acmg-variant-classifier

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ACMG/AMP variant classification skill for systematic pathogenicity assessment

AI & Automation 814 stars 53 forks Updated today MIT

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Skill Content

# ACMG Variant Classifier Skill ## Purpose Enable ACMG/AMP variant classification for systematic pathogenicity assessment following clinical guidelines. ## Capabilities - Automated evidence criteria application - Population frequency filtering - In silico prediction integration - Literature evidence curation - Inheritance pattern analysis - Classification report generation ## Usage Guidelines - Apply ACMG criteria systematically - Document evidence for each criterion - Consider inheritance patterns in assessment - Review literature for supporting evidence - Generate clear classification reports - Track classification changes over time ## Dependencies - InterVar - VarSome API - ClinVar ## Process Integration - Clinical Variant Interpretation (clinical-variant-interpretation) - Rare Disease Diagnostic Pipeline (rare-disease-diagnostics) - Newborn Screening Genomics (newborn-screening-genomics)

Details

Author
a5c-ai
Repository
a5c-ai/babysitter
Created
4 months ago
Last Updated
today
Language
JavaScript
License
MIT

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