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Commun Biol DOI:10.1038/s42003-020-01460-9

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

Publication TypeJournal Article
Year of Publication2020
AuthorsShand, M, Soto, J, Lichtenstein, L, Benjamin, D, Farjoun, Y, Brody, Y, Maruvka, Y, Blainey, PC, Banks, E
JournalCommun Biol
Volume3
Issue1
Pages744
Date Published2020 Dec 08
ISSN2399-3642
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.

DOI10.1038/s42003-020-01460-9
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/33293579?dopt=Abstract

Alternate JournalCommun Biol
PubMed ID33293579
PubMed Central IDPMC7722876