ClassifyCNV

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

What it does

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 usage

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

Connections

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