Guidelines for investigating causality of sequence variants in human disease

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 and C. Gunter ()
Additional contact information
D. G. MacArthur: Analytic and Translational Genetics Unit, Massachusetts General Hospital
T. A. Manolio: National Human Genome Research Institute
D. P. Dimmock: Medical College of Wisconsin
H. L. Rehm: Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine
J. Shendure: University of Washington
G. R. Abecasis: University of Michigan
D. R. Adams: NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute
R. B. Altman: Stanford University
S. E. Antonarakis: University of Geneva Medical School, 1211 Geneva, Switzerland
E. A. Ashley: Center for Inherited Cardiovascular Disease, Stanford University School of Medicine
J. C. Barrett: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
L. G. Biesecker: Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
D. F. Conrad: Pathology and Immunology, Washington University School of Medicine
G. M. Cooper: HudsonAlpha Institute for Biotechnology, 601 Genome Way
N. J. Cox: Section of Genetic Medicine, University of Chicago
M. J. Daly: Analytic and Translational Genetics Unit, Massachusetts General Hospital
M. B. Gerstein: Program in Computational Biology and Bioinformatics, Yale University
D. B. Goldstein: Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA
J. N. Hirschhorn: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
S. M. Leal: Baylor College of Medicine
L. A. Pennacchio: MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
J. A. Stamatoyannopoulos: University of Washington, 1705 Northeast Pacific Street, Seattle, Washington 98195, USA
S. R. Sunyaev: Brigham and Women’s Hospital
D. Valle: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
B. F. Voight: University of Pennsylvania Perelman School of Medicine
W. Winckler: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
C. Gunter: HudsonAlpha Institute for Biotechnology, 601 Genome Way

Nature, 2014, vol. 508, issue 7497, 469-476

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.

Date: 2014
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DOI: 10.1038/nature13127

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