CNVkit: Genome-wide CNV from targeted DNA sequencing

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from targeted DNA sequencing data. It is designed for use with hybrid capture, including both WES and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

관련 논문

• CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing PLOS Computational Biology 2016-04-21

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