Sequence data and association statistics from 12,940 type 2 diabetes cases and controls View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12-19

AUTHORS

Flannick Jason, Christian Fuchsberger, Anubha Mahajan, Tanya M. Teslovich, Vineeta Agarwala, Kyle J. Gaulton, Lizz Caulkins, Ryan Koesterer, Clement Ma, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, N William Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernandez Tajes, Heather M. Highland, Josee Dupuis, Peter S. Chines, Cecilia M. Lindgren, Christopher Hartl, Anne U. Jackson, Han Chen, Jeroen R. Huyghe, Martijn van de Bunt, Richard D. Pearson, Ashish Kumar, Martina Müller-Nurasyid, Niels Grarup, Heather M. Stringham, Eric R. Gamazon, Jaehoon Lee, Yuhui Chen, Robert A. Scott, Jennifer E. Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L. Stitzel, Dorota Pasko, Stephen C. J. Parker, Tibor V. Varga, Todd Green, Nicola L. Beer, Aaron G. Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J. Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P. Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F. Voight, Bok-Ghee Han, Christopher P. Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C. Y. Ng, Nicholette D. Palmer, Beverley Balkau, Alena Stančáková, Hanna E. Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D. Smith, Benjamin M. Neale, Shaun Purcell, Adam S. Butterworth, Joanna M. M. Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K. L. Lam, Kyong Soo Park, Danish Saleheen, Yee So, Claudia H. T. Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E. Curran, Dennis Rybin, Vidya S. Farook, Sharon P. Fowler, Barry I. Freedman, Michael Griswold, Daniel Esten Hale, Pamela J. Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Marie Loh, Solomon K. Musani, Sobha Puppala, William R. Scott, Loïc Yengo, Sian-Tsung Tan, Herman A. Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål Rasmus Njølstad, Jonathan C. Levy, Massimo Mangino, Lori L. Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela L. Surdulescu, Christian Herder, Christopher J. Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A. Koistinen, Alex S. F. Doney, Leena Kinnunen, Tõnu Esko, Andrew J. Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeri Lyssenko, Mette Hollensted, Marit E. Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H. Rosengren, Kathleen Stirrups, Andrew R. Wood, Evelin Mihailov, Christine Blancher, Mauricio O. Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabé de Angelis, Panos Deloukas, Anette P. Gjesing, Goo Jun, Peter Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B. Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen P O'Rahilly, Colin N. A. Palmer, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M. Watanabe, Ann-Christine Syvänen, Richard N. Bergman, Dwaipayan Bharadwaj, Erwin P. Bottinger, Yoon Shin Cho, Giriraj R. Chandak, Juliana CN Chan, Kee Seng Chia, Mark J. Daly, Shah B. Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A. Jablonski, Donna M. Lehman, Weiping Jia, Ronald C. W., Toni I. Pollin, Manjinder Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J. F. Loos, Kerrin S. Small, Janina S. Ried, Ralph A. DeFronzo, Harald Grallert, Benjamin Glaser, Andres Metspalu, Nicholas J. Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W. Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R. Owen, Anna L. Gloyn, Konstantin Strauch, Tiinamaija Tuomi, Jaspal Singh Kooner, Jong-Young Lee, Taesung Park, Peter Donnelly, Andrew D. Morris, Andrew T. Hattersley, Donald W. Bowden, Francis S. Collins, Gil Atzmon, John C. Chambers, Timothy D. Spector, Markku Laakso, Tim M. Strom, Graeme I. Bell, John Blangero, Ravindranath Duggirala, E. Shyong Tai, Gilean McVean, Craig L. Hanis, James G. Wilson, Mark Seielstad, Timothy M. Frayling, James B. Meigs, Nancy J. Cox, Rob Sladek, Eric S. Lander, Stacey Gabriel, Karen L. Mohlke, Thomas Meitinger, Leif Groop, Goncalo Abecasis, Laura J. Scott, Andrew P. Morris, Hyun Min Kang, David Altshuler, Noël P. Burtt, Jose C. Florez, Michael Boehnke, Mark I. McCarthy

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. More... »

PAGES

170179

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  • Journal

    TITLE

    Scientific Data

    ISSUE

    1

    VOLUME

    4

    Author Affiliations

  • Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
  • Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA
  • Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK
  • Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
  • Department of Statistics, University of Oxford, Oxford, UK
  • Department of Twin Research and Genetic Epidemiology, King's College London, London, UK
  • Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK
  • Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK
  • McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada
  • 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
  • National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, USA
  • Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  • Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA
  • Chronic Disease Epidemiology, Swiss Tropical and Public Health Institute, University of Basel, Basel, Switzerland
  • DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany
  • The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
  • Department of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, Illinois, USA
  • Department of Statistics, Seoul National University, Seoul, Republic of Korea
  • MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK
  • Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA
  • Saw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore, Singapore
  • Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
  • Center for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea
  • The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA
  • Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK
  • Departments of Computational Medicine & Bioinformatics and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
  • Department of Clinical Sciences, Lund University Diabetes Centre, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden
  • Department of Epidemiology, Colorado School of Public Health, University of Colorado, Aurora, Colorado, USA
  • Department of Endocrinology and Metabolism, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China
  • The Eye Academic Clinical Programme, Duke-NUS Graduate Medical School, Singapore, Singapore
  • Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea
  • Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
  • Department of Cardiology, Ealing Hospital NHS Trust, Southall, Middlesex, UK
  • Departments of Medicine and Genetics, Albert Einstein College of Medicine, New York, USA
  • Department of Genetics, University of Pennsylvania—Perelman School of Medicine, Philadelphia, Pennsylvania, USA
  • Research, South Texas Veterans Health Care System, San Antonio, Texas, USA
  • Faculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland
  • Kuopio University Hospital, Kuopio, Finland
  • Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
  • Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
  • Centre for Research in Epidemiology and Population Health, Inserm U1018, Villejuif, France
  • Department of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA
  • German Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany
  • Department of Public Health and Caring Sciences, Geriatrics, Uppsala University, Uppsala, Sweden
  • Centre for Chronic Disease Control, New Delhi, India
  • The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, USA
  • National Heart and Lung Institute, Cardiovascular Sciences, Hammersmith Campus, Imperial College London, London, UK
  • Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
  • Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Department of Psychiatry, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, USA
  • Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China
  • Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
  • Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  • NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, and College of Medicine, Seoul National University, Seoul, Republic of Korea
  • Center for Non-Communicable Diseases, Karachi, Pakistan
  • Department of Epidemiology and Biostatistics, Imperial College London, London, UK
  • Cardiovascular Division, Baylor College of Medicine, Houston, Texas, USA
  • Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA
  • Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore
  • Unit of Preventive Medicine and Public Health, School of Medicine, University of Murcia, Spain
  • Cancer Research and Prevention Institute (ISPO), Florence, Italy
  • Department of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • South Texas Diabetes and Obesity Institute, Regional Academic Health Center, University of Texas Health Science Center at San Antonio/University of Texas Rio Grande Valley, Brownsville, Texas, USA
  • Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA
  • Department of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA
  • Department of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
  • Center of Biostatistics and Bioinformatics, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • Division of Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore
  • CNRS-UMR8199, Lille University, Lille Pasteur Institute, Lille, France
  • Translational Laboratory in Genetic Medicine (TLGM), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore
  • Jackson Heart Study, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • College of Public Services, Jackson State University, Jackson, Mississippi, USA
  • Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
  • NIHR Biomedical Research Centre at Guy’s and St Thomas’ Foundation Trust, London, UK
  • Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
  • Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden
  • German Center for Diabetes Research (DZD), München-Neuherberg, Germany
  • Department of Clinical Biochemistry, Vejle Hospital, Vejle, Denmark
  • Department of Internal Medicine and Endocrinology, Vejle Hospital, Vejle, Denmark
  • Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
  • Division of Cardiovascular and Diabetes Medicine, Medical Research Institute, Ninewells Hospital and Medical School, Dundee, UK
  • Department of Health, National Institute for Health and Welfare, Helsinki, Finland
  • Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA
  • Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK
  • Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland
  • Steno Diabetes Center, Gentofte, Denmark
  • Faculty of Medicine, Aalborg University, Aalborg, Denmark
  • Diabetes Center, Vaasa Health Care Center, Vaasa, Finland
  • Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
  • Institute for Biometrics and Epidemiology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany
  • Department of Public Health, Section of General Practice, Aarhus University, Aarhus, Denmark
  • Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
  • Department of Clinical Sciences, Hypertension and Cardiovascular Disease, Lund University, Malmö, Sweden
  • Estonian Genome Center, University of Tartu, Tartu, Estonia
  • Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK
  • Department of Clinical Sciences, Diabetes and Cardiovascular Disease, Genetic Epidemiology, Lund University, Malmö, Sweden
  • Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA
  • Department of Epidemiology and Population Health, Albert Einstein College of Medicine, New York, USA
  • Division of Endocrinology and Diabetology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany
  • Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden
  • High Throughput Genomics, Oxford Genomics Centre, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK
  • Center of Life and Food Sciences Weihenstephan, Technische Universität München, Freising-Weihenstephan, Germany
  • Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia
  • Department of Clinical Sciences, Medicine, Lund University, Malmö, Sweden
  • Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
  • Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
  • Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA
  • Department of Social Services and Health Care, Jakobstad, Finland
  • Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, UK
  • Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Medical Research Institute, Ninewells Hospital and Medical School, Dundee, UK
  • Foundation for Research in Health, Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine, Kuopio, Finland
  • National Institute for Health and Welfare, Helsinki, Finland
  • Diabetes and Obesity Research Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
  • Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden
  • Cedars-Sinai Diabetes and Obesity Research Institute, Los Angeles, California, USA
  • Functional Genomics Unit, CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB), New Delhi, India
  • Department of Biomedical Science, Hallym University, Chuncheon, Republic of Korea
  • CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India
  • Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China
  • MRC-PHE Centre for Environment and Health, Imperial College London, London, UK
  • The Biostatistics Center, The George Washington University, Rockville, Maryland, USA
  • Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, and Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA
  • Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India
  • Department of Genomics of Common Disease, School of Public Health, Imperial College London, London, UK
  • Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore
  • Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
  • Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • The Medical School, Institute of Cellular Medicine, Newcastle University, Newcastle, UK
  • Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden
  • Department of Human Genetics, Hannover Medical School, Hanover, Germany
  • Department of Medical Sciences, Uppsala University, Uppsala, Sweden
  • Data Sciences and Data Engineering, Broad Institute, Cambridge, Massachusetts, USA
  • Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU Munich, Germany
  • Finnish Institute for Molecular Medicine, University of Helsinki, Helsinki, Finland
  • Imperial College Healthcare NHS Trust, Imperial College London, London, UK
  • The Usher Institute to the Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK
  • University of Exeter Medical School, University of Exeter, Exeter, UK
  • Department of Natural Science, University of Haifa, Haifa, Israel
  • Institute of Human Genetics, Technische Universität München, Munich, Germany
  • Departments of Medicine and Human Genetics, The University of Chicago, Chicago, Illinois, USA
  • Cardiovascular & Metabolic Disorders Program, Duke-NUS Medical School Singapore, Singapore, Singapore
  • Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
  • Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • Blood Systems Research Institute, San Francisco, California, USA
  • General Medicine Division, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
  • Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, Quebec, Canada
  • Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
  • Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA
  • Department of Biostatistics, University of Liverpool, Liverpool, UK
  • Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
  • Diabetes Research Center (Diabetes Unit), Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Identifiers

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    http://dx.doi.org/10.1038/sdata.2017.179

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29257133


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    28 schema:description 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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    92 schema:name Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
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