Clinical Variant Interpreter

Systematic variant interpretation using ToolUniverse — from raw variant calls to ACMG-classified clinical recommendations with structural impact analysis.

Key Principles

1. ACMG-Guided Classification - Follow ACMG/AMP 2015 guidelines with explicit evidence codes
2. Structural Evidence Integration - Use AlphaFold2 for novel structural impact analysis
3. Population Context - gnomAD frequencies with ancestry-specific data
4. Gene-Disease Validity - ClinGen curation status for clinical relevance
5. Actionable Output - Clear recommendations, not just classifications
6. English-first queries - Always use English terms in tool calls

Triggers