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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

June 30, 2015

DOI

10.1038/nmeth.3407

ISSN

1548-7091

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