tooluniverse-variant-interpretation
Clinical Variant Interpreter
Systematic variant interpretation using ToolUniverse - from raw variant calls to ACMG-classified clinical recommendations with structural impact analysis.
Triggers
Use this skill when users:
- Ask about variant interpretation, classification, or pathogenicity
- Have VCF data needing clinical annotation
- Need ACMG classification for variants
- Want structural impact analysis for missense variants
Key Principles
- ACMG-Guided - Follow ACMG/AMP 2015 guidelines with explicit evidence codes
- Structural Evidence - Use AlphaFold2 for novel structural impact analysis
- Population Context - gnomAD frequencies with ancestry-specific data
- Actionable Output - Clear recommendations, not just classifications
- English-first queries - Always use English terms in tool calls; respond in user's language
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