A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing.

ABSTRACT: By identifying somatic mutations, whole-exome sequencing (WES) has become a technology of choice for the diagnosis and guiding treatment decisions in many cancers. Despite advances in the field of somatic variant detection and the emergence of sophisticated tools incorporating machine learning, accurately identifying somatic variants remains challenging. Each new somatic variant caller is often accompanied by claims of superior performance compared to predecessors. Furthermore, most comparative studies focus on a limited set of tools and reference datasets, leading to inconsistent results and making it difficult for laboratories to select the optimal solution. Our study comprehensively evaluated 20 somatic variant callers across four reference WES datasets. We subsequently assessed the per

SUBMITTER: Guille A 

PROVIDER: S-EPMC11790059 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature