ClassifyCNV

Command-line tool calculating the pathogenicity of germline duplications and large deletions.

Key Info

• URL: https://github.com/Genotek/ClassifyCNV
• Category: CNV Analysis
• API: Yes
• Free: Free
• ACMG Relevance: ACMG 2019 (CNV)

Why It Matters

Fully automates the 2019 ACMG rubrics, providing a precise numeric pathogenicity score and categorization (Pathogenic, VUS, Benign).

How to Use

See https://github.com/Genotek/ClassifyCNV for documentation and access.

STRC Research Usage

PARTIAL — Successfully cloned from GitHub. Requires BEDTools dependency. Would automate ACMG 2019 CNV classification for the 98kb paternal deletion.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]