Validation of RNA Genetic Testing for Use in a Clinical Diagnostic Setting - Ambry Genetics
Explore the validation of RNA genetic testing for clinical diagnostic applications in this 45-minute webinar presented by Ambry Genetics. Delve into the advancements in genetic testing, focusing on the molecular biology of RNA splicing and its role in providing functional information. Learn about a targeted and scalable approach to RNA genetic testing in 18 tumor suppressor genes, and examine the results from a pilot cohort that demonstrated an increase in diagnostic yield. Gain insights through case studies illustrating how RNA contributes to improved diagnostics. Presented by Tyler Landrith, PhD, and moderated by Tara Namey, MS, LCGC, this webinar covers topics such as mRNA processing, alternative splicing, considerations for whole transcriptome sequencing, and the clinical utility of RNA genetic testing. Discover how RNA genetic testing complements DNA-based testing and its potential to identify variants missed by traditional methods.