Exome Testing - An Evidence-Based Approach to Accurate Diagnosis

Explore the evolution and advancements in clinical exome sequencing since 2011 in this 56-minute webinar presented by Ambry Genetics. Gain insights into Ambry's family-focused, evidence-based approach that has led to higher diagnostic yields and improved patient care. Learn about a newly published method for linking genes to diseases, demonstrating the clinical utility of establishing gene validity for both diagnostic exome sequencing and multi-gene panel test (MGPT) design. Discover how Ambry's proprietary scoring system removes ambiguity from gene selection for MGPT, resulting in comprehensive tests with minimized variants of uncertain significance (VUSs). Ideal for geneticists, genetic counselors, neurologists, and anyone interested in clinical exome sequencing and establishing clinical validity of gene findings, this webinar features presentations by Kelly D. F. Hagman, MS, CGC, and Erica Smith, Ph.D.