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hpo-phenotype-matcher

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Human Phenotype Ontology skill for phenotype-driven gene prioritization

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How to use this skill

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Source SKILL.md: https://github.com/a5c-ai/babysitter/blob/HEAD/library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher/SKILL.md

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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)