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



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