Adams HH, Jahanshad N, ..., Thompson PM, Ikram MA
pii: ncomms13624 pmc: PMC5253632
Nat Commun 8 (-) 13624 [2017-01-18; online 2017-01-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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, Voisin S, ..., Mwinyi J, Schiöth HB
pii: tp2016275 pmc: PMC5545735
Transl Psychiatry 7 (1) e1002 [2017-01-17; online 2017-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Asgard archaea illuminate the origin of eukaryotic cellular complexity
Zaremba-Niedzwiedzka K, Caceres EF, Saw JH, ..., Spang A, Ettema TJG
BioProject: PRJNA319486 GENBANK: MDVT00000000 GENBANK: MEHG00000000 BioProject: PRJNA288027 GENBANK: MBAA00000000 BioProject: PRJNA270657 GENBANK: LRSK00000000 GENBANK: LRSL00000000 GENBANK: MEHH00000000 GENBANK: MDVS00000000 GENBANK: MDVR00000000
Nature 541 (7637) 353-358 [2017-01-11; online 2017-01-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus
Odhams CA, Cortini A, Chen L, ..., Vyse TJ, Cunninghame Graham DS
Hum. Mol. Genet. - (-) ddw417 [2017-01-05; online 2017-01-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Imputation-Based Fine-Mapping Suggests That Most QTL in an Outbred Chicken Advanced Intercross Body Weight Line Are Due to Multiple, Linked Loci.
Brandt M, Ahsan M, Honaker CF, Siegel PB, Carlborg Ö
pii: g3.116.036012 pmc: PMC5217102
G3 (Bethesda) 7 (1) 119-128 [2017-01-05; online 2017-01-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels
Sennblad B, Basu S, Mazur J, ..., Trégouët DA, Sabater-Lleal M
Hum. Mol. Genet. - (-) ddw401 [2017-01-04; online 2017-01-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic changes as prognostic predictors in endometrial carcinomas.
Farkas SA, Sorbe BG, Nilsson TK
pmc: PMC5270631
Epigenetics 12 (1) 19-26 [2017-01-02; online 2016-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Emerging microbiota during cold storage and temperature abuse of ready-to-eat salad​
Söderqvist K, Ahmed Osman O, Wolff C, ..., Vågsholm I, Boqvist S
Infect Ecol Epidemiol 7 (1) 1328963 [2017-01-00; online 2017-06-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
Márquez A, Vidal-Bralo L, Rodríguez-Rodríguez L, ..., Alarcón-Riquelme ME, Martín J
pii: annrheumdis-2016-209436
Ann. Rheum. Dis. 76 (1) 286-294 [2017-01-00; online 2016-05-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach.
Mendelson MM, Marioni RE, Joehanes R, ..., Levy D, Deary IJ
pii: PMEDICINE-D-16-00194 pmc: PMC5240936
PLoS Med. 14 (1) e1002215 [2017-01-00; online 2017-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
Chu AY, Deng X, Fisher VA, ..., Steinhauser ML, Fox CS
pii: ng.3738
Nat. Genet. 49 (1) 125-130 [2017-01-00; online 2016-12-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.
Hedman ÅK, Mendelson MM, Marioni RE, ..., Levy D, Ingelsson E
pii: CIRCGENETICS.116.001487 pmc: PMC5331877 mid: EMS71180
Circ Cardiovasc Genet 10 (1) - [2017-01-00; online 2017-02-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample.
Lind L, Ng E, Ingelsson E, ..., Morris AP, Lind PM
pii: S0160-4120(16)30761-9 pmc: PMC5152752
Environ Int 98 (-) 212-218 [2017-01-00; online 2016-11-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Investigating kinship of Neolithic post-LBK human remains from Krusza Zamkowa, Poland using ancient DNA.
Juras A, Chyleński M, Krenz-Niedbała M, ..., Jakobsson M, Dabert M
pii: S1872-4973(16)30193-4 GENBANK: KX450777 GENBANK: KX450778 GENBANK: KX450779 GENBANK: KX450780
Forensic Sci Int Genet 26 (-) 30-39 [2017-01-00; online 2016-10-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-GWAS Accuracy and Power (MetaGAP) Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.
de Vlaming R, Okbay A, Rietveld CA, ..., Thurik AR, Koellinger PD
pii: PGENETICS-D-16-00815 pmc: PMC5240919
PLoS Genet. 13 (1) e1006495 [2017-01-00; online 2017-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Contribution of different dispersal sources to the metabolic response of lake bacterioplankton following a salinity change.
Comte J, Langenheder S, Berga M, Lindström ES
SRA: SRP060458
Environ. Microbiol. 19 (1) 251-260 [2017-01-00; online 2016-11-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
VAV1 regulates experimental autoimmune arthritis and is associated with anti-CCP negative rheumatoid arthritis
Guerreiro-Cacais AO, None , Norin U, ..., Kockum I, Padyukov L
Genes Immun 18 (1) 48-56 [2017-01-00; online 2017-01-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
124 CHANGES IN GENE EXPRESSION FOLLOWING EXPOSURE OF BOVINE ENDOMETRIAL EPITHELIAL CELLS (bEEC) TO ESCHERICHIA COLI LPS; THEIR POSSIBLE EFFECT ON IMPLANTATION
Guo Y, Jahmat N, Van Shaik T, ..., Andersson G, Humblot P
Reprod. Fertil. Dev. 29 (1) 170 [2017-00-00; online 2017-00-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref
Single-Nucleotide Polymorphisms and Cancer Risk, Tumor Recurrence, or Survival of Head and Neck Cancer Patients.
Laytragoon-Lewin N, Cederblad L, Andersson BÅ, ..., Löfgren S, Lewin F
pii: 000452278
Oncology 92 (3) 161-169 [2016-12-21; online 2016-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Identification of a Differentially Expressed TIR-NBS-LRR Gene in a Major QTL Associated to Leaf Rust Resistance in Salix
Martin T, Rönnberg-Wästljung AC, Stenlid J, Samils B
PLoS ONE 11 (12) e0168776 [2016-12-21; online 2016-12-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior.
Cornelis MC, Kacprowski T, Menni C, ..., Grabe HJ, Ingelsson E
pii: ddw334
Hum. Mol. Genet. 25 (24) 5472-5482 [2016-12-15; online 2016-10-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia.
Pandzic T, Larsson J, He L, ..., Sjöblom T, Hellström M
pii: 1078-0432.CCR-15-2903
Clin. Cancer Res. 22 (24) 6217-6227 [2016-12-15; online 2016-03-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M.
Henström M, Hadizadeh F, Beyder A, ..., Farrugia G, D'Amato M
pii: gutjnl-2016-313346
Gut - (-) - [2016-12-14; online 2016-12-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clonal Variation in Drug and Radiation Response among Glioma-Initiating Cells Is Linked to Proneural-Mesenchymal Transition.
Segerman A, Niklasson M, Haglund C, ..., Segerman B, Westermark B
pii: S2211-1247(16)31629-1
Cell Rep 17 (11) 2994-3009 [2016-12-13; online 2016-12-16]
Drug Discovery and Development (DDD) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genetic risk score composed of rheumatoid arthritis risk alleles, HLA-DRB1 haplotypes, and response to TNFi therapy - results from a Swedish cohort study.
Jiang X, Askling J, Saevarsdottir S, ..., Viatte S, Frisell T
pii: 10.1186/s13075-016-1174-z pmc: PMC5135751
Arthritis Res. Ther. 18 (1) 288 [2016-12-03; online 2016-12-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Viral Metagenomic Analysis Displays the Co-Infection Situation in Healthy and PMWS Affected Pigs.
Blomström AL, Fossum C, Wallgren P, Berg M
pii: PONE-D-16-07974 pmc: PMC5131951
PLoS ONE 11 (12) e0166863 [2016-12-01; online 2016-12-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.
Eriksson D, Bianchi M, Landegren N, ..., Kämpe O, Pielberg GR
J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
The domesticated brain: genetics of brain mass and brain structure in an avian species
Henriksen R, Johnsson M, Andersson L, Jensen P, Wright D
Sci Rep 6 (1) - [2016-12-00; online 2016-09-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N, Jansen R, de Vlaming R, ..., Snieder H, Mills MC
pii: ng.3698
Nat. Genet. 48 (12) 1462-1472 [2016-12-00; online 2016-11-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The disappearing San of southeastern Africa and their genetic affinities.
Schlebusch CM, Prins F, Lombard M, Jakobsson M, Soodyall H
pii: 10.1007/s00439-016-1729-8 pmc: PMC5065584
Hum. Genet. 135 (12) 1365-1373 [2016-12-00; online 2016-09-22]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams HH, Hibar DP, Chouraki V, ..., Ikram MA, Thompson PM
pii: nn.4398 pmc: PMC5227112 mid: NIHMS822505
Nat. Neurosci. 19 (12) 1569-1582 [2016-12-00; online 2016-11-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Coetzeea brasiliensis gen. nov., sp. nov. isolated from larvae of Anopheles darlingi.
Kämpfer P, Glaeser SP, Marinotti O, ..., Busse HJ, Terenius O
Int. J. Syst. Evol. Microbiol. 66 (12) 5211-5217 [2016-12-00; online 2016-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation patterns associated with oxidative stress in an ageing population.
Hedman ÅK, Zilmer M, Sundström J, Lind L, Ingelsson E
pii: 10.1186/s12920-016-0235-0 pmc: PMC5123374
BMC Med Genomics 9 (1) 72 [2016-11-25; online 2016-11-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M, Diekmann L, Bonfiglio F, ..., Naim HY, D'Amato M
pii: gutjnl-2016-312456
Gut - (-) - [2016-11-21; online 2016-11-21]
Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall CR, Howrigan DP, Merico D, ..., Neale BM, Sebat J
Nat Genet 49 (1) 27-35 [2016-11-21; online 2016-11-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.
Varga TV, Kurbasic A, Aine M, ..., Renström F, Franks PW
pii: dyw245
Int J Epidemiol - (-) - [2016-11-17; online 2016-11-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
Matsson H, Söderhäll C, Einarsdottir E, ..., Lundbäck B, Klar J
pii: 10.1186/s12890-016-0309-y pmc: PMC5106844
BMC Pulm Med 16 (1) 146 [2016-11-11; online 2016-11-11]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Iotchkova V, Huang J, Morris JA, ..., Auer PL, Soranzo N
pii: ng.3668 pmc: PMC5279872 mid: EMS71079
Nat. Genet. 48 (11) 1303-1312 [2016-11-00; online 2016-10-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Bronson PG, Chang D, Bhangale T, ..., Graham RR, Behrens TW
pmc: PMC5086090 pii: ng.3675 mid: EMS69791
Nat. Genet. 48 (11) 1425-1429 [2016-11-00; online 2016-10-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes.
Imgenberg-Kreuz J, Sandling JK, Almlöf JC, ..., Syvänen AC, Nordmark G
pii: annrheumdis-2015-208659 pmc: PMC5099203
Ann. Rheum. Dis. 75 (11) 2029-2036 [2016-11-00; online 2016-02-10]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia.
Teppo S, Laukkanen S, Liuksiala T, ..., Heinäniemi M, Lohi O
pii: gr.193649.115 pmc: PMC5088590
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] National Genomics Infrastructure [Collaborative]
DOI Crossref
Evolution of heterogeneous genome differentiation across multiple contact zones in a crow species complex
Vijay N, Bossu CM, Poelstra JW, ..., Kryukov AP, Wolf JBW
Nat Commun 7 (-) 13195 [2016-10-31; online 2016-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Introduction and persistence of tularemia in Bulgaria.
Myrtennäs K, Marinov K, Johansson A, ..., Byström M, Forsman M
pii: 32838 pmc: PMC5084392
Infect Ecol Epidemiol 6 (-) 32838 [2016-10-26; online 2016-10-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor.
Dahlin AM, Wibom C, Ghasimi S, ..., Andersson U, Melin B
pii: PONE-D-16-15846 pmc: PMC5079592
PLoS ONE 11 (10) e0163067 [2016-10-25; online 2016-10-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
Loley C, Alver M, Assimes TL, ..., Erdmann J, König IR
pii: srep35278 pmc: PMC5059659
Sci Rep 6 (-) 35278 [2016-10-12; online 2016-10-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of the brain mural cell transcriptome.
He L, Vanlandewijck M, Raschperger E, ..., Keller A, Betsholtz C
pii: srep35108 pmc: PMC5057134
Sci Rep 6 (-) 35108 [2016-10-11; online 2016-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Demographic Development of the First Farmers in Anatolia.
Kılınç GM, Omrak A, Özer F, ..., Jakobsson M, Götherström A
pii: S0960-9822(16)30850-8 pmc: PMC5069350
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Picodroplet partitioned whole genome amplification of low biomass samples preserves genomic diversity for metagenomic analysis.
Hammond M, Homa F, Andersson-Svahn H, Ettema TJ, Joensson HN
pii: 10.1186/s40168-016-0197-7 pmc: PMC5054601
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.
Jiao H, Kulyté A, Näslund E, ..., Arner P, Dahlman I
pii: db16-0522
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Surendran P, Drenos F, Young R, ..., Howson JM, Munroe PB
pmc: PMC5056636 pii: ng.3654 mid: EMS69533
Nat. Genet. 48 (10) 1151-1161 [2016-10-00; online 2016-09-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.
Wahlberg P, Lundmark A, Nordlund J, ..., Lönnerholm G, Syvänen AC
Epigenomics 8 (10) 1367-1387 [2016-10-00; online 2016-08-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Connectivity to the surface determines diversity patterns in subsurface aquifers of the Fennoscandian shield.
Hubalek V, Wu X, Eiler A, ..., Bertilsson S, Ionescu D
pii: ismej201636 pmc: PMC5030689
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study.
Nowak C, Salihovic S, Ganna A, ..., Ingelsson E, Fall T
pii: PGENETICS-D-16-00940 pmc: PMC5074591
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polygenic associations of neurodevelopmental genes in suicide attempt.
Sokolowski M, Wasserman J, Wasserman D
pii: mp2015187
Mol. Psychiatry 21 (10) 1381-1390 [2016-10-00; online 2015-12-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret GB, Ferreira T, Chasman DI, ..., Newton-Cheh C, Munroe PB
pii: ng.3667 pmc: PMC5042863 mid: NIHMS810971
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] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Clonality of erythromycin resistance in Francisella tularensis.
Karlsson E, Golovliov I, Lärkeryd A, ..., Forsman M, Johansson A
pii: dkw235
J. Antimicrob. Chemother. 71 (10) 2815-2823 [2016-10-00; online 2016-06-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness.
Strawbridge RJ, Hilding A, Silveira A, ..., Bäcklund A, IMPROVE Study Group
pii: 65/10/2888 pmc: PMC5033267
Diabetes 65 (10) 2888-2899 [2016-10-00; online 2016-09-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Personality Polygenes, Positive Affect, and Life Satisfaction.
Weiss A, Baselmans BM, Hofer E, ..., Bartels M, Luciano M
pii: S1832427416000657 pmc: PMC5125297 mid: NIHMS829602
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J, Zhao JJ, Zaghlool A, ..., Thuresson AC, Feuk L
pii: jmedgenet-2016-103814 pmc: PMC5099177
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.
Fall T, Salihovic S, Brandmaier S, ..., Ingelsson E, Lind L
pii: 10.1007/s00125-016-4041-1
Diabetologia 59 (10) 2114-2124 [2016-10-00; online 2016-07-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effects of multiple dimensions of bacterial diversity on functioning, stability and multifunctionality.
Roger F, Bertilsson S, Langenheder S, Osman OA, Gamfeldt L
Ecology 97 (10) 2716-2728 [2016-10-00; online 2016-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Walford GA, Gustafsson S, Rybin D, ..., Ingelsson E, Florez JC
pii: db16-0199 pmc: PMC5033262
Diabetes 65 (10) 3200-3211 [2016-10-00; online 2016-07-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic Regions Associated With Interspecies Communication in Dogs Contain Genes Related to Human Social Disorders.
Persson ME, Wright D, Roth LS, Batakis P, Jensen P
pmc: PMC5041581 pii: srep33439
Sci Rep 6 (-) 33439 [2016-09-29; online 2016-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Lindqvist CM, Lundmark A, Nordlund J, ..., Berglund EC, Syvänen AC
pii: 11773 pmc: PMC5325426
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] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genomic distribution and estimation of nucleotide diversity in natural populations: perspectives from the collared flycatcher (Ficedula albicollis) genome.
Dutoit L, Burri R, Nater A, Mugal CF, Ellegren H
GENBANK: GCA_000247815
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion.
Einarsdottir E, Hafrén L, Leinonen E, ..., Kere J, Mattila PS
pii: srep33240 pmc: PMC5025747
Sci Rep 6 (-) 33240 [2016-09-16; online 2016-09-16]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction
Rask-Andersen M, Martinsson D, Ahsan M, ..., Gyllensten U, Johansson Å
Hum. Mol. Genet. - (-) ddw302 [2016-09-15; online 2016-09-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Morin A, Kwan T, Ge B, ..., Lathrop MG, Pastinen T
pii: 10.1186/s12920-016-0220-7 pmc: PMC5022205
BMC Med Genomics 9 (1) 59 [2016-09-13; online 2016-09-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Ferreira PG, Oti M, Barann M, ..., Guigó R, Sammeth M
pii: srep32406 pmc: PMC5019111
Sci Rep 6 (-) 32406 [2016-09-12; online 2016-09-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.
Mahajan A, Rodan AR, Le TH, ..., Morris AP, Franceschini N
pii: S0002-9297(16)30286-5 pmc: PMC5011075
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Direct estimate of the rate of germline mutation in a bird.
Smeds L, Qvarnström A, Ellegren H
pii: gr.204669.116 pmc: PMC5052036
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genetic variant in proximity to the gene LYPLAL1 is associated with lower hunger feelings and increased weight loss following Roux-en-Y gastric bypass surgery.
Bandstein M, Mwinyi J, Ernst B, ..., Schultes B, Schiöth HB
pmc: PMC4926774
Scand. J. Gastroenterol. 51 (9) 1050-1055 [2016-09-00; online 2016-05-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide analysis of DNA methylation reveals a rectal cancer-specific epigenomic signature.
Vymetalkova V, Vodicka P, Pardini B, ..., Nilsson TK, Farkas SA
Epigenomics 8 (9) 1193-1207 [2016-09-00; online 2016-08-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Data on the expression of cellular lncRNAs in human adenovirus infected cells.
Chen M, Zhao H, Lind SB, Pettersson U
pii: S2352-3409(16)30421-8 pmc: PMC4983107
Data Brief 8 (-) 1263-1279 [2016-09-00; online 2016-08-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Genetic Risk Score Is Associated with Weight Loss Following Roux-en Y Gastric Bypass Surgery.
Bandstein M, Voisin S, Nilsson EK, ..., Mwinyi J, Schiöth HB
pii: 10.1007/s11695-016-2072-9 pmc: PMC4985537
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Rickettsiales symbiont of amoebae with ancient features.
Schulz F, Martijn J, Wascher F, ..., Ettema TJ, Horn M
Environ. Microbiol. 18 (8) 2326-2342 [2016-09-00; online 2015-04-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study.
van der Laan SW, Fall T, Soumaré A, ..., Holmes MV, Asselbergs FW
pii: S0735-1097(16)34438-2
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
pii: 10.1186/s12944-016-0309-1 pmc: PMC5000434
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of Multiple QTLs Linked to Neuropathology in the Engrailed-1 Heterozygous Mouse Model of Parkinson's Disease.
Kurowska Z, Jewett M, Brattås PL, ..., Brundin P, Swanberg M
pii: srep31701 pmc: PMC4994027
Sci Rep 6 (-) 31701 [2016-08-23; online 2016-08-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.
Franzén O, Ermel R, Cohain A, ..., Schadt EE, Björkegren JL
pii: 353/6301/827
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single base resolution analysis of 5-hydroxymethylcytosine in 188 human genes: implications for hepatic gene expression.
Ivanov M, Kals M, Lauschke V, ..., Milani L, Ingelman-Sundberg M
pii: gkw316 pmc: PMC5001587
Nucleic Acids Res. 44 (14) 6756-6769 [2016-08-19; online 2016-04-29]
Bioinformatics Compute and Storage [Service] Clinical Proteomics Mass spectrometry [Collaborative] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, ..., Altshuler D, McCarthy MI
pii: nature18642 pmc: PMC5034897 mid: NIHMS795012 mid: EMS68809
Nature 536 (7614) 41-47 [2016-08-04; online 2016-07-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Rapid and specific hypomethylation of enhancers in endothelial cells during adaptation to cell culturing.
Magnusson M, Larsson P, Lu EX, ..., Carén H, Jern S
pmc: PMC4990226
Epigenetics 11 (8) 614-624 [2016-08-02; online 2016-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
ω-3 Polyunsaturated Fatty Acid Biomarkers and Coronary Heart Disease: Pooling Project of 19 Cohort Studies.
Del Gobbo LC, Imamura F, Aslibekyan S, ..., Mozaffarian D, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Fatty Acids and Outcomes Research Consortium (FORCe)
pii: 2530286 pmc: PMC5183535 mid: NIHMS833377
JAMA Intern Med 176 (8) 1155-1166 [2016-08-01; online 2016-07-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
On the reversibility of parasitism: adaptation to a free-living lifestyle via gene acquisitions in the diplomonad Trepomonas sp. PC1.
Xu F, Jerlström-Hultqvist J, Kolisko M, ..., Svärd SG, Andersson JO
pii: 10.1186/s12915-016-0284-z pmc: PMC4967989
BMC Biol. 14 (-) 62 [2016-08-01; online 2016-08-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
Morris DL, Sheng Y, Zhang Y, ..., Cui Y, Vyse TJ
pii: ng.3603 pmc: PMC4966635 mid: EMS69407
Nat. Genet. 48 (8) 940-946 [2016-08-00; online 2016-07-12]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I, Alvarez-Mora MI, Rosell J, ..., Syvänen AC, Mila M
pii: ejhg2015267 pmc: PMC4970682
Eur. J. Hum. Genet. 24 (8) 1117-1123 [2016-08-00; online 2016-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.
Eriksson N, Wallentin L, Berglund L, ..., Yusuf S, Wadelius M
Pharmacogenomics 17 (13) 1425-1439 [2016-08-00; online 2016-08-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Postprandial alterations in whole-blood DNA methylation are mediated by changes in white blood cell composition.
Rask-Andersen M, Bringeland N, Nilsson EK, ..., Benedict C, Schiöth HB
pii: ajcn.115.122366
Am. J. Clin. Nutr. 104 (2) 518-525 [2016-08-00; online 2016-07-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose.
Cavalli M, Pan G, Nord H, ..., Wadelius C, Wadelius M
Pharmacogenomics 17 (12) 1305-1314 [2016-08-00; online 2016-02-06]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Gormley P, Anttila V, Winsvold BS, ..., Nyholt DR, Palotie A
pii: ng.3598 pmc: PMC5331903 mid: NIHMS845323
Nat. Genet. 48 (8) 856-866 [2016-08-00; online 2016-06-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) study.
Silventoinen K, Jelenkovic A, Sund R, ..., Boomsma DI, Kaprio J
pii: ajcn.116.130252 pmc: PMC4962159
Am. J. Clin. Nutr. 104 (2) 371-379 [2016-08-00; online 2016-07-15]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Remnants of marine bacterial communities can be retrieved from deep sediments in lakes of marine origin.
Langenheder S, Comte J, Zha Y, ..., Eiler A, Lindström ES
Environ Microbiol Rep 8 (4) 479-485 [2016-08-00; online 2016-03-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rapid Evolution of Genomic Imprinting in Two Species of the Brassicaceae.
Hatorangan MR, Laenen B, Steige KA, Slotte T, Köhler C
pii: tpc.16.00304 pmc: PMC5006707
Plant Cell 28 (8) 1815-1827 [2016-08-00; online 2016-07-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The De Novo Transcriptome and Its Functional Annotation in the Seed Beetle Callosobruchus maculatus.
Sayadi A, Immonen E, Bayram H, Arnqvist G
pii: PONE-D-16-06187 pmc: PMC4956038
PLoS ONE 11 (7) e0158565 [2016-07-21; online 2016-07-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.
Miller CL, Pjanic M, Wang T, ..., Björkegren JL, Quertermous T
pii: ncomms12092 pmc: PMC4941121
Nat Commun 7 (-) 12092 [2016-07-08; online 2016-07-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
Rafati N, Andersson LS, Mikko S, ..., Lindgren G, Rubin CJ
pii: g3.116.029645 pmc: PMC4938674
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc.
Jeong C, Ozga AT, Witonsky DB, ..., Di Rienzo A, Warinner C
pii: 1520844113 pmc: PMC4941446
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] National Genomics Infrastructure [Service]
PubMed DOI Crossref