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Rare penetrant mutations confer severe risk of common diseases.
Fiziev, Petko; 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; Kai-How Farh, Kyle.
Afiliación
  • Fiziev P; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • McRae J; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Ulirsch JC; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Dron JS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Hamp T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard; Cambridge, Massachusetts 02142, USA.
  • Yang Y; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Wainschtein P; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Ni Z; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Schraiber JG; Department of Statistics, UW Madison; Madison, Wisconsin 53706, USA.
  • Gao H; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Cable D; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Field Y; Department of Electrical Engineering and Computer Science, MIT; Cambridge, Massachusetts 02142, USA.
  • Aguet F; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Fasnacht M; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Metwally A; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Rogers J; Artificial Intelligence Laboratory, Illumina, Inc.; San Diego, California 92122, USA.
  • Marques-Bonet T; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine; Houston, Texas 77030, USA.
  • Rehm HL; Wisconsin National Primate Research Center, University of Wisconsin; Madison 53715, USA.
  • O'Donnell-Luria A; Institute of Evolutionary Biology (UPF-CSIC); 08003 Barcelona, Spain.
  • Khera AV; Catalan Institution of Research and Advanced Studies (ICREA); 08010 Barcelona, Spain.
  • Kai-How Farh K; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); 08003 Barcelona, Spain.
medRxiv ; 2023 May 08.
Article en En | MEDLINE | ID: mdl-37205493
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos