tooluniverse-acmg-variant-classification
bymims-harvard· 57 skills
Systematic ACMG/AMP germline variant classification with all 28 criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) for clinical significance. Produces 5-tier verdict (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with cited evidence per criterion. Use for variant interpretation, VUS resolution, and pathogenicity assessment. Combines ClinVar, gnomAD, computational predictors, and gene-mechanism context.
How to install tooluniverse-acmg-variant-classification?
mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification
$npx -y skills add mims-harvard/tooluniverse --skill tooluniverse-acmg-variant-classificationInstalls into the current project.
›Prefer a prompt? Paste this to your agent
Run `npx skills use "https://github.com/mims-harvard/tooluniverse" --skill "mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification"` and follow the generated skill instructions now. Read its complete output, redirecting it to a temporary file first if necessary. Resolve relative paths from the supporting-files directory it provides.
Use the skills in "https://github.com/mims-harvard/tooluniverse" that are relevant to the current task. Run `npx skills add "https://github.com/mims-harvard/tooluniverse"` and select the relevant skills, then follow their instructions.
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