scientific-rare-disease-genetics
CommunityIntegrated rare-disease genetics data pipeline.
Authornahisaho
Version1.0.0
Installs0
System Documentation
What problem does it solve?
OMIM / Orphanet / DisGeNET / IMPC data are dispersed across specialized resources; this Skill unifies them into a coherent rare-disease genetics analysis pipeline that helps researchers identify candidate genes and compare human data with model organisms.
Core Features & Use Cases
- OMIM gene-disease mapping for Mendelian links and candidate gene prioritization.
- Orphanet classification and prevalence lookup to contextualize diseases.
- DisGeNET disease-gene association scores to rank gene relevance.
- IMPC mouse phenotype references for cross-species interpretation.
- Integrated, cross-source profiling to support gene-disease hypothesis generation.
Quick Start
Run a rare-disease gene profiling workflow for a gene symbol to retrieve cross-source evidence.
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-rare-disease-genetics Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-rare-disease-genetics Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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