Molecular Diagnostic Experience of Whole-Exome Sequencing in Clinical Laboratory

Advances in next-generation sequencing (NGS) technologies enabled us to identify genetic causes of many inherited diseases. The application of NGS in molecular diagnosis includes targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). While targeted gene panels include potentially relevant genes for specific diseases, WES includes protein coding genes in the entire human genome, attributable to ~85% of disease-causing variants. WES enables us to increase standardization, reanalysis of negative cases, and new gene discovery.
This session provides an overview of NGS approaches used for diagnosis of inherited diseases and describes our experience of WES using Agilent Exome V8 in our laboratory.