tooluniverse-structural-variant-analysis
•published 2026/03/13
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.
📦 Install Skill
Command line install
Install directly with the `skills` CLI.
npx skills add lilinji/GeneTind-Life-Skills/skills/tooluniverse-structural-variant-analysisLocal download
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