Tooluniverse Variant Interpretation

This is a comprehensive clinical genomics workflow that takes you from raw variant calls to ACMG-classified pathogenicity reports with structural context. It orchestrates 40+ bioinformatics tools (ClinVar, gnomAD, AlphaFold2, CADD, SpliceAI, CIViC) through a six-phase pipeline: variant normalization, database lookup, computational prediction, structural analysis, literature review, and final ACMG classification. The workflow is opinionated about looking things up rather than guessing, uses MANE Select transcripts by default, and includes regulatory context for non-coding variants. Built for molecular tumor boards and return-of-results reporting where you need defensible evidence codes, not just a score.

Install to Claude Code

npx -y skills add mims-harvard/tooluniverse --skill tooluniverse-variant-interpretation --agent claude-code