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ToolUniverse workflow — Structural Variant Analysis

skills/structural-variant-analysis/SKILL.md

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---
name: tooluniverse-structural-variant-analysis
description: 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.
---

# Structural Variant Analysis Workflow

Systematic analysis of structural variants (deletions, duplications, inversions, translocations, complex rearrangements) for clinical genomics interpretation using ACMG-adapted criteria.

**KEY PRINCIPLES**:
1. **Report-first approach** - Create SV_analysis_report.md FIRST, then populate progressively
2. **ACMG-style classification** - Pathogenic/Likely Pathogenic/VUS/Likely Benign/Benign with explicit evidence
3. **Evidence grading** - Grade all findings by confidence level (★★★/★★☆/★☆☆)
4. **Dosage sensitivity critical** - Gene dosage effects drive SV pathogenicity
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