Guidelines for investigating causality of sequence variants in human disease.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C
Nature. 2014 508 (7497): 469-76

PMID: 24759409 · PMCID: PMC4180223 · DOI:10.1038/nature13127

MeSH Terms (12)

Disease False Positive Reactions Genes Genetic Predisposition to Disease Genetic Variation Guidelines as Topic Humans Information Dissemination Publishing Reproducibility of Results Research Design Translational Medical Research

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