Implicating Sequence Variants in Human Disease

Implicating Sequence Variants in Human Disease

 

Implicating Sequence Variants in Human Disease

On September 12-13, 2012, the National Human Genome Research Institute (NHGRI), sponsored a workshop — Implicating Sequence Variants in Human Disease — at the Hyatt Regency Bethesda, in Bethesda, Md. Teri Manolio, M.D., Ph.D., NHGRI, and Daniel MacArthur, Ph.D., Massachusetts General Hospital, co-chaired the workshop. The goal of the workshop was to develop guidelines for investigators, reviewers and editors to consider in assessing the evidence implicating sequence variants or genes as causal in a specific disease.

Videos and some accompanying slides from the workshop