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Acmg variant classifier

Skill a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier

ACMG/AMP variant classification skill for systematic pathogenicity assessmentFrom its SKILL.md

Install
npx -y skills add a5c-ai/babysitter --skill acmg-variant-classifier

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SKILL.md

1.5 KB, 172 tokens by cl100k_base, as published. Nobody here has run it

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)

What ships with it

Read from the repository

Just SKILL.md. No reference files, no scripts.

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