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Article

Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review.

Journal of the American Medical Informatics Association : JAMIA - 1 Jun 2026

Kim Seungjun, Zhou Yiliang, Guo Yawen, Xiao Changrui, Zheng Kai

Abstract excerpt

OBJECTIVES: Patients with rare diseases often face long delays before receiving a diagnosis. Using electronic health records for automated phenotyping and diagnosis of rare diseases is a promising approach but can be challenging because critical information is often recorded in unstructured notes rather than structured fields. This systematic review synthesizes the current literature applying natural language...

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Identifiers

PMID: 41990239
DOI: 10.1093/jamia/ocag045
PMCID: PMC13197187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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