Practical Applications Of RNA Genetic Testing For Variant Detection And Interpretation: A Case Series

  • 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: Annual Clinical Genetics Meeting (ACMG) 2020
  • Date: Wednesday, Mar 18, 2020 10:00am - 12:00pm

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