Babysitter acmg-variant-classifier

ACMG/AMP variant classification skill for systematic pathogenicity assessment

install
source · Clone the upstream repo
git clone https://github.com/a5c-ai/babysitter
Claude Code · Install into ~/.claude/skills/
T=$(mktemp -d) && git clone --depth=1 https://github.com/a5c-ai/babysitter "$T" && mkdir -p ~/.claude/skills && cp -r "$T/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier" ~/.claude/skills/a5c-ai-babysitter-acmg-variant-classifier && rm -rf "$T"
manifest: library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier/SKILL.md
source 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)