Article
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
BMC medical genetics - 14 Dec 2014
McLaughlin Heather M, Ceyhan-Birsoy Ozge, Christensen Kurt D, Kohane Isaac S, Krier Joel, Lane William J, Lautenbach Denise, Lebo Matthew S, Machini Kalotina, MacRae Calum A, Azzariti Danielle R, Murray Michael F, Seidman Christine E, Vassy Jason L, Green Robert C, Rehm Heidi L
Abstract excerpt
BACKGROUND: The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical relevance to physicians and patients participating in the MedSeq Project, we sought to develop a reporting approach for the effective communication of such findings. METHODS: Genome sequencing was...
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