Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Autor: Goodrich, Julia K, Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B, Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A, Dahl, Andy, Aguilar-Salinas, Carlos A, Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Bowden, Donald W, Centeno-Cruz, Federico, Chambers, John C, Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A, Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, Leif, Gross, Myron, Haiman, Christopher, Han, Sohee, Hanis, Craig L, Hansen, Torben, Heard-Costa, Nancy L, Henderson, Brian E, Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E, Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A, Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M, Linneberg, Allan, Liu, Jianjun, Loos, Ruth JF, Lyssenko, Valeriya, Ma, Ronald CW, Martínez-Hernández, Angélica, Meigs, James B, Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L, Morris, Andrew D, Morrison, Alanna C, Ng, Maggie CY, Nilsson, Peter M, O'Donnell, Christopher J, Orozco, Lorena, Palmer, Colin NA, Park, Kyong Soo, Post, Wendy S, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M, Reiner, Alexander P, Revilla-Monsalve, Cristina, Rich, Stephen S, Rotter, Jerome I, Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, Small, Kerrin S

Publikováno v: Nature communications, vol 12, iss 1

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical util

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bf2cf6d0400cdcd8efed2796a0614c60
https://escholarship.org/uc/item/0dd6m6fw

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Autor: Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Son R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sveden A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wood J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cole JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Watts N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Caulkins L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dornbos P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koesterer R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zappala Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhang H; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Maloney KA; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Dahl A; Department of Neurology, UCLA, Los Angeles, CA, USA., Aguilar-Salinas CA; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico., Atzmon G; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Faculty of Natural Science, University of Haifa, Haifa, Israel.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA., Barajas-Olmos F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Barzilai N; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA., Boerwinkle E; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bonnycastle LL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bottinger E; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bowden DW; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Chambers JC; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore., Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA., Chan E; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore., Chan J; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Cheng CY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore., Cho YS; Department of Biomedical Science, Hallym University, Chuncheon, South Korea., Contreras-Cubas C; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Córdova E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Correa A; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., DeFronzo RA; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA., Duggirala R; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA., Dupuis J; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Garay-Sevilla ME; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico., García-Ortiz H; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Gieger C; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Glaser B; Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., González-Villalpando C; Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Instituto Nacional de Salud Publica, Cuernavaca, Mexico., Gonzalez ME; Centro de Estudios en Diabetes, Mexico City, Mexico., Grarup N; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Groop L; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland., Gross M; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA., Haiman C; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA., Han S; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Hanis CL; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Heard-Costa NL; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA., Henderson BE; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA., Hernandez JMM; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico., Hwang MY; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Islas-Andrade S; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Jørgensen ME; Steno Diabetes Center Copenhagen, Gentofte, Denmark.; National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.; Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland., Kang HM; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Kim BJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Kim YJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Koistinen HA; Department of Public Health Solutions, Finnish Institute for Health and Welfare, Helsinki, Finland.; University of Helsinki and Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland., Kooner JS; Department of Cardiology, Ealing Hospital, London North West Healthcare NHS Trust, London, UK.; MRC-PHE Centre for Environment and Health, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust, Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Kuusisto J; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Kwak SH; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea., Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Lange L; Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA., Lee JY; Oneomics Soonchunhyang Mirae Medical Center, Bucheon-si Gyeonggi-do, Republic of Korea., Lee J; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Lehman DM; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA., Linneberg A; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark.; Department of Clinical Experimental Research, Rigshospitalet, Copenhagen, Denmark., Liu J; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA., Lyssenko V; Centro de Estudios en Diabetes, Mexico City, Mexico.; Department of Clinical Science, University of Bergen, Bergen, Norway., Ma RCW; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Martínez-Hernández A; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Meigs JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA., Meitinger T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site Munich Heart Alliance, Munich, Germany., Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Mohlke KL; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Morris AD; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Department of Biostatistics, University of Liverpool, Liverpool, UK., Morrison AC; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Ng MCY; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Nilsson PM; Department of Clinical Sciences, Medicine, Lund University, Malmö, Sweden., O'Donnell CJ; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Section of Cardiology, Department of Medicine, VA Boston Healthcare, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA.; Intramural Administration Management Branch, National Heart Lung and Blood Institute, NIH, Framingham, MA, USA., Orozco L; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Palmer CNA; Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, University of Dundee, Dundee, UK., Park KS; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, South Korea., Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Pedersen O; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Preuss M; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Psaty BM; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Research Institute, Seattle, WA, USA., Reiner AP; Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Revilla-Monsalve C; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Rich SS; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Saleheen D; Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan., Schurmann C; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Digital Health Center, Hasso Plattner Institute, University of Potsdam, Prof.-Dr.-Helmert-Str. 2-3, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA., Sim X; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Sladek R; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, QC, Canada.; McGill University and Génome Québec Innovation Centre, Montreal, QC, Canada., Small KS; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., So WY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Spector TD; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Strauch K; Institute of Genetic Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany.; Institute for Medical Informatics Biometry and Epidemiology, Ludwig-Maximilians University, Munich, Germany., Strom TM; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Tai ES; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Tam CHT; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Teo YY; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Life Sciences Institute, National University of Singapore, Singapore, Singapore.; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore., Thameem F; Department of Biochemistry, Faculty of Medicine, Health Science Center, Kuwait University, Safat, Kuwait., Tomlinson B; Faculty of Medicine, Macau University of Science & Technology, Macau, China., Tracy RP; Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Department of Biochemistry, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA., Tuomi T; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Helsinki, Finland.; Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Clinical and Molecular Medicine, University of Helsinki, Helsinki, Finland., Tuomilehto J; Public Health Promotion Unit, Finnish Institute for Health and Welfare, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.; Saudi Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of International Health, National School of Public Health, Instituto de Salud Carlos III, Madrid, Spain., Tusié-Luna T; Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Medicina Genómica y Toxiología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico., van Dam RM; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA., Vasan RS; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Preventive Medicine & Epidemiology, and Cardiovascular Medicine, Medicine, Boston University School of Medicine, and Epidemiology, Boston University School of Public health, Boston, MA, USA., Wilson JG; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA., Witte DR; Department of Public Health, Aarhus University, Aarhus, Denmark.; Danish Diabetes Academy, Odense, Denmark., Wong TY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore., Burtt NP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zaitlen N; Department of Neurology, UCLA, Los Angeles, CA, USA., McCarthy MI; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Genentech, South San Francisco, CA, USA., Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Pollin TI; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Flannick J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Mercader JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Florez JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Udler MS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mudler@mgh.harvard.edu.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. mudler@mgh.harvard.edu.

Publikováno v: Nature communications [Nat Commun] 2021 Jun 09; Vol. 12 (1), pp. 3505. Date of Electronic Publication: 2021 Jun 09.