National Genomics Infrastructure

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

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

Started: 2020

Ended: Current

Year 2024

Year 2023

Year 2022

The era of reference genomes in conservation genomics.
Formenti G, Theissinger K, Fernandes C, ..., Bálint M, European Reference Genome Atlas (ERGA) Consortium
Trends Ecol Evol 37 (3) 197-202 [2022-03-00; online 2022-01-24]
NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Year 2021

The trans-ancestral genomic architecture of glycemic traits.
Chen J, Spracklen CN, Marenne G, ..., Barroso I, Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
Nat. Genet. 53 (6) 840-860 [2021-06-00; online 2021-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, ..., UK DNA Lacunar Stroke Study Investigators , International Stroke Genetics Consortium
Lancet Neurol 20 (5) 351-361 [2021-05-00; online 2021-03-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2020

Genetic Associations Between Childhood Psychopathology and Adult Depression and Associated Traits in 42 998 Individuals: A Meta-analysis.
Akingbuwa WA, Hammerschlag AR, Jami ES, ..., Middeldorp CM, Bipolar Disorder and Major Depressive Disorder Working Groups of the Psychiatric Genomics Consortium
JAMA Psychiatry 77 (7) 715-728 [2020-07-01; online 2020-04-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.
Chauhan G, Adams HHH, Satizabal CL, ..., Debette S, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Neurology - (-) - [2019-01-16; online 2019-01-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2018

Year 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Marshall CR, Howrigan DP, Merico D, ..., Sebat J, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Nat. Genet. 49 (1) 27-35 [2017-01-00; online 2016-11-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2016

ω-3 Polyunsaturated Fatty Acid Biomarkers and Coronary Heart Disease: Pooling Project of 19 Cohort Studies.
Del Gobbo LC, Imamura F, Aslibekyan S, ..., Mozaffarian D, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Fatty Acids and Outcomes Research Consortium (FORCe)
JAMA Intern Med 176 (8) 1155-1166 [2016-08-01; online 2016-07-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.
Golbus JR, Stitziel NO, Zhao W, ..., Reilly MP, CARDIoGRAMplusC4D, Myocardial Infarction Genetics (MIGen), Exome Sequencing Project and Early-Onset Myocardial Infarction (ESP EOMI), and the Pakistan Risk of Myocardial Infarction Study (PROMIS) Consortia*
Circ Cardiovasc Genet 9 (3) 250-258 [2016-06-00; online 2016-03-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2015

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ, Ferreira T, Lee Y, ..., Morris AP, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 47 (12) 1415-1425 [2015-12-00; online 2015-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
A New Method for Detecting Associations with Rare Copy-Number Variants.
Tzeng JY, Magnusson PK, Sullivan PF, Swedish Schizophrenia Consortium , Szatkiewicz JP
PLoS Genet. 11 (10) e1005403 [2015-10-00; online 2015-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Genetically determined height and coronary artery disease.
Nelson CP, Hamby SE, Saleheen D, ..., Samani NJ, CARDIoGRAM+C4D Consortium
N. Engl. J. Med. 372 (17) 1608-1618 [2015-04-23; online 2015-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Adiposity as a cause of cardiovascular disease: a Mendelian randomization study.
Hägg S, Fall T, Ploner A, ..., Ingelsson E, European Network for Genetic and Genomic Epidemiology Consortium
Int J Epidemiol 44 (2) 578-586 [2015-04-00; online 2015-05-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, ..., Lindgren CM, Mohlke KL
Nature 518 (7538) 187-196 [2015-02-12; online 2015-02-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis.
van Steenbergen HW, Rodríguez-Rodríguez L, Berglin E, ..., Rantapää-Dahlqvist S, van der Helm-van Mil AH
Arthritis Res. Ther. 17 (-) 1 [2015-01-08; online 2015-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2014

Replicability and robustness of genome-wide-association studies for behavioral traits.
Rietveld CA, Conley D, Eriksson N, ..., Koellinger PD, Social Science Genetics Association Consortium
Psychol Sci 25 (11) 1975-1986 [2014-11-00; online 2014-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.
Kilarski LL, Achterberg S, Devan WJ, ..., Bevan S, GARNET Collaborative Research Group WTCCC2ASGCtMCatISGC
Neurology 83 (8) 678-685 [2014-08-19; online 2014-07-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
Biological insights from 108 schizophrenia-associated genetic loci.
Schizophrenia Working Group of the Psychiatric Genomics Consortium
Nature 511 (7510) 421-427 [2014-07-24; online 2014-07-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Nucleosome regulatory dynamics in response to TGFβ.
Enroth S, Andersson R, Bysani M, ..., Komorowski J, Wadelius C
Nucleic Acids Res. 42 (11) 6921-6934 [2014-06-00; online 2014-04-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
Quality control and conduct of genome-wide association meta-analyses.
Winkler TW, Day FR, Croteau-Chonka DC, ..., Loos RJ, Genetic Investigation of Anthropometric Traits (GIANT) Consortium
Nat Protoc 9 (5) 1192-1212 [2014-05-00; online 2014-04-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.
Lundin C, Forestier E, Klarskov Andersen M, ..., Swedish Cytogenetic Leukemia Study Group (SCLSG) , NOPHO Leukemia Cytogenetic Study Group (NLCSG)
J Hematol Oncol 7 (-) 32 [2014-04-11; online 2014-04-11]
NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium , Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium , South Asian Type 2 Diabetes (SAT2D) Consortium , ..., McCarthy MI, Morris AP
Nat. Genet. 46 (3) 234-244 [2014-03-00; online 2014-02-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2013

Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, ..., Estivill X, Dermitzakis ET
Nature 501 (7468) 506-511 [2013-09-26; online 2013-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Cross-Disorder Group of the Psychiatric Genomics Consortium N, Lee SH, Ripke S, ..., Wray NR, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC) N
Nat. Genet. 45 (9) 984-994 [2013-09-00; online 2013-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.
Fall T, Hägg S, Mägi R, ..., Prokopenko I, European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium N
PLoS Med. 10 (6) e1001474 [2013-06-25; online 2013-06-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
A gene-centric study of common carotid artery remodelling.
Harrison SC, Zabaneh D, Asselbergs FW, ..., Hamsten A, Humphries SE
Atherosclerosis 226 (2) 440-446 [2013-02-00; online 2012-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Morris AP, Voight BF, Teslovich TM, ..., McCarthy MI, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 44 (9) 981-990 [2012-09-00; online 2012-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Unraveling assembly of stream biofilm communities.
Besemer K, Peter H, Logue JB, ..., Tranvik LJ, Battin TJ
ISME J 6 (8) 1459-1468 [2012-08-00; online 2012-01-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium , Swerdlow DI, Holmes MV, ..., Hingorani AD, Casas JP
Lancet 379 (9822) 1214-1224 [2012-03-31; online 2012-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies.
IL6R Genetics Consortium Emerging Risk Factors Collaboration , Sarwar N, Butterworth AS, ..., Harari O, Danesh J
Lancet 379 (9822) 1205-1213 [2012-03-31; online 2012-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2011

The Lin28/let-7 axis regulates glucose metabolism.
Zhu H, Shyh-Chang N, Segrè AV, ..., Altshuler D, Daley GQ
Cell 147 (1) 81-94 [2011-09-30; online 2011-10-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium N, Wellcome Trust Case Control Consortium 2 N, Sawcer S, ..., Donnelly P, Compston A
Nature 476 (7359) 214-219 [2011-08-10; online 2011-08-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
Meta-analysis of the association between variants in SORL1 and Alzheimer disease.
Reitz C, Cheng R, Rogaeva E, ..., Mayeux R, Genetic and Environmental Risk in Alzheimer Disease 1 Consortium
Arch. Neurol. 68 (1) 99-106 [2011-01-00; online 2011-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2010

A variant near the interleukin-6 gene is associated with fat mass in Caucasian men.
Andersson N, Strandberg L, Nilsson S, ..., Jansson JO, Osteoporotic Fractures in Men MrOS Research Group
Int J Obes (Lond) 34 (6) 1011-1019 [2010-06-00; online 2010-02-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Publications 9.5.1