Literature DB >> 27930805

cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data.

David Jones1, Keiran M Raine1, Helen Davies1, Patrick S Tarpey1, Adam P Butler1, Jon W Teague1, Serena Nik-Zainal1, Peter J Campbell1.   

Abstract

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.
Copyright © 2016 John Wiley & Sons, Inc.

Entities:  

Keywords:  SNV; cancer; sequencing; somatic; substitution

Mesh:

Year:  2016        PMID: 27930805      PMCID: PMC6097605          DOI: 10.1002/cpbi.20

Source DB:  PubMed          Journal:  Curr Protoc Bioinformatics        ISSN: 1934-3396


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