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- March 10, 2019.
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Author Information
- Qingbo Wang1,2,4,
- Emma Pierce-Hoffman1,
- Beryl B. Cummings1,2,3,
- Konrad J. Karczewski1,2,
- Jessica Alföldi1,2,
- Laurent C. Francioli1,2,
- Laura D. Gauthier1,
- Andrew J. Hill1,5,
- Anne H. O’Donnell-Luria1,2,
- Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium and
- Daniel G. MacArthur1,2
- 1Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
- 2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
- 3Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA
- 4Program in Biomedical and Biological Sciences, Harvard Medical School, Boston, MA, USA
- 5Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA
- 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
- 3European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom
- 4Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 5Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
- 6Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA 02115, USA
- 7Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 8Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA
- 9Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 10Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 11Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts 02115, USA
- 12Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
- 13Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK
- 14National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London UK
- 15Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London UK
- 1Unidad de Investigacion de Enfermedades Metabolicas. Instituto Nacional de Ciencias Medicas y Nutricion. Mexico City
- 2Peninsula College of Medicine and Dentistry, Exeter, UK
- 3Division of Preventive Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, USA
- 4Division of Cardiovascular Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA
- 5Department of Cardiology, University Hospital, 43100 Parma, Italy
- 6Department of Biology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel
- 7Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY, USA, 10461
- 8Department of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44122, USA
- 9Sorbonne Université, APHP, Gastroenterology Department, Saint Antoine Hospital, Paris, France
- 10NHLBI and Boston University’s Framingham Heart Study, Framingham, Massachusetts, USA
- 11Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
- 12Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA
- 13Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109
- 14National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
- 15The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY
- 16Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA
- 17Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA
- 18Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA
- 19Department of Cardiovascular Sciences, University of Leicester, Leicester, UK
- 20NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK
- 21Department of Epidemiology and Biostatistics, Imperial College London, London, UK
- 22Department of Cardiology, Ealing Hospital NHS Trust, Southall, UK
- 23Imperial College Healthcare NHS Trust, Imperial College London, London, UK
- 24Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China
- 25Department of Medicine, Harvard Medical School, Boston, MA
- 26Departments of Cardiovascular Medicine, Cellular and Molecular Medicine, Molecular Cardiology, and Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio, USA
- 27McLean Hospital, Belmont, MA
- 28Department of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA
- 29Department of Epidemiology, Colorado School of Public Health, Aurora, Colorado, USA
- 30Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
- 31Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
- 32Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
- 33Department of Medicine and Pharmacology, University of Illinois at Chicago
- 34Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA
- 35Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
- 36National Heart, Lung, and Blood Institute’s Framingham Heart Study, Framingham, MA 01702, USA
- 37Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA
- 38Cardiovascular Epidemiology and Genetics, Hospital del Mar Medical Research Institute (IMIM). Barcelona, Catalonia, Spain
- 39CIBER CV, Barcelona, Catalonia, Spain
- 40Departament of Medicine, Medical School, University of Vic-Central University of Catalonia. Vic, Catalonia, Spain
- 41Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany
- 421. DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, 23562 Lübeck, Germany
- 43University Heart Center Lübeck, 23562 Lübeck, Germany
- 44Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia
- 45Helsinki University and Helsinki University Hospital, Clinic of Gastroenterology, Helsinki, Finland
- 46Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital; Programs in Metabolism and Medical & Population Genetics, Broad Institute; Department of Medicine, Harvard Medical School
- 47Institute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University of Kiel, Kiel, Germany
- 48Bioinformatics Program, MGH Cancer Center and Department of Pathology
- 49Cancer Genome Computational Analysis, Broad Institute
- 50Endocrinology and Metabolism Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
- 51Department of Psychiatry and Behavioral Sciences; SUNY Upstate Medical University
- 52Institute for Genomic Medicine, Columbia University Medical Center, Hammer Health Sciences, 1408, 701 West 168th Street, New York, New York 10032, USA
- 53Department of Genetics & Development, Columbia University Medical Center, Hammer Health Sciences, 1602, 701 West 168th Street, New York, New York 10032, USA
- 54Centro de Investigacion en Salud Poblacional. Instituto Nacional de Salud Publica MEXICO
- 55Lund University, Sweden
- 56Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
- 57Lund University Diabetes Centre
- 58Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030
- 59Departmentg of Neurology, Columbia University
- 60Institute of Genomic Medicine, Columbia University
- 61Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland
- 62Department of Psychiatry, PL 320, Helsinki University Central Hospital, Lapinlahdentie, 00 180 Helsinki, Finland
- 63Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
- 64Icahn School of Medicine at Mount Sinai, New York, NY, USA
- 65Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
- 66Department of Public Health, Faculty of Medicine, University of Helsinki, Finland
- 67Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
- 68Cardiovascular Disease Initiative and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
- 69Center for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea
- 70MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University School of Medicine, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ
- 71National Heart and Lung Institute, Cardiovascular Sciences, Hammersmith Campus, Imperial College London, London, UK
- 72Department of Health, THL-National Institute for Health and Welfare, 00271 Helsinki, Finland
- 73Section of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut3Center for Outcomes Research and Evaluation, Yale-New Haven Hospital, New Haven, Connecticut
- 74Division of Pediatric Gastroenterology, Emory University School of Medicine, Atlanta, Georgia, USA
- 75Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea
- 76The University of Eastern Finland, Institute of Clinical Medicine, Kuopio, Finland
- 77Kuopio University Hospital, Kuopio, Finland
- 78Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Finland
- 79The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY
- 80Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China
- 81Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China
- 82Cardiovascular Research REGICOR Group, Hospital del Mar Medical Research Institute (IMIM). Barcelona, Catalonia
- 83Department of Genetics, Harvard Medical School, Boston, MA, USA
- 84Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ UK
- 85Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
- 86Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK
- 87F Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA
- 88Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Canada
- 89Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, 02114
- 90Program in Population and Medical Genetics, Broad Institute, Cambridge, MA
- 91Department of Clinical Sciences, University Hospital Malmo Clinical Research Center, Lund University, Malmo, Sweden
- 92Lund University, Dept. Clinical Sciences, Skane University Hospital, Malmo, Sweden
- 93Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City, 14610, Mexico
- 94Medical Research Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
- 95Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, Republic of Korea
- 96Department of Psychiatry, Keck School of Medicine at the University of Southern California, Los Angeles, California, USA
- 97Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
- 98Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG
- 99Medical Research Center, Oulu University Hospital, Oulu, Finland and Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
- 100Research Center, Montreal Heart Institute, Montreal, Quebec, Canada, H1T 1C8
- 101Department of Medicine, Faculty of Medicine, Université de Montréal, Québec, Canada
- 102Broad Institute of MIT and Harvard, Cambridge MA, USA
- 103Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
- 104Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA
- 105Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
- 106Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
- 107Center for Non-Communicable Diseases, Karachi, Pakistan
- 108National Institute for Health and Welfare, Helsinki, Finland
- 109Deutsches Herzzentrum München, Germany
- 110Technische Universität München
- 111Division of Cardiovascular Medicine, Nashville VA Medical Center and Vanderbilt University, School of Medicine, Nashville, TN 37232-8802, USA
- 112Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- 113Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- 114Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- 115Institute of Clinical Medicine, neurology, University of Eastern Finad, Kuopio, Finland
- 116Department of Twin Research and Genetic Epidemiology, King’s College London, London UK
- 117Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA
- 118Saw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore
- 119Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
- 120Duke-NUS Graduate Medical School, Singapore
- 121Life Sciences Institute, National University of Singapore, Singapore
- 122Department of Statistics and Applied Probability, National University of Singapore, Singapore
- 123Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland
- 124HUCH Abdominal Center, Helsinki University Hospital, Helsinki, Finland
- 125Center for Behavioral Genomics, Department of Psychiatry, University of California, San Diego
- 126Institute of Genomic Medicine, University of California, San Diego
- 127Juliet Keidan Institute of Pediatric Gastroenterology, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel
- 128Instituto de Investigaciones Biomédicas UNAM Mexico City
- 129Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City
- 130National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London UK
- 131Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London UK
- 132Radcliffe Department of Medicine, University of Oxford, Oxford UK
- 133Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, the Netherlands
- 134Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA
- 135Program in Infectious Disease and Microbiome, Broad Institute of MIT and Harvard, Cambridge, MA, USA
- 136Center for Computational and Integrative Biology, Massachusetts General Hospital