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Article

SomaticCombiner: improving the performance of somatic variant calling based on evaluation tests and a consensus approach.

Scientific reports - 30 Jul 2020

Wang Mingyi, Luo Wen, Jones Kristine, Bian Xiaopeng, Williams Russell, Higson Herbert, Wu Dongjing, Hicks Belynda, Yeager Meredith, Zhu Bin

Abstract excerpt

It is challenging to identify somatic variants from high-throughput sequence reads due to tumor heterogeneity, sub-clonality, and sequencing artifacts. In this study, we evaluated the performance of eight primary somatic variant callers and multiple ensemble methods using both real and synthetic whole-genome sequencing, whole-exome sequencing, and deep targeted sequencing datasets with the NA12878 cell line. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32732891
DOI: 10.1038/s41598-020-69772-8
PMCID: PMC7393490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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