ReddRadar
Agent skill
acmg-variant-classifier
ACMG/AMP variant classification skill for systematic pathogenicity assessment
Install this agent skill to your Project
npx add-skill https://github.com/a5c-ai/babysitter/tree/main/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier
Metadata
Additional technical details for this skill
- tags
-
variant-analysis acmg clinical pathogenicity
- version
- 1.0
- category
- bioinformatics
SKILL.md
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)
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