Custom workflows to improve joint variant calling from multiple related tumour samples: FreeBayesSomatic and Strelka2Pass

BIOINFORMATICS(2021)

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摘要
This work describes two novel workflows for variant calling that extend the widely used algorithms of Strelka2 and FreeBayes to call somatic mutations from multiple related tumour samples and one matched normal sample. We show that these workflows offer higher precision and recall than their single tumour-normal pair equivalents in both simulated and clinical sequencing data. Supplementary information: Supplementary data are available at Bioinformatics online.
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关键词
multiple related tumour samples,joint variant,strelka2pass
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