- RGT improves the accuracy of hereditary genetic testing via better detection and interpretation of variants.
- RNA data can be used as evidence both in support of pathogenicity and as clarification of benign variants.
- RGT is an especially powerful tool for classification in moderate penetrance genes, and in the identification of novel pathogenic variant
- Authors: Donald Basel; Carrie Horton; Rachid Karam; Holly LaDuca; Jessica Profato
- Collaborators: Medical College of Wisconsin
- Conference:
ACMG 2020
- Date: Wednesday, Mar 18, 2020 10:00am - 12:00pm
