Article

A systematic review and meta-analysis of the Diagnostic Performance of Large Language Models in Rare Diseases

2026-06-15

Abstract excerpt

<title>Abstract</title> <p> <bold>Background and Objectives:</bold> Despite the vast number of individuals affected globally, rare diseases(RDs) remain notoriously difficult to diagnose, often leaving patients in a prolonged "diagnostic odyssey." While Large Language Models (LLMs) and Retrieval-Augmented Generation (RAG) have demonstrated significant potential in clinical decision support, there is a notable la...

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Literature Corpus work: ee78557e-38ae-5cd6-9908-ba40f7778f7b
DOI: 10.21203/rs.3.rs-10011746/v1

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