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Gene Characterization: A scientific approach to multi-gene panel testing design.

Date:
Wednesday, Sep 13, 2017 5:15pm – 6:30pm
Conference:
NSGC 2017
Authors:
Bess Wayburn, Brigette Tippin Davis, Brissa Martin, Devon Lamb Thrush, Erica Smith, Kelly Farwell Hagman, Melissa Para, Sourat Darabi, Tami Johnston, Tricia Zion
  • When designing MGPTs, a proper gene vetting process may improve detection rates
  • Rates of clinically significant findings of MGPTs tend to increase with inclusion of genes with higher clinical validity scores
  • VUS rates of MGPTs tend to increase with inclusion of genes with limited clinical validity without increasing the mutation rate
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