Saturday, December 10, 2011

Fwd: SomaticSniper: Identification of Somatic Point Mutations in Whole Genome Sequencing Data

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SomaticSniper: Identification of Somatic Point Mutations in Whole Genome Sequencing Data:

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 to identify sites that are likely to be unique to one sample.

Results: In this paper, 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 or lding@wustl.edu

Supplementary Information: Supplementary information is available at Bioinformatics online.



(Original Post: Bioinformatics - Advance Access.)