Accès ouvert déclaré 2023 article

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Harrison Brand, Steven R. Brant, Ted Brookings, Sam Bryant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Kristen M. Connolly, Adolfo Correa, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Phil Darnowsky, Joshua C. Denny, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Diane Fatkin, José C. Florez, André Franke, Jack Fu, Martti Färkkilâ, Kiran Garimella, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein, Clicerio González, Leif Groop, Sanna Gudmundsson, Andrea Haessly, Christopher A. Haiman, Ira M. Hall, Craig L. Hanis, Matthew Harms, Mikko Hiltunen, Matti Holi, Christina M. Hultman, Chaim Jalas, Mikko Kallela, Diane Kaplan, Jaakko Kaprio, Sekar Kathiresan, Eimear E. Kenny, Bong‐Jo Kim, Young Jin Kim, Daniel A. King, George Kirov, Jaspal S. Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Nicole J. Lake, Trevyn Langsford, Kristen M. Laricchia, Terho Lehtimäki, Monkol Lek, Emily Lipscomb, Ruth J. F. Loos, Wenhan Lu, Steven A. Lubitz, Teresa Tusie Luna, Ronald C.W., Gregory M. Marcus, Jaume Marrugat, Kari M. Mattila, Steven A. McCarroll, Mark I. McCarthy, Jacob L. McCauley, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Deborah A. Meyers, Eric Vallabh Minikel, Braxton D. Mitchell, Vamsi K. Mootha, Aliya Naheed, Saman Nazarian, Peter M. Nilsson, Michael O‘Donovan, Yukinori Okada, Döst Öngür, Lorena Orozco, Michael J. Owen, Aarno Palotie, Kyong Soo Park, Carlos N. Pato, Ann E. Pulver, Dan Rader, Nazneen Rahman, Alex P. Reiner, Anne M. Remes, Dan Rhodes, Stephen S. Rich, John D. Rioux, Samuli Ripatti, Dan M. Roden, Jerome I. Rotter, Nareh Sahakian, Danish Saleheen, Veikko Salomaa, Andrea Saltzman, Nilesh J. Samani, Kaitlin E. Samocha, Alba Sanchis-Juan, Jeremiah M. Scharf, Molly Schleicher, Heribert Schunkert, Sebastian Schönherr, Eleanor G. Seaby, Svati H. Shah, Megan Shand, Ted Sharpe, M. Benjamin Shoemaker, Tai E. Shyong, Edwin K. Silverman, Moriel Singer‐Berk, Pamela Sklar, Jonathan T. Smith, J. G. Smith, Hilkka Soininen, Harry Sokol, Rachel G. Son, José Soto, Tim D. Spector, Christine Stevens, Nathan O. Stitziel, Patrick F. Sullivan, Jaana Suvisaari, E Shyong Tai, Kent D. Taylor, Yik Ying Teo, Ming T. Tsuang, Dan Turner, Teresa Tusié‐Luna, Erkki Vartiainen, Marquis P. Vawter, Lily Wang, Arcturus Wang, James S. Ware, Hugh Watkins, Rinse K. Weersma, Ben Weisburd, Maija Wessman, Nicola Whiffin, James G. Wilson, Ramnik J. Xavier, Anne O’Donnell‐Luria, Matthew Solomonson, Cotton Seed, Alicia R. Martin, Michael E. Talkowski, Heidi L. Rehm, Mark J. Daly, Grace Tiao, Benjamin M. Neale, Daniel G. MacArthur, Konrad J. Karczewski

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169Institutions déclarées

24Pays d’affiliation déclarés

Rattachement africain : us, jp, mx, gb, it, il, fr, cr, hk, ca, es, de, ee, au, fi, se, kr, dk, bd, pk, at, sg, hu, nl. Niveau de preuve : code pays fourni par la source.

Résumé indisponible. Les résultats de l’étude ne doivent pas être déduits de son seul titre.

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: A genomic mutational constraint map using variation in 76,156 human genomes
Date Crossref: 06/12/2023
Éditeur: Springer Science and Business Media LLC
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Broad Institute Massachusetts General Hospital Harvard University The University of Osaka Boston Children's Hospital University of Miami Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Peninsula College of Medicine and Dentistry Brigham and Women's Hospital University of Parma Baylor College of Medicine 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 Framingham Heart Study University of Michigan Statistical Research (United States)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 Rutgers, The State University of New Jersey Johns Hopkins University Johns Hopkins Medicine Fulcrum Therapeutics (United States)Fulcrum Corporation (United States)Universidad Americana Imperial College Healthcare NHS Trust Ealing Hospital Ealing Hospital NHS Trust Imperial College London Chinese University of Hong Kong Northwestern University University of Cambridge Cleveland Clinic Columbia University Irving Medical Center McLean Hospital Jackson Memorial Hospital University of Mississippi Medical Center Colorado School of Public Health University of Illinois Chicago Vanderbilt University Medical Center Texas A&M University – San Antonio McGill University 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 College of Law and Business Alzheimer's Association of Israel Clalit Health Services Technical University of Applied Sciences Lübeck German Centre for Cardiovascular Research University of Lübeck University of Tartu Victor Chang Cardiac Research Institute UNSW Sydney St Vincent's Hospital Sydney Christian-Albrechts-Universität zu Kiel University Hospital Schleswig-Holstein Helsinki University Hospital Wisdom Health (United States)Hebrew University of Jerusalem Hadassah Medical Center SUNY Upstate Medical University Instituto Nacional de Salud Pública University of Helsinki Lund University Institute for Molecular Medicine Finland University of Southern California Washington University in St. Louis The University of Texas Health Science Center at Houston Columbia University University of Eastern Finland Karolinska Institutet Kingsbrook Jewish Medical Center Genomic Health (United States)Korea National Institute of Health Cardiff University Finnish Institute for Health and Welfare Yale New Haven Hospital Yale University Emory University Seoul National University Hospital Kuopio University Hospital Tampere University of Applied Sciences Tampere University Tampere University Fimlab (Finland)University of Copenhagen Novo Nordisk Foundation Child Health and Development Institute Universidad Nacional Autónoma de México University of California, San Francisco Centre for Human Genetics John Radcliffe Hospital University of Oxford Oxford Centre for Diabetes, Endocrinology and Metabolism Oxford BioMedica (United Kingdom)Dr. John T. Macdonald Foundation Cedars-Sinai Medical Center University of Ottawa University of Arizona University of Maryland, Baltimore Howard Hughes Medical Institute International Centre for Diarrhoeal Disease Research University of Pennsylvania Skåne University Hospital National Institute of Genomic Medicine University of Dundee Ninewells Hospital Seoul National University Children's Hospital of Philadelphia Institute of Cancer Research University of Washington Fred Hutch Cancer Center Oulu University Hospital University of Oulu University of Virginia Montreal Heart Institute Université de Montréal UCLA Medical Center Harbor–UCLA Medical Center Center for Non-Communicable Diseases Deutsches Herzzentrum München Technical University of Munich Innsbruck Medical University Universität Innsbruck University of Southampton Duke University Duke Medical Center Vanderbilt University Nashville VA Medical Center National University Hospital National University Health System Sahlgrenska University Hospital University of Gothenburg Inserm AgroParisTech Microbiologie de l’alimentation au service de la santé Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine Centre de Recherche Saint-Antoine King's College London James S. McDonnell Foundation University of North Carolina at Chapel Hill National University of Singapore Duke-NUS Medical School University of California San Diego Institute of Genetics Folkhälsans Forskningscentrum Shaare Zedek Medical Center University of California, Irvine Guy's and St Thomas' NHS Foundation Trust Harefield Hospital MRC London Institute of Medical Sciences University Medical Center Groningen University of Groningen Open Data Institute Beth Israel Deaconess Medical Center Garvan Institute of Medical Research Murdoch Children's Research Institute

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenomics and Chromatin Dynamics

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