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Open access Sep 2026

LLM-enabled Natural History Study Analysis to Support Rare Disease Research

Background: Rare diseases affect an estimated 300 million people worldwide, yet the research needed to guide diagnosis and treatment is often fragmented across multiple unstructured literature sources. Natural history studies (NHS) are a key source of this evidence, but manually extracting structured information from N...

Kevin Li, E. Sid, Qian Zhu · 0 citations

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