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Rare penetrant mutations confer severe risk of common diseases.
Fiziev, Petko P; McRae, Jeremy; Ulirsch, Jacob C; Dron, Jacqueline S; Hamp, Tobias; Yang, Yanshen; Wainschtein, Pierrick; Ni, Zijian; Schraiber, Joshua G; Gao, Hong; Cable, Dylan; Field, Yair; Aguet, Francois; Fasnacht, Marc; Metwally, Ahmed; Rogers, Jeffrey; Marques-Bonet, Tomas; Rehm, Heidi L; O'Donnell-Luria, Anne; Khera, Amit V; Farh, Kyle Kai-How.
Afiliação
  • Fiziev PP; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • McRae J; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Ulirsch JC; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Dron JS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Hamp T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Yang Y; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Wainschtein P; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Ni Z; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Schraiber JG; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
  • Gao H; Department of Statistics, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Cable D; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Field Y; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Aguet F; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology (MIT), Cambridge, MA 02142, USA.
  • Fasnacht M; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Metwally A; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Rogers J; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Marques-Bonet T; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.
  • Rehm HL; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • O'Donnell-Luria A; Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, WI 53715, USA.
  • Khera AV; Institute of Evolutionary Biology (UPF-CSIC), 08003 Barcelona, Spain.
  • Farh KK; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
Science ; 380(6648): eabo1131, 2023 06 02.
Article em En | MEDLINE | ID: mdl-37262146
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Penetrância / Predisposição Genética para Doença / Herança Multifatorial Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Penetrância / Predisposição Genética para Doença / Herança Multifatorial Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article