Knowledge-Embedded Latent Projection for Robust Representation Learning
Authors: Weijing Tang, Ming Yuan, Zongqi Xia, Tianxi Cai
Organizations: Department of Statistics and Data Science, Carnegie Mellon University · Department of Statistics, Columbia University · Department of Neurology, University of Pittsburgh · Department of Biostatistics, Harvard University
Latent space models are widely used for analyzing high-dimensional discrete data matrices, such as patient-feature matrices in electronic health records (EHRs), by capturing complex dependence structures through low-dimensional embeddings. However, estimation becomes challenging in the imbalanced regime, where one matrix dimension is much larger than the other. In EHR applications, cohort sizes are often limited by disease prevalence or data availability, whereas the feature space remains extremely large due to the breadth of medical coding system. Motivated by the increasing availability of external semantic embeddings, such as pre-trained embeddings of clinical concepts in EHRs, we propose a knowledge-embedded latent projection model that leverages semantic side information to regularize representation learning. Specifically, we model column embeddings as smooth functions of semantic embeddings via a mapping in a reproducing kernel Hilbert space. We develop a computationally efficient two-step estimation procedure that combines semantically guided subspace construction via kernel principal component analysis with scalable projected gradient descent. We establish estimation error bounds that characterize the trade-off between statistical error and approximation error induced by the kernel projection. Furthermore, we provide local convergence guarantees for our non-convex optimization procedure. Extensive simulation studies and a real-world EHR application demonstrate the effectiveness of the proposed method.
Figures & tables
Figure 1: Comparison between the proposed KELP estimator with data-driven kernel selection and the standard GLFM. Panels (a) and (b) show log-log plots of the relative estimation error for Θ versus the number of rows n and the the number of columns p , respectively. The upper and lower rows correspond to the linear (1) and nonlinear (2) mapping function settings. Panel (c) shows the relative errors for U and V versus the proportion of zero entries (sparsity level) under the linear mapping setting.
Figure 2: Evaluation of learned feature and patients embeddings on clinical downstream tasks. Panel (a) reports AuROC for recovering known MS-related clinical relationships, comparing three sets of feature embeddings: knowledge-fused LSM, GLFM trained solely on the MS cohort, and the original VA embeddings. Panel (b) reports AuROC for severe disability phenotyping at enrollment (left) and one-year follow-up (right), comparing two feature sets: the patient embeddings in an r -dimensional latent space and the original high-dimensional binary EHR features.
We propose a spectral-based, unsupervised representation learning framework to derive low-dimensional embeddings for clinical concepts and patients in rare disease cohorts from electronic health records, where data are high-dimensional but sample sizes are limited. To overcome this challenge, we incorporate a knowledge matrix extracted from a broader population that shares a partially overlapping subspace with the rare-disease cohort. Our method departs from existing approaches by relaxing restrictive one-to-one signal-alignment assumptions between the latent data matrix and knowledge matrix, allowing more flexible and realistic forms of structured sharing. We introduce a novel two-step spectral embedding procedure: first, we identify and remove irrelevant components from the knowledge matrix; then, we apply a projection-based method to separately recover shared and heterogeneous components. Simulations and an analysis of a real-world multiple sclerosis cohort show that the proposed method outperforms competing approaches, particularly in challenging scenarios where shared signals are weak and only partially aligned, as is common in rare-disease data.
Feiqing Huang, Zongqi Xia, Rong Ma +1
Department of Biostatistics, Harvard T.H. Chan School of Public Health · Department of Neurology, University of Pittsburgh · Department of Data Science, Dana-Farber Cancer Institute +1
Representation learning in electronic health records (EHR) has largely followed paradigms inherited from natural language processing, relying on sequence modeling and reconstruction based objectives that treat clinical labels as ground truth. However, real world clinical supervision is inherently weak, arising from heterogeneous, noisy, and institution specific labeling processes such as billing codes, heuristic phenotypes, and incomplete annotations. In this work, we propose WISTERIA, a weakly supervised representation learning framework that models labels as stochastic observations of an underlying latent clinical state. Instead of optimizing against a single supervision signal, WISTERIA constructs multiple weak supervision operators and learns representations by enforcing consistency across their induced label distributions. This multi view formulation induces an implicit denoising mechanism, allowing the model to recover clinically meaningful structure by reconciling disagreement between noisy labelers. We further incorporate ontology aware regularization in the label space to impose semantic structure over supervision signals. Empirically, WISTERIA improves predictive performance across standard EHR benchmarks, demonstrates strong robustness to label noise, and exhibits superior cross institutional generalization compared to sequence based pretraining objectives. These results suggest that explicitly modeling the supervision process rather than treating labels as fixed targets provides a more appropriate inductive bias for learning robust and clinically meaningful representations from EHR data.
Ruan Dong, Yuanyun Zhang, Shi Li
University of Science and Technology of China · Columbia University
In electronic health record (EHR) mining, learning high-quality representations of medical concepts (e.g., standardized diagnosis, medication, and procedure codes) is fundamental for downstream clinical prediction. However, ro bust concept representation learning is hindered by two key challenges: (i) clinically important cross-type dependencies (e.g., diagnosis medication and medication-procedure relations) are often missing or incomplete in existing ontology resources, limiting the ability to model complex EHR patterns; and (ii) rich clinical semantics are often missing from structured resources, and even when available as text, are difficult to integrate with KG structure for representation learning. To address these challenges, we present MedCo, an LLM empowered graph learning framework for medical concept representation. MedCo first builds a global knowledge graph (KG) over medical codes by combining statistically reliable associations mined from EHRs with type-constrained LLM prompting to infer semantic relations. It then utilizes LLMs to enrich the KG into a text-attributed graph by generating node descriptions and edge rationales, providing semantic signals for both concepts and their relationships. Finally, MedCo jointly trains a LoRA-tuned LLaMA text encoder with a heterogeneous GNN, fusing text semantics and graph structure into unified concept embeddings. Extensive experiments on MIMIC-III and MIMIC-IV show that MedCo consistently improves prediction performance and serves as an effective plug-in concept encoder for standard EHR pipelines.