scientific-disease-research
CommunityIntegrate GWAS and disease data for insights.
Authornahisaho
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Disease-genetic analysis often requires integrating multiple data sources (GWAS Catalog, Orphanet, OMIM, HPO, DisGeNET) to identify gene-disease associations and support diagnostic reasoning.
Core Features & Use Cases
- Integrated disease-genetic analysis across GWAS catalogs, rare-disease databases, and phenotype ontologies to prioritize candidate genes and diagnoses.
- Use cases include interpreting GWAS results, rare disease diagnosis support, phenotype-genotype mapping, and epidemiological characterization.
- Example: map patient HPO terms to candidate diseases and then extract top gene-disease associations for reporting.
Quick Start
Provide a list of HPO terms and let the skill rank candidate diseases and implicated genes.
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: scientific-disease-research Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-disease-research Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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