sk Skill · ClawBio
cnv-acmg-classifier
Classify structural variants / copy-number variants (deletions and duplications) using the ClinGen / ACMG 2019 (Riggs et al. 2020) point framework and return a five-tier classification with a per-section evidence trail. Germline CNV interpretation, not SNV/indel.
Open on skills.sh ↗read 2026-09-18
- installs 8w
- 0
- 30-day movement
- starts with the next reading
- Related entries
- 1
- Connections
- 0
markdownbashPythondosage-sensitivityclingenacmgstructural-variantcnv
- Host repository
- ClawBio/ClawBio
- Version
- 0.1.0
- Licence
- MIT
- Host stars
- 1,140
- Host language
- Python