Evaluation of a Whole Genome Sequencing approach in a clinical context - ASHG 2025

Targeted panels have been instrumental in identifying small-scale genetic variants at reasonable cost but often lack the resolution and breadth to reliably detect breakpoints of larger variant classes such as copy number variants (CNVs). • With lower cost sequencing technology, it has become feasible to transition from multiple targeted panel-based testing workflows to a simpler whole genome sequencing (WGS) workflow. • In this study, we evaluate the transition to WGS as a comprehensive approach for detecting small and large clinically relevant genomic alterations with improved sensitivity and genomic coverage.