Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing.

ABSTRACT: Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors introduced at each step of next-generation sequencing (NGS). To date, no bulk sequencing study has addressed the effects of cross-site reproducibility, nor the biological, technical and computational factors that influence variant identification. Here we report a systematic interrogation of somatic mutations in paired tumor-normal cell lines to identify factors affecting detection reproducibility and accuracy at six different centers. Using whole-genome sequencing (WGS) and whole-exome sequencing (WES), we evaluated the reproducibility of different sample types with varying input amount and tumor purity, and multiple library construction protocols, followed by

SUBMITTER: Xiao W 

PROVIDER: S-EPMC8506910 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature