The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tōnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop, Christopher Haiman, Craig L. Hanis, Matthew Harms, Mikko Hiltunen, Matti Holi, Christina M. Hultman, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Bong-Jo Kim, Young Jin Kim, George Kirov, Jaspal S. Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Terho Lehtimäki, Ruth J. F. Loos, Steven A. Lubitz, Ronald C.W., Daniel G. MacArthur, Jaume Marrugat, Kari M. Mattila, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Benjamin M. Neale, Peter M. Nilsson, Michael O’Donovan, Döst Öngür, Lorena Orozco, Michael J. Owen, Colin N. A. Palmer, Aarno Palotie, Kyong Soo Park, Carlos N. Pato, Ann E. Pulver, Nazneen Rahman, Anne M. Remes, John D. Rioux, Samuli Ripatti, Dan M. Roden, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Jeremiah M. Scharf, Heribert Schunkert, M. Benjamin Shoemaker, Pamela Sklar, Hilkka Soininen, Harry Sokol, Tim D. Spector, Patrick F. Sullivan, Jaana Suvisaari, E Shyong Tai, Yik Ying Teo, Tuomi Tiinamaija, Ming T. Tsuang, Dan Turner, Teresa Tusié‐Luna, Erkki Vartiainen, Marquis P. Vawter, James S. Ware, Hugh Watkins, Rinse K. Weersma, Maija Wessman, James G. Wilson, Ramnik J. Xavier, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

Nature, 2020

Broad Institute, Massachusetts General Hospital, Harvard University, Institute for Molecular Medicine Finland, Queen Mary University of London, Barts Health NHS Trust, William Harvey Research Institute, Harefield Hospital, MRC London Institute of Medical Sciences, Imperial College London, University of Washington, Wellcome Sanger Institute, Vertex Pharmaceuticals (United States), Boston Children's Hospital, Yale University, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Peninsula College of Medicine and Dentistry, Brigham and Women's Hospital, University of Parma, Albert Einstein College of Medicine, University of Haifa, Cleveland Clinic Lerner College of Medicine, Sorbonne Université, Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Antoine, Boston University, National Heart Lung and Blood Institute, Framingham Heart Study, University of Michigan, National Institutes of Health, National Human Genome Research Institute, Icahn School of Medicine at Mount Sinai, Wake Forest University, University of Leicester, Glenfield Hospital, NIHR Leicester Biomedical Research Centre, Imperial College Healthcare NHS Trust, Ealing Hospital, Ealing Hospital NHS Trust, Chinese University of Hong Kong, McLean Hospital, Jackson Memorial Hospital, University of Mississippi Medical Center, Colorado School of Public Health, University of Illinois Chicago, Texas Biomedical Research Institute, Universitat de Vic - Universitat Central de Catalunya, Centro de Investigación en Red en Enfermedades Cardiovasculares, Centro de Investigación Biomédica en Red, Hospital Del Mar, Hospital del Mar Research Institute, German Centre for Cardiovascular Research, University of Lübeck, University of Tartu, University of Helsinki, Helsinki University Hospital, Christian-Albrechts-Universität zu Kiel, Analysis Group (United States), Hadassah Medical Center, SUNY Upstate Medical University, Columbia University Irving Medical Center, Instituto Nacional de Salud Pública, Lund University, The University of Texas Health Science Center at Houston, Columbia University, University of Eastern Finland, Karolinska Institutet, Korea National Institute of Health, Cardiff University, Finnish Institute for Health and Welfare, Emory University, Seoul National University Hospital, Kuopio University Hospital, Tampere University, Fimlab (Finland), Child Health and Development Institute, Garvan Institute of Medical Research, Murdoch Children's Research Institute, Centre for Human Genetics, Churchill Hospital, John Radcliffe Hospital, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford BioMedica (United Kingdom), Cedars-Sinai Medical Center, University of Ottawa, Skåne University Hospital, National Institute of Genomic Medicine, University of Dundee, Ninewells Hospital, Seoul National University, University of Southern California, Johns Hopkins University, Johns Hopkins Medicine, Institute of Cancer Research, Oulu University Hospital, University of Oulu, Montreal Heart Institute, Université de Montréal, Vanderbilt University Medical Center, Center for Non-Communicable Diseases, University of Pennsylvania, Deutsches Herzzentrum München, Technical University of Munich, Vanderbilt University, Nashville VA Medical Center, King's College London, University of North Carolina at Chapel Hill, National University of Singapore, Duke-NUS Medical School, National University Health System, Folkhälsans Forskningscentrum, University of California San Diego, Joint Center for Structural Genomics, Hebrew University of Jerusalem, Shaare Zedek Medical Center, University of California, Irvine, University Medical Center Groningen, University of Groningen

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This research paper explore the methodology and findings associated with Nature. The study delves into the core aspects of the research field, providing significant data and citation impact. (Full abstract processing is available via the OpenAlex API).

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The mutational constraint spectrum quantified from variation in 141,456 humans

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