Article
Guidelines for investigating causality of sequence variants in human disease.
Nature - 24 Apr 2014
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
Abstract excerpt
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive rep...
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