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A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis
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s42003-020-01460-9.pdf
Description
Published version
Size
1.96 MB
Format
Adobe PDF
Checksum (MD5)
1817e72756922f42e4b37912f740d377
Author(s) • • • • • • • •
Shand, Megan
Soto, Jose
Lichtenstein, Lee
Benjamin, David
Farjoun, Yossi
Brody, Yehuda
Maruvka, Yosef
Blainey, Paul C
Banks, Eric
Date Issued
December 2020
Journal
Communications Biology
Publisher
Springer Science and Business Media LLC
Citation
Shand, Megan, Soto, Jose, Lichtenstein, Lee, Benjamin, David, Farjoun, Yossi et al. 2020. "A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis." Communications Biology, 3 (1).
Version
Final published version
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.
MIT Department
Massachusetts Institute of Technology. Department of Biological Engineering
Koch Institute for Integrative Cancer Research at MIT
Terms of Use
Creative Commons Attribution 4.0 International license
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DOI of Published Version
10.1038/S42003-020-01460-9