Exome & General Genetics
Session # GGT251
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing
Presenting Authors: Jessica Grzybowski, MS, CGC & Catherine Schultz, MS, CGC
Take home points:
- RNA studies could clarify 3.5% of reported ES VUS.
- 87.5% of RNA-tested VUS were able to be recalssifed.
- Authors: Catherine Schultz; Meghan C. Towne; Brooklynn Gasser; Dean Hoffer; Jessica Gage; Carolyn Horton; Heather Zimmermann; Jessica Grzybowski
- Conference: NSGC 2024
- Date: Wednesday, Sep 18, 2024 5:45pm - 7:00pm