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Guidelines for investigating causality of sequence variants in human disease.
MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; Shendure, J; Abecasis, G R; Adams, D R; Altman, R B; Antonarakis, S E; Ashley, E A; Barrett, J C; Biesecker, L G; Conrad, D F; Cooper, G M; Cox, N J; Daly, M J; Gerstein, M B; Goldstein, D B; Hirschhorn, J N; Leal, S M; Pennacchio, L A; Stamatoyannopoulos, J A; Sunyaev, S R; Valle, D; Voight, B F; Winckler, W; Gunter, C.
Afiliação
  • MacArthur DG; 1] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
  • Manolio TA; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.
  • Dimmock DP; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA.
  • Rehm HL; 1] Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts 02139, USA [2] Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, Washington 98115, USA.
  • Abecasis GR; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.
  • Adams DR; 1] NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland 20892, USA [2] Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Mary
  • Altman RB; Departments of Bioengineering & Genetics, Stanford University, Stanford, California 94305, USA.
  • Antonarakis SE; 1] Department of Genetic Medicine, University of Geneva Medical School, 1211 Geneva, Switzerland [2] iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland.
  • Ashley EA; Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, California 94305, USA.
  • Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK.
  • Biesecker LG; Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA.
  • Conrad DF; Departments of Genetics, Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806, USA.
  • Cox NJ; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA.
  • Daly MJ; 1] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
  • Gerstein MB; 1] Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA [2] Departments of Computer Science, Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.
  • Goldstein DB; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA.
  • Hirschhorn JN; 1] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA [2] Divisions of Genetics and Endocrinology, Children's Hospital, Boston, Massachusetts 02115, USA.
  • Leal SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Pennacchio LA; 1] Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA [2] US Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA.
  • Stamatoyannopoulos JA; Department of Genome Sciences, University of Washington, 1705 Northeast Pacific Street, Seattle, Washington 98195, USA.
  • Sunyaev SR; 1] Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA [2] Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
  • Voight BF; Department of Pharmacology and Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.
  • Winckler W; 1] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA [2] Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, USA (W.W.); Marcus Autism Center, Children's Healthcare of Atlanta, Atlanta,
  • Gunter C; 1] HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806, USA [2] Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, USA (W.W.); Marcus Autism Center, Children's Healthcare of Atlanta, Atlanta, Georgia 30329, USA (C.G.).
Nature ; 508(7497): 469-76, 2014 Apr 24.
Article em En | MEDLINE | ID: mdl-24759409
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doença / Guias como Assunto / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Guideline Limite: Humans Idioma: En Revista: Nature Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doença / Guias como Assunto / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Guideline Limite: Humans Idioma: En Revista: Nature Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos