tooluniverse-rare-disease-genomics
๐ฏSkillfrom mims-harvard/tooluniverse
|A rare disease genomics research skill that supports disease identification via Orphanet, causative gene discovery, gene-disease validity assessment via GenCC, pathogenic variant lookup via ClinVar, HPO phenotype mapping, and clinical trial search. Follows a phenotype-to-variant investigation strategy.
Same repository
mims-harvard/tooluniverse(149 items)
Installation
npx vibeindex add mims-harvard/tooluniverse --skill tooluniverse-rare-disease-genomicsnpx skills add mims-harvard/tooluniverse --skill tooluniverse-rare-disease-genomics~/.claude/skills/tooluniverse-rare-disease-genomics/SKILL.mdSKILL.md
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