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tooluniverse-acmg-variant-classification

Systematic ACMG/AMP variant classification using ToolUniverse tools. Given a genetic variant (HGVS, rsID, or gene+change), applies all 28 ACMG criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) through automated database queries and computational predictions. Produces a final 5-tier classification (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with evidence summary. Use when asked to classify a variant, interpret a VUS, apply ACMG criteria, assess pathogenicity, or determine clinical significance of a germline variant.

mims-harvard
maintainer
mims-harvard
अपडेट किया गया 3/29/2026
स्टार
1240
फोर्क
191
quick start

Installation and usage

Systematic ACMG/AMP variant classification using ToolUniverse tools. Given a genetic variant (HGVS, rsID, or gene+change), applies all 28 ACMG criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) through automated database queries and computational predictions. Produces a final 5-tier classification (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with evidence summary. Use when asked to classify a variant, interpret a VUS, apply ACMG criteria, assess pathogenicity, or determine clinical significance of a germline variant.

इंस्टॉलेशन
$ install --globalskills.sh
उपयोग

इंस्टॉल करने के बाद, आप टर्मिनल में यह कमांड चलाकर इस स्किल का उपयोग कर सकते हैं:

skills use tooluniverse-acmg-variant-classification