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.
This skill does not declare a tool allowlist. The agent host applies whatever default tools are available at runtime.
SKILL.md / Manifest
https://raw.githubusercontent.com/mims-harvard/tooluniverse/main/plugin/skills/tooluniverse-rare-disease-genomics/SKILL.mdRegistry
github (via claudemarketplaces.com)