Author:
Ferguson Stephanie,Sriram Shruthi,Wallace Jonathan Kyle,Lee Jeonghoon,Kim Jung-Ah,Lee Yoonsuh,Oh Brian Baek-Lok,Lee Won Chul,Lee Sangmoon,Connolly-Strong Erin
Abstract
AbstractObjectiveTo evaluate the analytical and clinical performance of the targeted enhanced whole-genome sequencing (TE-WGS) assay for comprehensive genomic profiling in oncology.MethodsAnalytical validation of the TE-WGS assay focused on sensitivity and specificity for single nucleotide variants (SNVs), insertions and deletions (indels), and structural variants (SVs). Clinical performance was benchmarked against established orthogonal methods for somatic variant detection.ResultsAnalytical validation revealed a sensitivity of 99.8% for SNVs and 98.7% for indels. The positive predictive value (PPV) was 99.3% for SNVs and 98.7% for indels. Clinical validation demonstrated high concordance with reference methods in variant characterization.ConclusionThe TE-WGS assay is a clinically valuable tool, providing precise and validated comprehensive genomic profiling that enhances personalized cancer management strategies, with the flexibility to integrate new oncological markers.
Publisher
Cold Spring Harbor Laboratory