ReddRadar
Agent skill
hpo-phenotype-matcher
Human Phenotype Ontology skill for phenotype-driven gene prioritization
Install this agent skill to your Project
npx add-skill https://github.com/a5c-ai/babysitter/tree/main/library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher
Metadata
Additional technical details for this skill
- tags
-
clinical-genomics phenotype hpo prioritization
- version
- 1.0
- category
- bioinformatics
SKILL.md
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)
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