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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M; Agarwala, Vineeta; Gaulton, Kyle J; Caulkins, Lizz; Koesterer, Ryan; Ma, Clement; Moutsianas, Loukas; McCarthy, Davis J; Rivas, Manuel A; Perry, John R B; Sim, Xueling; Blackwell, Thomas W; Robertson, Neil R; Rayner, N William; Cingolani, Pablo; Locke, Adam E; Tajes, Juan Fernandez; Highland, Heather M; Dupuis, Josee; Chines, Peter S; Lindgren, Cecilia M; Hartl, Christopher; Jackson, Anne U; Chen, Han; Huyghe, Jeroen R; van de Bunt, Martijn; Pearson, Richard D; Kumar, Ashish; Müller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M; Gamazon, Eric R; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A; Below, Jennifer E; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L; Pasko, Dorota; Parker, Stephen C J; Varga, Tibor V; Green, Todd; Beer, Nicola L; Day-Williams, Aaron G; Ferreira, Teresa.
Afiliação
  • Flannick J; Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Fuchsberger C; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • Mahajan A; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Teslovich TM; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Agarwala V; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Gaulton KJ; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • Caulkins L; Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
  • Koesterer R; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Ma C; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • Moutsianas L; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • McCarthy DJ; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Rivas MA; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Perry JRB; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Sim X; Department of Statistics, University of Oxford, Oxford, UK.
  • Blackwell TW; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Robertson NR; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Rayner NW; Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
  • Cingolani P; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Locke AE; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Tajes JF; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Highland HM; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Dupuis J; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Chines PS; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Lindgren CM; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Hartl C; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Jackson AU; Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
  • Chen H; School of Computer Science, McGill University, Montreal, Quebec, Canada.
  • Huyghe JR; McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
  • van de Bunt M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Pearson RD; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Kumar A; Human Genetics Center, The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Müller-Nurasyid M; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
  • Grarup N; National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, USA.
  • Stringham HM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Gamazon ER; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • Lee J; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Chen Y; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  • Scott RA; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Below JE; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
  • Chen P; Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA.
  • Huang J; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Go MJ; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Stitzel ML; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Pasko D; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Parker SCJ; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Varga TV; Chronic Disease Epidemiology, Swiss Tropical and Public Health Institute, University of Basel, Basel, Switzerland.
  • Green T; Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Beer NL; Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
  • Day-Williams AG; Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU Munich, Germany.
  • Ferreira T; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Sci Data ; 4: 170179, 2017 12 19.
Article em En | MEDLINE | ID: mdl-29257133
ABSTRACT
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 ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Diabetes Mellitus Tipo 2 Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Diabetes Mellitus Tipo 2 Idioma: En Ano de publicação: 2017 Tipo de documento: Article