Guidelines for investigating causality of sequence variants in human disease

被引：0

作者：

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

机构：

[1] Analytic and Translational Genetics Unit,Division of Genomic Medicine

[2] Massachusetts General Hospital,Division of Genetics, Department of Pediatrics

[3] Program in Medical and Population Genetics,Department of Pathology

[4] Broad Institute of Harvard and MIT,Department of Genome Sciences

[5] National Human Genome Research Institute,Department of Biostatistics

[6] Medical College of Wisconsin,Departments of Bioengineering & Genetics

[7] Laboratory for Molecular Medicine,Department of Genetic Medicine

[8] Partners Healthcare Center for Personalized Genetic Medicine,Departments of Genetics

[9] Harvard Medical School,Department of Medicine

[10] University of Washington,Departments of Computer Science

[11] University of Michigan,Divisions of Genetics and Endocrinology

[12] NIH Undiagnosed Diseases Program,Department of Molecular and Human Genetics

[13] National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute,Genomics Division

[14] Office of the Clinical Director,Department of Genome Sciences

[15] National Human Genome Research Institute,Division of Genetics, Department of Medicine

[16] National Institutes of Health,Department of Pharmacology and Department of Genetics

[17] Stanford University,undefined

[18] University of Geneva Medical School,undefined

[19] 1211 Geneva,undefined

[20] Switzerland,undefined

[21] iGE3 Institute of Genetics and Genomics of Geneva,undefined

[22] 1211 Geneva,undefined

[23] Switzerland,undefined

[24] Center for Inherited Cardiovascular Disease,undefined

[25] Stanford University School of Medicine,undefined

[26] Wellcome Trust Sanger Institute,undefined

[27] Wellcome Trust Genome Campus,undefined

[28] Hinxton,undefined

[29] Cambridge CB10 1HH,undefined

[30] UK,undefined

[31] Genetic Disease Research Branch,undefined

[32] National Human Genome Research Institute,undefined

[33] NIH,undefined

[34] Bethesda,undefined

[35] Maryland 20892,undefined

[36] USA,undefined

[37] Pathology and Immunology,undefined

[38] Washington University School of Medicine,undefined

[39] HudsonAlpha Institute for Biotechnology,undefined

[40] 601 Genome Way,undefined

[41] Section of Genetic Medicine,undefined

[42] University of Chicago,undefined

[43] Program in Computational Biology and Bioinformatics,undefined

[44] Yale University,undefined

[45] Molecular Biophysics and Biochemistry,undefined

[46] Yale University,undefined

[47] Center for Human Genome Variation,undefined

[48] Duke University School of Medicine,undefined

[49] Durham,undefined

[50] North Carolina 27708,undefined

来源：

Nature | 2014年 / 508卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

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.

引用

页码：469 / 476

页数：7

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