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RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing

Date:
Wednesday, Sep 18, 2024 5:45pm – 7:00pm
Conference:
NSGC 2024
Authors:
Catherine Schultz, Jessica Gage, Heather Zimmermann, Jessica Grzybowski, Meghan C. Towne, Brooklynn Gasser, Dean Hoffer, Carolyn Horton

Presenting Authors: Jessica Grzybowski, MS, CGC & Catherine Schultz, MS, CGC

Take home points: 

  1. RNA studies could clarify 3.5% of reported ES VUS.
  2. 87.5% of RNA-tested VUS were able to be recalssifed.
Abstract Poster