A systematic review of LLMs for rare disease diagnosis that catalogs datasets, ontologies, and challenges, but whose promised original experiment is absent and whose study counts do not add up.
High accuracy but limited readability of large language model-generated responses to fre- quently asked questions about kienb¨ ock’s disease
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Decoding Rarity: Large Language Models in the Diagnosis of Rare Diseases
A systematic review of LLMs for rare disease diagnosis that catalogs datasets, ontologies, and challenges, but whose promised original experiment is absent and whose study counts do not add up.