A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs

A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs

Rare diseases, affecting ~350 million people worldwide, pose significant challenges in clinical diagnosis due to the lack of experienced physicians and the complexity of differentiating between numerous rare diseases. To address these challenges, we introduce PhenoBrain, a fully automated artificial...

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Bibliographic Details
Main Authors: Mao, X, Huang, Y, Jin, Y, Wang, L, Chen, X, Liu, H, Yang, X, Xu, H, Luan, X, Xiao, Y, Feng, S, Zhu, J, Zhang, X, Jiang, R, Zhang, S, Chen, T
Format: Journal article
Language:English
Published: Nature Research 2025

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