Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection.

ABSTRACT:

Background

The phenotypes of cancer cells are driven in part by somatic structural variants. Structural variants can initiate tumors, enhance their aggressiveness, and provide unique therapeutic opportunities. Whole-genome sequencing of tumors can allow exhaustive identification of the specific structural variants present in an individual cancer, facilitating both clinical diagnostics and the discovery of novel mutagenic mechanisms. A plethora of somatic structural variant detection algorithms have been created to enable these discoveries; however, there are no systematic benchmarks of them. Rigorous performance evaluation of somatic structural variant detection methods has been challenged by the lack of gold standards, extensive resource requirements, and difficulties arising from

SUBMITTER: Lee AY 

PROVIDER: S-EPMC6219177 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature