CopywriteR: DNA copy number detection from off-target sequence data

Clicks: 33
ID: 279236
2015
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Abstract
Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting 'off-target' sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools.
Reference Key
kuilman2015copywritergenome Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Kuilman, T.
Journal Genome biology
Year 2015
DOI
10.1186/s13059-015-0617-1
URL
Keywords Keywords not found

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