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

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第一作者: Sanna,Gudmundsson
第一单位: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
作者: Sanna,Gudmundsson [1] ; Konrad J,Karczewski [2] ; Laurent C,Francioli [3] ; Grace,Tiao [3] ; Beryl B,Cummings [4] ; Jessica,Alföldi [3] ; Qingbo,Wang [5] ; Ryan L,Collins [6] ; Kristen M,Laricchia [3] ; Andrea,Ganna [7] ; Daniel P,Birnbaum [3] ; Laura D,Gauthier [8] ; Harrison,Brand [9] ; Matthew,Solomonson [3] ; Nicholas A,Watts [3] ; Daniel,Rhodes [10] ; Moriel,Singer-Berk [3] ; Eleina M,England [3] ; Eleanor G,Seaby [3] ; Jack A,Kosmicki [5] ; Raymond K,Walters [11] ; Katherine,Tashman [11] ; Yossi,Farjoun [8] ; Eric,Banks [8] ; Timothy,Poterba [11] ; Arcturus,Wang [11] ; Cotton,Seed [11] ; Nicola,Whiffin [12] ; Jessica X,Chong [13] ; Kaitlin E,Samocha [14] ; Emma,Pierce-Hoffman [3] ; Zachary,Zappala [15] ; Anne H,O'Donnell-Luria [16] ; Eric Vallabh,Minikel [17] ; Ben,Weisburd [8] ; Monkol,Lek [18] ; James S,Ware [19] ; Christopher,Vittal [20] ; Irina M,Armean [3] ; Louis,Bergelson [8] ; Kristian,Cibulskis [8] ; Kristen M,Connolly [21] ; Miguel,Covarrubias [8] ; Stacey,Donnelly [17] ; Steven,Ferriera [21] ; Stacey,Gabriel [21] ; Jeff,Gentry [8] ; Namrata,Gupta [22] ; Thibault,Jeandet [8] ; Diane,Kaplan [8] ; Christopher,Llanwarne [8] ; Ruchi,Munshi [8] ; Sam,Novod [8] ; Nikelle,Petrillo [8] ; David,Roazen [8] ; Valentin,Ruano-Rubio [8] ; Andrea,Saltzman [17] ; Molly,Schleicher [17] ; Jose,Soto [8] ; Kathleen,Tibbetts [8] ; Charlotte,Tolonen [8] ; Gordon,Wade [8] ; Michael E,Talkowski [23] ; Genome Aggregation Database Consortium [11] ; Benjamin M,Neale [24] ; Mark J,Daly [25] ; Daniel G,MacArthur
作者单位: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. [1] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org. [2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. [3] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA. [4] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA. [5] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. [6] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Institute for Molecular Medicine Finland, Helsinki, Finland. [7] Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [8] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. [9] Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK. [10] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [11] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK. [12] Department of Pediatrics, University of Washington, Seattle, WA, USA. [13] Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. [14] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Vertex Pharmaceuticals Inc, Boston, MA, USA. [15] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.;Department of Pediatrics, Harvard Medical School, Boston, MA, USA. [16] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [17] Department of Genetics, Yale School of Medicine, New Haven, CT, USA. [18] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK. [19] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [20] Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [21] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [22] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA. [23] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Institute for Molecular Medicine Finland, Helsinki, Finland.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [24] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.;Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia. d.macarthur@garvan.org.au.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. d.macarthur@garvan.org.au. [25]
DOI 10.1038/s41586-021-03758-y
PMID 34373650
发布时间 2024-02-14
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