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Clinical Validity Scoring Guides Updates to Expanded Secondary Findings; Comparison with BabySeq Scores.

Session:
#48
Date:
Thursday, Jun 29, 2017 12:00pm – 12:00pm
Conference:
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Authors:
Erica Smith, Kelly Radtke, Brigette Tippin Davis, Sha Tang, Ruth Baxter, Zöe Powis, Dima El-Khechen, Melissa Para, Layla Shahmirzadi, Kelly Farwell Hagman
  • Evidence-based clinical validity analysis can help select genes for screening panels targeting various populations, from sick newborns to healthy adults.
  • Clinical validity scores for matching gene-disease pairs showed high concordance (64% exact match) despite different curators and scoring systems.
  • Periodic clinical validity review of genes on panel is essential to stay accurate; both Ambry and BabySeq prioritize characterized genes.
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