2015 Genome informatics: CNVThresher: Combining multiple lines of evidence to construct high-quality CNV call sets

We present CNVThresher, a tool that annotates CNV detec3ons in WGS data with metrics designed to reflect the level of evidence present in the aligned reads, in support of each CNV call. The tool examines the pileup of aligned reads in the vicinity of the call, and looks for several features that are expected for real CNVs