Agent-Skills.md

Agent Skills: ACMG Variant Classifier Skill

ACMG/AMP variant classification skill for systematic pathogenicity assessment

bioinformaticsID: a5c-ai/babysitter/acmg-variant-classifier

Repository

a5c-ai/babysitter
a5c-aiLicense: MIT
244

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pnpm dlx add-skill https://github.com/a5c-ai/babysitter/tree/HEAD/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier

Skill Files

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library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier/SKILL.md

Skill Metadata

Name
acmg-variant-classifier
Description
ACMG/AMP variant classification skill for systematic pathogenicity assessment

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)