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Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Whiffin, Nicola; Roberts, Angharad M; Minikel, Eric; Zappala, Zach; Walsh, Roddy; O'Donnell-Luria, Anne H; Karczewski, Konrad J; Harrison, Steven M; Thomson, Kate L; Sage, Helen; Ing, Alexander Y; Barton, Paul J R; Funke, Birgit; Cook, Stuart A; MacArthur, Daniel G; Ware, James S.
Afiliación
  • Whiffin N; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
  • Roberts AM; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
  • Minikel E; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Zappala Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Walsh R; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
  • O'Donnell-Luria AH; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Harrison SM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Thomson KL; Oxford Medical Genetics Laboratory, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 7LJ, UK; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.
  • Sage H; Oxford Medical Genetics Laboratory, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 7LJ, UK.
  • Ing AY; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Barton PJR; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
  • Funke B; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Cook SA; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
  • MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Medicine, Harvard Medical School, Boston, MA
  • Ware JS; Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Servic
Am J Hum Genet ; 104(1): 187-190, 2019 01 03.
Article en En | MEDLINE | ID: mdl-30609406
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Genoma Tipo de estudio: Prevalence_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Genoma Tipo de estudio: Prevalence_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article