OpenSkillIndex← back to search
claude-codescience

Babysitter hpo-phenotype-matcher

Human Phenotype Ontology skill for phenotype-driven gene prioritization

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 "$T/library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher" ~/.claude/skills/a5c-ai-babysitter-hpo-phenotype-matcher && rm -rf "$T"
manifest: library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher/SKILL.md
tags
#clinical-genomics#phenotype#hpo#prioritization#gene-association
source content

HPO Phenotype Matcher Skill

Purpose

Provide Human Phenotype Ontology capabilities for phenotype-driven gene prioritization.

Capabilities

  • HPO term matching
  • Gene-phenotype association scoring
  • Semantic similarity analysis
  • Phenotype-variant correlation
  • Exomiser integration
  • Prioritization reporting

Usage Guidelines

  • Map clinical phenotypes to HPO terms
  • Calculate gene-phenotype associations
  • Use semantic similarity for ranking
  • Integrate with variant prioritization
  • Generate prioritization reports
  • Document phenotype encoding

Dependencies

  • HPO
  • Exomiser
  • Phen2Gene

Process Integration

  • Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
  • Clinical Variant Interpretation (clinical-variant-interpretation)