hpo-phenotype-matcher
// Human Phenotype Ontology skill for phenotype-driven gene prioritization
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updated:March 4, 2026
SKILL.mdreadonly
SKILL.md Frontmatter
namehpo-phenotype-matcher
descriptionHuman Phenotype Ontology skill for phenotype-driven gene prioritization
allowed-toolsRead,Write,Glob,Grep,Edit,WebFetch,WebSearch,Bash
metadata[object Object]
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)