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

Authors :
Massachusetts Institute of Technology. Department of Biological Engineering
Koch Institute for Integrative Cancer Research at MIT
Shand, Megan
Soto, Jose
Lichtenstein, Lee
Benjamin, David
Farjoun, Yossi
Brody, Yehuda
Maruvka, Yosef
Blainey, Paul C.
Banks, Eric
Massachusetts Institute of Technology. Department of Biological Engineering
Koch Institute for Integrative Cancer Research at MIT
Shand, Megan
Soto, Jose
Lichtenstein, Lee
Benjamin, David
Farjoun, Yossi
Brody, Yehuda
Maruvka, Yosef
Blainey, Paul C.
Banks, Eric
Source :
Nature
Publication Year :
2022

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.

Details

Database :
OAIster
Journal :
Nature
Notes :
application/octet-stream, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1342475616
Document Type :
Electronic Resource