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cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data.
Jones, David; Raine, Keiran M; Davies, Helen; Tarpey, Patrick S; Butler, Adam P; Teague, Jon W; Nik-Zainal, Serena; Campbell, Peter J.
Afiliação
  • Jones D; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Raine KM; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Davies H; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Tarpey PS; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Butler AP; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Teague JW; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Nik-Zainal S; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Campbell PJ; Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
Curr Protoc Bioinformatics ; 56: 15.10.1-15.10.18, 2016 12 08.
Article em En | MEDLINE | ID: mdl-27930805
CaVEMan is an expectation maximization-based somatic substitution-detection algorithm that is written in C. The algorithm analyzes sequence data from a test sample, such as a tumor relative to a reference normal sample from the same patient and the reference genome. It performs a comparative analysis of the tumor and normal sample to derive a probabilistic estimate for putative somatic substitutions. When combined with a set of validated post-hoc filters, CaVEMan generates a set of somatic substitution calls with high recall and positive predictive value. Here we provide instructions for using a wrapper script called cgpCaVEManWrapper, which runs the CaVEMan algorithm and additional downstream post-hoc filters. We describe both a simple one-shot run of cgpCaVEManWrapper and a more in-depth implementation suited to large-scale compute farms. © 2016 by John Wiley & Sons, Inc.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Biologia Computacional / Neoplasias Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Biologia Computacional / Neoplasias Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article