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)