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Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection

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...

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Bibliografische gegevens
Gepubliceerd in:Nat Methods
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4856034/
https://ncbi.nlm.nih.gov/pubmed/25984700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nmeth.3407
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