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.
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Low-risk findings worth noting
The skill exposes the agent to untrusted, user-generated content from public third-party sources, creating a risk of indirect prompt injection. This includes browsing arbitrary URLs, reading social media posts or forum comments, and analyzing content from unknown websites.
The required workflow queries structured scientific databases (Orphanet, GenCC, ClinVar, ClinicalTrials.gov, EuropePMC) via tools, which return biomedical annotations and literature metadata that are either trusted first-party/curated or require active searches rather than ingesting unauthenticated outsider-authored feeds directly.
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