ACMG Variant Classifier Skill
SkillDev toolsACMG/AMP variant classification skill for systematic pathogenicity assessment
Instructions available. Your AI can read the instructions. Execution depends on the setup they require.
Account requirements not reviewed. Check the skill instructions before use; ahel provides instructions and does not run this skill.
Add ahel to your AI once: Claude, ChatGPT, Cursor, Claude Code or Codex. Then ask it to use this.
Then ask your AI: use the ACMG Variant Classifier Skill skill
What this skill tells your AI
The instructions your AI receives, as published by a5c-ai/babysitter in library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier/SKILL.md and read by ahel’s review.
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)
Signals
- GitHub stars
- 2k
- Forks
- 112
- Last commit
- Sep 2026
Advanced
- Item type
- skill
- Key
acmg-variant-classifier- Source
- github.com/a5c-ai/babysitter
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