Dataset Information
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
Ontology highlight
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.Availability and implementation
Binaries are freely available for download at http://gmt.genome.wustl.edu/somatic-sniper/current/, implemented in C and supported on Linux and Mac OS X.Contact
delarson@wustl.edu; lding@wustl.eduSupplementary information
Supplementary data are available at Bioinformatics online.
SUBMITTER: Larson DE
PROVIDER: S-EPMC3268238 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Publications
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
Bioinformatics (Oxford, England) 20111206 3
<h4>Motivation</h4>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.<h4>Results</h4>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 pr ...[more]