Deep representation learning for clustering longitudinal survival data from electronic health records.

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Tác giả: Jatin Arora, Boris Alexander Bartholdy, Ingrid Braenne, Johann de Jong, Zhihao Ding, Abdullah Mesut Erzurumluoglu, Shrey Gandhi, Yao Hu, Jan Nygaard Jensen, Pierre Khoueiry, Li Li, Stefanie Mueller, Boris Noyvert, Jiajun Qiu, Jochen Schmitz, Charles Whitehurst

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Nature communications , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 712020

Precision medicine requires accurate identification of clinically relevant patient subgroups. Electronic health records provide major opportunities for leveraging machine learning approaches to uncover novel patient subgroups. However, many existing approaches fail to adequately capture complex interactions between diagnosis trajectories and disease-relevant risk events, leading to subgroups that can still display great heterogeneity in event risk and underlying molecular mechanisms. To address this challenge, we implemented VaDeSC-EHR, a transformer-based variational autoencoder for clustering longitudinal survival data as extracted from electronic health records. We show that VaDeSC-EHR outperforms baseline methods on both synthetic and real-world benchmark datasets with known ground-truth cluster labels. In an application to Crohn's disease, VaDeSC-EHR successfully identifies four distinct subgroups with divergent diagnosis trajectories and risk profiles, revealing clinically and genetically relevant factors in Crohn's disease. Our results show that VaDeSC-EHR can be a powerful tool for discovering novel patient subgroups in the development of precision medicine approaches.
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