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A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis

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Existing cancer benchmark data sets for human sequencing data use germline variants, synthetic methods, or expensive validations, none of which are satisfactory for providing a large collection of true somatic… Click to show full abstract

Existing cancer benchmark data sets for human sequencing data use germline variants, synthetic methods, or expensive validations, none of which are satisfactory for providing a large collection of true somatic variation across a whole genome. Here we propose a data set, Lineage derived Somatic Truth (LinST), of short somatic mutations in the HT115 colon cancer cell-line, that are validated using a known cell lineage that includes thousands of mutations and a high confidence region covering 2.7 gigabases per sample.

Keywords: derived somatic; lineage; lineage derived; somatic truth; cancer; data set

Journal Title: Communications Biology
Year Published: 2020

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