title: SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  BACKGROUND
  delarson@wustl.edu; lding@wustl.edu
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: The Genome Institute, Washington University, St Louis, MO 63108, USA. delarson@wustl.edu
authors.forename: David E
authors.initials: DE
authors.lastname: Larson
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Harris
authors.forename: Ken
authors.initials: K
authors.lastname: Chen
authors.forename: Daniel C
authors.initials: DC
authors.lastname: Koboldt
authors.forename: Travis E
authors.initials: TE
authors.lastname: Abbott
authors.forename: David J
authors.initials: DJ
authors.lastname: Dooling
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Ley
authors.forename: Elaine R
authors.initials: ER
authors.lastname: Mardis
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
authors.forename: Li
authors.initials: L
authors.lastname: Ding
mesh_terms: D015894:Genome, Human; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D012984:Software