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NIH

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.

 

Last Updated: March 1, 2017