Guidelines for investigating causality of sequence variants in human disease

  title={Guidelines for investigating causality of sequence variants in human disease},
  author={Daniel G. MacArthur and Teri Manolio and David P Dimmock and Heidi L. Rehm and Jay Shendure and Gonçalo R. Abecasis and David R Adams and Russ B. Altman and Stylianos E. Antonarakis and Euan A. Ashley and Jeffrey C. Barrett and Leslie G. Biesecker and Donald F. Conrad and Greg M Cooper and Nancy J. Cox and Mark J. Daly and Mark B Gerstein and David K. Goldstein and Joel Hirschhorn and Suzanne M. Leal and Len A. Pennacchio and John A. Stamatoyannopoulos and Shamir Sunyaev and David Valle and Benjamin F. Voight and Wendy Winckler and Chris Gunter},
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 reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges… CONTINUE READING
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