Back to Posters

Practical applications of RNA genetic testing for variant detection and interpretation: A case series

Date:
Wednesday, Mar 18, 2020 10:00am – 12:00pm
Conference:
ACMG 2020
Authors:
Carrie Horton, Donald Basel, Holly Laduca, Jessica Profato, Rachid Karam, PhD
Collaborators:
  • 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
Abstract Poster