Reanalysis and Reclassification of Diagnostic Exome Sequencing

Explore the evolving landscape of diagnostic exome sequencing (DES) in this informative webinar presented by Ambry Genetics. Delve into the increasing diagnostic rates of DES for patients with Mendelian diseases and understand the importance of reaching a molecular diagnosis. Learn about the various reasons for DES reclassification reports, including reanalysis requests, bioinformatics pipeline upgrades, and variant reclassification. Discover how the discovery of new gene-disease relationships contributes significantly to improving DES diagnostic rates. Gain insights from Kelly Radtke, PhD, Manager of Rare Disease Scientists at Ambry Genetics, as she shares her team's experience in analyzing diagnostic exome variants, maintaining clinical validity databases, and reanalyzing previously reported exome cases. Understand the framework for evaluating clinical validity in laboratory settings and explore the latest advancements in genetic findings and methods for aiding genetic diagnosis.