AI SummaryThe Variant Interpretation Skill automates the classification of genetic variants (Pathogenic, Benign, VUS) using a rules-based engine derived from ACMG guidelines. 1. Rule Scoring: Applies codes like PVS1 (Null variant), PM2 (Rare), PP3 (In silico). 2. Classification: Combines scores to reach a v
Install
Copy this and paste it into Claude Code, Cursor, or any AI assistant:
I want to install the "variant-interpretation-acmg" skill in my project. Please run this command in my terminal: # Install skill into your project (2 files) mkdir -p .claude/skills/variant-interpretation && curl --retry 3 --retry-delay 2 --retry-all-errors -o .claude/skills/variant-interpretation/SKILL.md "https://raw.githubusercontent.com/majiayu000/claude-skill-registry/main/skills/data/variant-interpretation/SKILL.md" && curl --retry 3 --retry-delay 2 --retry-all-errors -o .claude/skills/variant-interpretation/metadata.json "https://raw.githubusercontent.com/majiayu000/claude-skill-registry/main/skills/data/variant-interpretation/metadata.json" Then restart Claude Code (or reload the window in Cursor) so the skill is picked up.
Description
Classifies genetic variants according to ACMG (American College of Medical Genetics) guidelines.
Core Capabilities
• Rule Scoring: Applies codes like PVS1 (Null variant), PM2 (Rare), PP3 (In silico). • Classification: Combines scores to reach a verdict (Pathogenic, Likely Pathogenic, VUS, etc.). • Explanation: Provides the logic/evidence used for the classification.
Example Usage
User: "Classify a variant with evidence PVS1 and PM2." Agent Action: `bash python3 Skills/Genomics/Variant_Interpretation/acmg_classifier.py \ --evidence "PVS1,PM2" `
Variant Interpretation (ACMG)
The Variant Interpretation Skill automates the classification of genetic variants (Pathogenic, Benign, VUS) using a rules-based engine derived from ACMG guidelines.
When to Use This Skill
• When analyzing a VCF file for clinical reporting. • To determine the clinical significance of a specific mutation (e.g., BRCA1 c.123A>G). • To aggregate evidence (population freq, computational predictions) into a final verdict.
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