作者
Adam D Ewing, Kathleen E Houlahan, Yin Hu, Kyle Ellrott, Cristian Caloian, Takafumi N Yamaguchi, J Christopher Bare, Christine P'ng, Daryl Waggott, Veronica Y Sabelnykova, Michael R Kellen, Thea C Norman, David Haussler, Stephen H Friend, Gustavo Stolovitzky, Adam A Margolin, Joshua M Stuart, Paul C Boutros
发表日期
2015/7
期刊
Nature methods
卷号
12
期号
7
页码范围
623-630
出版商
Nature Publishing Group US
简介
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 ICGC-TCGA DREAM Somatic Mutation Calling Challenge, a crowdsourced benchmark of somatic mutation detection algorithms. Here we report the BAMSurgeon tool for simulating cancer genomes and the results of 248 analyses of three in silico tumors created with it. Different algorithms exhibit characteristic error profiles, and, intriguingly, false positives show a trinucleotide profile very similar to one found in human tumors. Although the three simulated tumors differ in sequence contamination …
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