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Article

A hybrid framework with large language models for rare disease phenotyping.

BMC medical informatics and decision making - 8 Oct 2024

Wu Jinge, Dong Hang, Li Zexi, Wang Haowei, Li Runci, Patra Arijit, Dai Chengliang, Ali Waqar, Scordis Phil, Wu Honghan

Abstract excerpt

PURPOSE: Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual curation is time-consuming and prone to subjectivity. This study aims to develop a hybrid approach combining dictionary-based natural language processing (NLP) tools...

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Identifiers

PMID: 39375687
DOI: 10.1186/s12911-024-02698-7
PMCID: PMC11460004

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