hpo-phenotype-matcher

Human Phenotype Ontology skill for phenotype-driven gene prioritization

509 stars

Best use case

hpo-phenotype-matcher is best used when you need a repeatable AI agent workflow instead of a one-off prompt.

Human Phenotype Ontology skill for phenotype-driven gene prioritization

Teams using hpo-phenotype-matcher should expect a more consistent output, faster repeated execution, less prompt rewriting.

When to use this skill

You want a reusable workflow that can be run more than once with consistent structure.

When not to use this skill

You only need a quick one-off answer and do not need a reusable workflow.
You cannot install or maintain the underlying files, dependencies, or repository context.

Installation

Claude Code / Cursor / Codex

$curl -o ~/.claude/skills/hpo-phenotype-matcher/SKILL.md --create-dirs "https://raw.githubusercontent.com/a5c-ai/babysitter/main/library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher/SKILL.md"

Manual Installation

Download SKILL.md from GitHub
Place it in .claude/skills/hpo-phenotype-matcher/SKILL.md inside your project
Restart your AI agent — it will auto-discover the skill

How hpo-phenotype-matcher Compares

Feature / Agent	hpo-phenotype-matcher	Standard Approach
Platform Support	Not specified	Limited / Varies
Context Awareness	High	Baseline
Installation Complexity	Unknown	N/A

Frequently Asked Questions

What does this skill do?

Human Phenotype Ontology skill for phenotype-driven gene prioritization

Where can I find the source code?

You can find the source code on GitHub using the link provided at the top of the page.

SKILL.md Source

# 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)

Related Skills

network-matcher

509

from a5c-ai/babysitter

Matches portfolio company needs with investor network resources

string-algorithm-matcher

509

from a5c-ai/babysitter

Match string problems to appropriate algorithms

process-builder

509

from a5c-ai/babysitter

Scaffold new babysitter process definitions following SDK patterns, proper structure, and best practices. Guides the 3-phase workflow from research to implementation.

Workflow & Productivity

babysitter

509

from a5c-ai/babysitter

Orchestrate via @babysitter. Use this skill when asked to babysit a run, orchestrate a process or whenever it is called explicitly. (babysit, babysitter, orchestrate, orchestrate a run, workflow, etc.)