Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling test.

Abstract

Evaluation of the test performance of the targeted enhanced whole-genome sequencing (TE-WGS) assay for comprehensive oncology genomic profiling. The analytical validation of the assay included sensitivity and specificity for single nucleotide variants (SNVs), insertions/deletions (indels), and structural variants (SVs), revealing a revealed a sensitivity of 99.8% for SNVs and 99.2% for indels. The PPV was 99.3% for SNVs and 98.7% for indels. Clinical validation was benchmarked against established orthogonal methods and demonstrated high concordance with reference methods in variant characterization. The TE-WGS assay enhances personalized cancer treatment by offering detailed genomic insights and the adaptability to include emerging biomarkers.