Journal article
Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection
Abstract
BackgroundThe 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 …
Authors
Lee AY; Ewing AD; Ellrott K; Hu Y; Houlahan KE; Bare JC; Espiritu SMG; Huang V; Dang K; Chong Z
Journal
Genome Biology, Vol. 19, No. 1,
Publisher
Springer Nature
Publication Date
12 2018
DOI
10.1186/s13059-018-1539-5
ISSN
1474-760X