CopySeq is a novel computational approach with an underlying statistical framework that analyzes the depth-of-coverage of high-throughput DNA sequencing reads, and can integrate paired-end and breakpoint junction analysis based CNV-analysis approaches, to infer locus copy-number genotypes.
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Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, et al. (2010)
Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity.
PLoS Comput Biol 6(11): e1000988.