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Article

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.

International journal of medical informatics - 1 Nov 2025

Faviez Carole, Wang Xiaomeng, Vincent Marc, Garcelon Nicolas, Saunier Sophie, Cormier-Daire Valérie, Chen Xiaoyi, Burgun Anita

Abstract excerpt

BACKGROUND: Patients with rare diseases frequently experience misdiagnoses and long diagnostic delays. Accelerating their diagnosis is essential to ensure timely access to appropriate care. Given the increasing availability of EHRs, combining artificial intelligence and deep phenotyping from large-scale clinical databases offers a promising approach to identify undiagnosed patients. This study assesses the impact...

Read the complete abstract on PubMed

Topics

Humans
Electronic Health Records
Phenotype
Rare Diseases
Algorithms
Deep Learning

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40561686
DOI: 10.1016/j.ijmedinf.2025.106021

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