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Article

Decoding Rarity: Large Language Models in the Diagnosis of Rare Diseases

2026-04-28

Abstract excerpt

<title>Abstract</title> <p>Large language models (LLMs) have shown promising capabilities in transforming rare disease research. This survey paper explores the integra- tion of LLMs in analyzing rare diseases, highlighting significant strides and pivotal studies that leverage textual data to uncover insights and patterns critical for diagnosis, treatment, and patient care. While current research predominantly emp...

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Literature Corpus work
79734bc6-1c67-5bc1-b03a-6d3cde39c5e6
DOI
10.21203/rs.3.rs-9356553/v1
Open publication

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Decoding Rarity: Large Language Models in the Diagnosis of Rare DiseasesDOI 10.21203/rs.3.rs-9356553/v1
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