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

22 Nov 2024

Abstract excerpt

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...

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PMID: 39828270
DOI: 10.1093/bib/bbae697

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