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

Abstract 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 a...

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Main Authors: Xiaohao Mao, Yu Huang, Ye Jin, Lun Wang, Xuanzhong Chen, Honghong Liu, Xinglin Yang, Haopeng Xu, Xiaodong Luan, Ying Xiao, Siqin Feng, Jiahao Zhu, Xuegong Zhang, Rui Jiang, Shuyang Zhang, Ting Chen
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Digital Medicine
Online Access:https://doi.org/10.1038/s41746-025-01452-1
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