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Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin, Nicola; Minikel, Eric; Walsh, Roddy; O'Donnell-Luria, Anne H; Karczewski, Konrad; Ing, Alexander Y; Barton, Paul J R; Funke, Birgit; Cook, Stuart A; MacArthur, Daniel; Ware, James S.
Afiliação
  • Whiffin N; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.
  • Minikel E; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London, London, UK.
  • Walsh R; Analytic &Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • O'Donnell-Luria AH; Program in Medical and Population Genetics, Broad Institute of MIT &Harvard, Cambridge, Massachusetts, USA.
  • Karczewski K; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.
  • Ing AY; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London, London, UK.
  • Barton PJR; Analytic &Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Funke B; Program in Medical and Population Genetics, Broad Institute of MIT &Harvard, Cambridge, Massachusetts, USA.
  • Cook SA; Analytic &Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • MacArthur D; Program in Medical and Population Genetics, Broad Institute of MIT &Harvard, Cambridge, Massachusetts, USA.
  • Ware JS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Genet Med ; 19(10): 1151-1158, 2017 10.
Article em En | MEDLINE | ID: mdl-28518168
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Análise de Sequência de DNA Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Análise de Sequência de DNA Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article