Article
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection.
Nature methods - 1 Jul 2015
Ewing Adam D, Houlahan Kathleen E, Hu Yin, Ellrott Kyle, Caloian Cristian, Yamaguchi Takafumi N, Bare J Christopher, P'ng Christine, Waggott Daryl, Sabelnykova Veronica Y, Kellen Michael R, Norman Thea C, Haussler David, Friend Stephen H, Stolovitzky Gustavo, Margolin Adam A, Stuart Joshua M, Boutros Paul C
Abstract excerpt
The detection of somatic mutations from cancer genome sequences is key to understanding the genetic basis of disease progression, patient survival and response to therapy. Benchmarking is needed for tool assessment and improvement but is complicated by a lack of gold standards, by extensive resource requirements and by difficulties in sharing personal genomic information. To resolve these issues, we launched the...
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