J. Michael Gaziano | Searcharxiv

arXiv2026

Representation learning to advance multi-institutional studies with electronic health record data from US and France

The widespread adoption of electronic health records has created new opportunities for translational clinical research, yet this promise remains constrained by fragmented data across privacy-siloed institutions and substantial heterogeneity in local coding practices. While privacy-preserving collaborative learning allows institutions to work together without sharing patient-level data, it does not address inconsistencies in how clinical concepts are represented across sites. We introduce a graph-based framework that addresses this gap by treating data harmonization as a scalable representation learning problem. Rather than relying on fixed standards or manual mappings, the framework integrates institution-specific summary statistics from health records, curated biomedical knowledge graphs, and semantic information derived from large language models to learn a shared semantic space. This joint learning approach aligns diverse, site-specific vocabularies while preserving patient privacy. Evaluated across seven institutions and two languages, the framework provides a robust, data-centric foundation for training and deploying clinical models across heterogeneous healthcare systems.

cs.AI↗

arXiv2023

LATTE: Label-efficient Incident Phenotyping from Longitudinal Electronic Health Records

Electronic health record (EHR) data are increasingly used to support real-world evidence (RWE) studies. Yet its ability to generate reliable RWE is limited by the lack of readily available precise information on the timing of clinical events such as the onset time of heart failure. We propose a LAbel-efficienT incidenT phEnotyping (LATTE) algorithm to accurately annotate the timing of clinical events from longitudinal EHR data. By leveraging the pre-trained semantic embedding vectors from large-scale EHR data as prior knowledge, LATTE selects predictive EHR features in a concept re-weighting module by mining their relationship to the target event and compresses their information into longitudinal visit embeddings through a visit attention learning network. LATTE employs a recurrent neural network to capture the sequential dependency between the target event and visit embeddings before/after it. To improve label efficiency, LATTE constructs highly informative longitudinal silver-standard labels from large-scale unlabeled patients to perform unsupervised pre-training and semi-supervised joint training. Finally, LATTE enhances cross-site portability via contrastive representation learning. LATTE is evaluated on three analyses: the onset of type-2 diabetes, heart failure, and the onset and relapses of multiple sclerosis. We use various evaluation metrics present in the literature including the $ABC_{gain}$, the proportion of reduction in the area between the observed event indicator and the predicted cumulative incidences in reference to the prediction per incident prevalence. LATTE consistently achieves substantial improvement over benchmark methods such as SAMGEP and RETAIN in all settings.

cs.AI↗