Tianrun Cai

Zebin Wang, Ziming Gan, Weijing Tang et al.

Classical probabilistic graphical models face fundamental challenges in modern data environments, which are characterized by high dimensionality, source heterogeneity, and stringent data-sharing constraints. In this work, we revisit the Ising model, a well-established member of the Markov Random Field (MRF) family, and develop a distributed framework that enables scalable and privacy-preserving representation learning from large-scale binary data with inherent low-rank structure. Our approach optimizes a non-convex surrogate loss function via bi-factored gradient descent, offering substantial computational and communication advantages over conventional convex approaches. We evaluate our algorithm on multi-institutional electronic health record (EHR) datasets from 58,248 patients across the University of Pittsburgh Medical Center (UPMC) and Mass General Brigham (MGB), demonstrating superior performance in global representation learning and downstream clinical tasks, including relationship detection, patient phenotyping, and patient clustering. These results highlight a broader potential for statistical inference in federated, high-dimensional settings while addressing the practical challenges of data complexity and multi-institutional integration.

Doudou Zhou, Han Tong, Linshanshan Wang et al.

The adoption of EHRs has expanded opportunities to leverage data-driven algorithms in clinical care and research. A major bottleneck in effectively conducting multi-institutional EHR studies is the data heterogeneity across systems with numerous codes that either do not exist or represent different clinical concepts across institutions. The need for data privacy further limits the feasibility of including multi-institutional patient-level data required to study similarities and differences across patient subgroups. To address these challenges, we developed the GAME algorithm. Tested and validated across 7 institutions and 2 languages, GAME integrates data in several levels: (1) at the institutional level with knowledge graphs to establish relationships between codes and existing knowledge sources, providing the medical context for standard codes and their relationship to each other; (2) between institutions, leveraging language models to determine the relationships between institution-specific codes with established standard codes; and (3) quantifying the strength of the relationships between codes using a graph attention network. Jointly trained embeddings are created using transfer and federated learning to preserve data privacy. In this study, we demonstrate the applicability of GAME in selecting relevant features as inputs for AI-driven algorithms in a range of conditions, e.g., heart failure, rheumatoid arthritis. We then highlight the application of GAME harmonized multi-institutional EHR data in a study of Alzheimer's disease outcomes and suicide risk among patients with mental health disorders, without sharing patient-level data outside individual institutions.

Jun Wen, Jue Hou, Clara-Lea Bonzel et al.

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.

Luwan Zhang, Tianrun Cai

Unsupervised ensemble learning has long been an interesting yet challenging problem that comes to prominence in recent years with the increasing demand of crowdsourcing in various applications. In this paper, we propose a novel method-- unsupervised ensemble learning via Ising model approximation (unElisa) that combines a pruning step with a predicting step. We focus on the binary case and use an Ising model to characterize interactions between the ensemble and the underlying true classifier. The presence of an edge between an observed classifier and the true classifier indicates a direct dependence whereas the absence indicates the corresponding one provides no additional information and shall be eliminated. This observation leads to the pruning step where the key is to recover the neighborhood of the true classifier. We show that it can be recovered successfully with exponentially decaying error in the high-dimensional setting by performing nodewise $\ell_1$-regularized logistic regression. The pruned ensemble allows us to get a consistent estimate of the Bayes classifier for predicting. We also propose an augmented version of majority voting by reversing all labels given by a subgroup of the pruned ensemble. We demonstrate the efficacy of our method through extensive numerical experiments and through the application to EHR-based phenotyping prediction on Rheumatoid Arthritis (RA) using data from Partners Healthcare System.

Sheng Yu, Tianrun Cai, Tianxi Cai

Objective: Narrative text in Electronic health records (EHR) contain rich information for medical and data science studies. This paper introduces the design and performance of Narrative Information Linear Extraction (NILE), a natural language processing (NLP) package for EHR analysis that we share with the medical informatics community. Methods: NILE uses a modified prefix-tree search algorithm for named entity recognition, which can detect prefix and suffix sharing. The semantic analyses are implemented as rule-based finite state machines. Analyses include negation, location, modification, family history, and ignoring. Result: The processing speed of NILE is hundreds to thousands times faster than existing NLP software for medical text. The accuracy of presence analysis of NILE is on par with the best performing models on the 2010 i2b2/VA NLP challenge data. Conclusion: The speed, accuracy, and being able to operate via API make NILE a valuable addition to the NLP software for medical informatics and data science.