Guidelines for investigating causality of sequence variants in human disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-04-23

AUTHORS

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, R. B. Altman, S. E. Antonarakis, E. A. Ashley, J. C. Barrett, L. G. Biesecker, D. F. Conrad, G. M. Cooper, N. J. Cox, M. J. Daly, M. B. Gerstein, D. B. Goldstein, J. N. Hirschhorn, S. M. Leal, L. A. Pennacchio, J. A. Stamatoyannopoulos, S. R. Sunyaev, D. Valle, B. F. Voight, W. Winckler, C. Gunter

ABSTRACT

Acceleration in discovery of rare genetic variants possibly linked with disease may mean an increased risk of false-positive reports of causality; this Perspective proposes guidelines to distinguish disease-causing sequence variants from the many potentially functional variants in a human genome, and to assess confidence in their pathogenicity, and highlights priority areas for development. More... »

PAGES

469-476

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  • Journal

    TITLE

    Nature

    ISSUE

    7497

    VOLUME

    508

    Author Affiliations

  • Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 02142, Cambridge, Massachusetts, USA
  • Division of Genomic Medicine, National Human Genome Research Institute, 20892, Bethesda, Maryland, USA
  • Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, 53226, Milwaukee, Wisconsin, USA
  • Department of Pathology, Harvard Medical School, 02115, Boston, Massachusetts, USA
  • Department of Genome Sciences, University of Washington, 98115, Seattle, Washington, USA
  • Department of Biostatistics, University of Michigan, 48109, Ann Arbor, Michigan, USA
  • Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 20892, Bethesda, Maryland, USA
  • Departments of Bioengineering & Genetics, Stanford University, 94305, Stanford, California, USA
  • iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland
  • Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, 94305, Stanford, California, USA
  • Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
  • Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
  • Departments of Genetics, Pathology and Immunology, Washington University School of Medicine, 63110, St Louis, Missouri, USA
  • HudsonAlpha Institute for Biotechnology, 601 Genome Way, 35806, Huntsville, Alabama, USA
  • Department of Medicine, Section of Genetic Medicine, University of Chicago, 60637, Chicago, Illinois, USA
  • Departments of Computer Science, Molecular Biophysics and Biochemistry, Yale University, 06520, New Haven, Connecticut, USA
  • Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA
  • Divisions of Genetics and Endocrinology, Children’s Hospital, 02115, Boston, Massachusetts, USA
  • Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, Texas, USA
  • US Department of Energy Joint Genome Institute, 94598, Walnut Creek, California, USA
  • Department of Genome Sciences, University of Washington, 1705 Northeast Pacific Street, Seattle, Washington 98195, USA
  • Harvard Medical School, 02115, Boston, Massachusetts, USA
  • McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 21287, Baltimore, Maryland, USA
  • Department of Pharmacology and Department of Genetics, University of Pennsylvania Perelman School of Medicine, 19104, Philadelphia, Pennsylvania, USA
  • Present addresses: 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.).
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature13127

    DOI

    http://dx.doi.org/10.1038/nature13127

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002821806

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24759409


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