tooluniverse-rare-disease-genomics Guide
Rare disease genomics — disease identification (Orphanet), causative gene discovery, gene-disease validity (GenCC), variant interpretation (ClinVar), and translational research (ClinicalTrials.gov, drug repurposing for orphans). Use for rare-disease-gene curation, novel-gene-discovery analysis, and rare-disease drug-development support.
When to use tooluniverse-rare-disease-genomics
Rare disease genomics — disease identification (Orphanet), causative gene discovery, gene-disease validity (GenCC), variant interpretation (ClinVar), and translational research (ClinicalTrials.gov, drug repurposing for orphans). Use for rare-disease-gene curation, novel-gene-discovery analysis, and rare-disease drug-development support.
How to use tooluniverse-rare-disease-genomics
tooluniverse-rare-disease-genomics is a Claude skill in the SKILL.md format. Add it to your Claude environment from the source repository below, then it activates as a user-invocable skill when your task matches its description.