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Hpo phenotype matcher

Skill a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher

Human Phenotype Ontology skill for phenotype-driven gene prioritizationFrom its SKILL.md

Install
npx -y skills add a5c-ai/babysitter --skill hpo-phenotype-matcher

Assembled from the repository path, not quoted from the project. Check it against their README if it does not work.

SKILL.md

1.4 KB, 163 tokens by cl100k_base, as published. Nobody here has run it

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)

What ships with it

Read from the repository

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

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