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06/01/26

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

Kim, Seungjun; Zhou, Yiliang; Guo, Yawen; Xiao, Changrui; Zheng, Kai. J Am Med Inform Assoc.

Collection Topics
AI and Diagnosis Equity, Access, and Timeliness Health IT
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Summary

Patients with rare diseases often experience substantial diagnostic delays. This systematic review examines how NLPs and LLMs are being used to analyze unstructured clinical notes, where key diagnostic information is frequently documented. Of 27 studies, a few showed increased genetic testing and identification of a condition; but most studies relied on retrospective, single site studies, and low validity.
Read the paper
Kim S, Zhou Y, Guo Y, et al. Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review. J Am Med Inform Assoc. 2026;33(6):1225-1235.