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.
npx skills add BioTender-max/awesome-bio-agent-skills --skill tooluniverse-structural-variant-analysis --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
# 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 5. **Breakpoint precision matters** - Exact gene disruption vs dosage-only effects 6. **Population context essential** - gnomAD SVs for frequency assessment 7. **English-first queries** - Always use English terms in tool calls (gene names, disease names), even if the user writes in another language. Only try original-language terms as a fallback. Respond in the user's language --- ## Problem This Skill Solves Structural variants (SVs) present unique interpretation challenges: 1. **Complex molecular consequences** - SVs can cause gene dosage changes, gene disruption, gene fusions, p
- Problem This Skill Solves
- Triggers
- Workflow Overview
- Phase Details
- Phase 1: SV Identity & Classification
- Phase 2: Gene Content Analysis
- Phase 3: Dosage Sensitivity Assessment
- Phase 4: Population Frequency Context
- Phase 5: Pathogenicity Scoring
- Phase 6: Literature & Clinical Evidence
- Phase 7: ACMG-Adapted Classification
- Pathogenic Evidence Codes
- Benign Evidence Codes
- Output Structure
What does the tooluniverse-structural-variant-analysis skill do?
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.
How do I install it?
Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill tooluniverse-structural-variant-analysis --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From BioTender-max/awesome-bio-agent-skills, a repository with 135 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.