Characterizing and Displaying Genetic Variants for Clinical Action

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Characterizing and Displaying Genetic Variants for Clinical Action Workshop

December 1-2, 2011
Marriott Washingtonian Center I
Gaithersburg, Md.

Blue and white stick figure labeled genetic variants aiming a bow and arrow at clinical action database 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.

The workshop addressed topics such as:
  • 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.

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    Last Updated: November 9, 2012