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.
The canonical home for this skill is tooluniverse-rare-disease-genomics in mims-harvard/ToolUniverse
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- mims-harvard/ToolUniverse
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