Guidelines for investigating causality of sequence variants in human disease
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
Nature (London), 2014-04, Vol.508 (7497), p.469-476 [Periódico revisado por pares]England: Nature Publishing Group
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