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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Gudmundsson, Sanna; Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane.
Afiliação
  • Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Francioli LC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.
  • Cummings BB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.
  • Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Wang Q; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Laricchia KM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Ganna A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Birnbaum DP; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Gauthier LD; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
  • Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Solomonson M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rhodes D; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Singer-Berk M; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
  • England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Seaby EG; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
  • Kosmicki JA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Walters RK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Tashman K; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Farjoun Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Banks E; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Poterba T; Institute for Molecular Medicine Finland, Helsinki, Finland.
  • Wang A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Whiffin N; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Chong JX; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Pierce-Hoffman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Zappala Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • O'Donnell-Luria AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Minikel EV; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Weisburd B; 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.
  • Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ware JS; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Armean IM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Bergelson L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cibulskis K; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Connolly KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Covarrubias M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Donnelly S; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
  • Ferriera S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Gabriel S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Gentry J; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Jeandet T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Kaplan D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nature ; 597(7874): E3-E4, 2021 09.
Article em En | MEDLINE | ID: mdl-34373650
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Nature Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Nature Ano de publicação: 2021 Tipo de documento: Article