Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.

ABSTRACT: With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequenci

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC8578599 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature