Data Science & Analytics
Tooluniverse Structural Variant Analysis
Comprehensive structural variant (SV) analysis skill for clinical genomics. Classifies SVs (deletions, duplications, inversions, translocations), assesses pathogenicity using ACMG-adapted criteria, evaluates gene disruption and dosage sensitivity, and provides clinical interpretation with evidence grading. Use when analyzing CNVs, large deletions/duplications, chromosomal rearrangements, or any structural variants requiring clinical interpretation.
- Publisher / source
- FreedomIntelligence/OpenClaw-Medical-Skills (found on GitHub top repositories)
- Upstream record
- FreedomIntelligence/OpenClaw-Medical-Skills
- Version
- Version 1
- Published
- Publication review
- Approved for publication · recorded passed scan 2026-11-06
- Content fingerprint
fb17ce5ad2f97a8cd95038b7ef89533c1b7d73ad29391c5b5d7003fbcecac74b