Top 6 copy-number-variation open source projects

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

Allele-specific copy number estimation with whole genome sequencing

ClassifyCNV: a tool for clinical annotation of copy-number variants

Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data

📦 Automate Absolute Copy Number Calling using 'ABSOLUTE' package

Single-cell copy number calling and event history reconstruction.