Title
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
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.
Year
DOI
Venue
2012
10.1093/bioinformatics/btr665
BIOINFORMATICS
Field
DocType
Volume
Data mining,Point mutation,Computer science,Whole genome sequencing,Software,Genome human,Bioinformatics,Mac OS
Journal
28
Issue
ISSN
Citations 
3
1367-4803
41
PageRank 
References 
Authors
3.40
7
10
Name
Order
Citations
PageRank
David E. Larson111011.19
Christopher C. Harris2464.19
Ken Chen320921.57
Daniel C. Koboldt412512.00
Travis E. Abbott5605.25
David J. Dooling6654.80
Timothy J Ley7665.59
Elaine R. Mardis823923.34
Richard K. Wilson922818.84
Li Ding1016025.53