Individual skill

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.

skills/tooluniverse-structural-variant-analysis/SKILL.md

Source commit b1f9b6e3306f8d870e23b2023057bf730090036f

What was checked

Matches the observed repository HEAD

Yes

Scanner rules are current

Yes

Repository scan complete

No

Skill scan complete

No

Observed behavior

Network or broad shell

Last checked

Nov 2, 2026

These are observations at the recorded commit, not a guarantee of safety. Review the source before running it.

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