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)