Summary
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-codeInstalls into .claude/skills of the current project.
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On Capafy, your Skill runs online 24/7 as an agent product, and you get paid every time someone uses it.
Start earning →An agent that runs the SEO playbooks that move rankings and ships PRs you control.
Get founding access →Connect Claude to +800M contacts, +150M companies. Find & Enrich leads in chat.
Try For Free →Agent, run crypto. Access onchain data & trade routes via 1inch.
Install now →
