hpo-phenotype-matcher

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Human Phenotype Ontology skill for phenotype-driven gene prioritization

AI & Automation 814 stars 53 forks Updated today MIT

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Skill Content

# 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)

Details

Author
a5c-ai
Repository
a5c-ai/babysitter
Created
4 months ago
Last Updated
today
Language
JavaScript
License
MIT

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