Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

被引：21

作者：

Flannick, Jason ^{[1
,2
]}

Fuchsberger, Christian ^{[3
]}

Mahajan, Anubha ^{[4
]}

Teslovich, Tanya M. ^{[3
]}

Agarwala, Vineeta ^{[2
,5
]}

Gaulton, Kyle J. ^{[4
]}

Caulkins, Lizz ^{[2
]}

Koesterer, Ryan ^{[2
]}

Ma, Clement ^{[3
]}

Moutsianas, Loukas ^{[4
]}

McCarthy, Davis J. ^{[4
,6
]}

Rivas, Manuel A. ^{[4
]}

Perry, John R. B. ^{[4
,7
,8
,9
]}

Sim, Xueling ^{[3
]}

Blackwell, Thomas W. ^{[3
]}

Robertson, Neil R. ^{[4
,10
]}

Rayner, N. William ^{[4
,10
,11
]}

Cingolani, Pablo ^{[12
,13
]}

Locke, Adam E. ^{[3
]}

Tajes, Juan Fernandez ^{[4
]}

Highland, Heather M. ^{[14
]}

Dupuis, Josee ^{[1
,15
,16
]}

Chines, Peter S. ^{[17
]}

Lindgren, Cecilia M. ^{[2
,4
]}

Hartl, Christopher ^{[2
]}

Jackson, Anne U. ^{[3
]}

Chen, Han ^{[15
,18
]}

Huyghe, Jeroen R. ^{[3
]}

De Bunt, Martijn Van ^{[4
,10
]}

Pearson, Richard D. ^{[4
]}

Kumar, Ashish ^{[4
,19
]}

Muller-Nurasyid, Martina ^{[20
,21
,22
,23
]}

Grarup, Niels ^{[24
]}

Stringham, Heather M. ^{[3
]}

Gamazon, Eric R. ^{[25
]}

Lee, Jaehoon ^{[26
]}

Chen, Yuhui ^{[4
]}

Scott, Robert A. ^{[8
]}

Below, Jennifer E. ^{[27
]}

Chen, Peng ^{[28
]}

Huang, Jinyan ^{[29
]}

Go, Min Jin ^{[30
]}

Stitzel, Michael L. ^{[31
]}

Pasko, Dorota ^{[7
]}

Parker, Stephen C. J. ^{[32
,33
]}

Varga, Tibor V. ^{[34
]}

Green, Todd ^{[2
]}

Beer, Nicola L. ^{[10
]}

Day-Williams, Aaron G. ^{[11
]}

Ferreira, Teresa ^{[4
]}

机构：

[1] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA USA

[2] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

[3] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI USA

[4] Univ Oxford, Nuffield Dept Med, Wellcome Trust Ctr Human Genet, Oxford, England

[5] MIT, Harvard Div Hlth Sci & Technol, Cambridge, MA USA

[6] Univ Oxford, Dept Stat, Oxford, England

[7] Univ Exeter, Univ Exeter Med Sch, Genet Complex Traits, Exeter, Devon, England

[8] Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England

[9] Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England

[10] Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[11] Wellcome Trust Sanger Inst, Dept Human Genet, Hinxton, Cambridgeshire, England

[12] McGill Univ, Sch Comp Sci, Montreal, PQ, Canada

[13] McGill Univ, Genome Quebec Innovat Ctr, Montreal, PQ H3A 2T5, Canada

[14] Univ Texas Grad Sch Biomed Sci, Ctr Human Genet, Univ Texas Hlth Sci Ctr, Houston, TX USA

[15] Boston Univ Sch Publ Hlth, Dept Biostatist, Boston, MA USA

[16] Nat Heart Lung & Blood Inst Framingham Heart Stud, Framingham, MA USA

[17] NIH, Natl Human Genome Res Inst, Med Genom & Metab Genet Branch, Bethesda, MD USA

[18] Harvard Sch Publ Hlth, Dept Biostatist, Boston, MA USA

[19] Univ Basel, Swiss Trop & Publ Hlth Inst, Chron Dis Epidemiol, Basel, Switzerland

[20] German Res Ctr Environm Hlth, Inst Genet Epidemiol, Helmholtz Zentrum Munchen, Neuherberg, Germany

[21] Univ Hosp Grosshadern, Ludwig Maximilians Univ, Dept Med I, Munich, Germany

[22] Ludwig Maximilians Univ Munchen, IBE, Chair Genet Epidemiol, Fac Med, Munich, Germany

[23] DZHK German Ctr Cardiovascular Res, Munich Heart Alliance, Munich, Germany

[24] Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark

[25] Univ Chicago, Med Genet Sect, Dept Med, Chicago, IL USA

[26] Seoul Natl Univ, Dept Stat, Seoul, South Korea

[27] Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX USA

[28] Natl Univ Singapore, Natl Univ Hlth Syst, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore

[29] Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[30] Korea Natl Inst Hlth, Ctr Genome Sci, Chungcheongbukdo, South Korea

[31] Jackson Lab Genom Med, Farmington, CT USA

[32] Univ Michigan, Dept Computat Med Bioinformat, Ann Arbor, MI USA

[33] Univ Michigan, Dept Human Genet, Ann Arbor, MI USA

[34] Lund Univ, Lund Univ Diabet Ctr, Dept Clin Sci, Genet & Mol Epidemiol Unit, Malmo, Sweden

[35] Univ Colorado, Colorado Sch Publ Hlth, Dept Epidemiol, Aurora, CO USA

[36] Shanghai Jiao Tong Univ, Shanghai Diabet Inst, Dept Endocrinol & Metab, Sixth Peoples Hosp, Shanghai, Peoples R China

[37] Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore

[38] Natl Univ Singapore, Natl Univ Hlth Syst, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore, Singapore

[39] Eye Acad Clin Programme, Duke NUS Grad Med Sch, Singapore, Singapore

[40] Seoul Natl Univ, Interdisciplinary Program Bioinformat, Seoul, South Korea

[41] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[42] Res Inst McGill Univ Hlth Ctr, Montreal, PQ, Canada

[43] Imperial Coll London, Dept Epidemiol & Biostat, London, England

[44] Ealing Hosp NHS Trust, Dept Cardiol, Southall, Middx, England

[45] Albert Einstein Coll Med, Dept Med, New York, NY USA

[46] Albert Einstein Coll Med, Dept Genet, New York, NY USA

[47] Univ Pennsylvania, Dept Syst Pharmacol & Translat Therapeut, Perelman Sch Med, Philadelphia, PA USA

[48] Univ Pennsylvania, Dept Genet, Perelman Sch Med, Philadelphia, PA USA

[49] Univ Texas Hlth Sci Ctr, Dept Med, San Antonio, TX USA

[50] South Texas Vet Hlth Care Syst, Res, San Antonio, TX USA

来源：

SCIENTIFIC DATA | 2017年 / 4卷

关键词：

GENOME-WIDE ASSOCIATION; RARE VARIANTS; GENETIC DATA; FRAMEWORK; METAANALYSIS; DISEASE; COMMON; MUTATIONS; DISCOVERY; EFFICIENT;

D O I：

10.1038/sdata.2017.179

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to 82 K Europeans via the exome chip, and similar to 90% of low-frequency non-coding variants in similar to 44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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