Journal article
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
Abstract
The first report of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge introduces the BAMSurgeon tool for accurate tumor simulation and reports the performance of 248 submissions in calling single-nucleotide variants from three pairs of synthetic tumor–normal genome benchmarks.
Authors
Ewing AD; Houlahan KE; Hu Y; Ellrott K; Caloian C; Yamaguchi TN; Bare JC; P'ng C; Waggott D; Sabelnykova VY
Journal
Nature Methods, Vol. 12, No. 7, pp. 623–630
Publisher
Springer Nature
Publication Date
7 2015
DOI
10.1038/nmeth.3407
ISSN
1548-7091