tooluniverse-structural-variant-analysis
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:
- Report-first approach - Create SV_analysis_report.md FIRST, then populate progressively
- ACMG-style classification - Pathogenic/Likely Pathogenic/VUS/Likely Benign/Benign with explicit evidence
- Evidence grading - Grade all findings by confidence level (★★★/★★☆/★☆☆)
- Dosage sensitivity critical - Gene dosage effects drive SV pathogenicity
- Breakpoint precision matters - Exact gene disruption vs dosage-only effects
- Population context essential - gnomAD SVs for frequency assessment
- 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:
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