Somaticsniper: Identification of somatic point mutations in whole genome sequencing data

David E. Larson, Christopher C. Harris, Ken Chen, Daniel C. Koboldt, Travis E. Abbott, David J. Dooling, Timothy J. Ley, Elaine R. Mardis, Richard K. Wilson, Li Ding

Research output: Contribution to journalArticle

302 Scopus citations

Abstract

Motivation: The sequencing of tumors and their matched normals is frequently used to study the genetic composition of cancer. Despite this fact, there remains a dearth of available software tools designed to compare sequences in pairs of samples and identify sites that are likely to be unique to one sample.Results: In this article, we describe the mathematical basis of our SomaticSniper software for comparing tumor and normal pairs. We estimate its sensitivity and precision, and present several common sources of error resulting in miscalls.

Original languageEnglish
Article numberbtr665
Pages (from-to)311-317
Number of pages7
JournalBioinformatics
Volume28
Issue number3
DOIs
StatePublished - Feb 1 2012

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    Larson, D. E., Harris, C. C., Chen, K., Koboldt, D. C., Abbott, T. E., Dooling, D. J., Ley, T. J., Mardis, E. R., Wilson, R. K., & Ding, L. (2012). Somaticsniper: Identification of somatic point mutations in whole genome sequencing data. Bioinformatics, 28(3), 311-317. [btr665]. https://doi.org/10.1093/bioinformatics/btr665