On Dec. 1-2, 2011, the National Human Genome Research Institute (NHGRI), organized a workshop — Characterizing and Displaying Genetic Variants for Clinical Action Workshop — at the Marriott Washingtonian Center I, Gaithersburg, Md. The goal of the workshop was to consider the processes and resources needed to identify clinically relevant genetic variants; to decide whether they are actionable and what the action should be; and to provide this information for clinical use.
Perspectives on Existing Genetic Variation Resources Current Approaches for Identifying Genetic Variants for Clinical Use Developing Consensus for Binning Variants for Clinical Use Creating a Translation Loop for Genomic Medicine Translating Actionable Variants into Evidence-Based Practice
The agenda with associated PowerPoint presentations and videos from the workshop are linked below.
Last Updated: November 9, 2012