Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing

Genome sequencing is a commonly used platform for genetic disease research; however, most clinical laboratories use enrichment-based targeted sequencing for diagnostic panels and exome testing. To facilitate the implementation of clinical genome-based panel testing, short-read genome sequencing (≥40×) was subjected to analytical validation, including single-nucleotide variant (SNV), insertion/deletion (indel), and copy number variant (CNV) accuracy and reproducibility/repeatability, and specimen types (blood, saliva, and assisted saliva).