用贝叶斯超图建模疾病风险路径,揭示共性风险因素如何组织罕见病关联。
Disentangling Latent Risk Pathways via Bayesian Hypergraph Inference

- 将疾病与风险因素建模为超边上的潜在路径,支持多病共享结构。
- 在英国生物银行数据上实现罕见病预测性能提升,不确定性校准良好。
- 适合临床研究者和可解释医学AI开发者,助力风险机制发现。
电子健康记录(EHR)带来大规模多病建模挑战,许多疾病罕见且受共用风险因素强烈影响。现有方法虽预测性能强,但常独立处理疾病或依赖黑箱模型,难以揭示风险因素如何组织疾病风险,也缺乏严谨的不确定性量化。本文提出一种贝叶斯超图推断框架,将多病建模重构为由风险因素调控的潜在风险路径。风险因素作用于超边(即具有共同风险模式的疾病子集),使疾病可参与多个不同路径,从而实现超越成对关联的高阶可解释结构。通过排斥先验鼓励简洁、可识别结构,后验推断提供疾病分组与风险因素影响的校准不确定性。为支持大规模EHR数据的可扩展推断,我们设计一种保留超边存在性、疾病归属与路径效应间逻辑依赖的结构化变分推断算法。在模拟数据与英国生物银行数据上的实验表明,该方法能稳定生成可解释的疾病路径结构,不确定性校准良好,对罕见病估计性能提升,预测表现具有竞争力。
原文摘要 · Abstract (English)
Electronic health records (EHR) pose large-scale multi-disease modeling problems in which many outcomes are rare and strongly influenced by shared risk factors. While modern approaches achieve strong predictive performance, they often treat diseases independently or rely on black-box architectures, offering limited insight into how risk factors organize disease risk and little principled uncertainty quantification. We introduce a Bayesian hypergraph inference framework that reframes multi-disease modeling around latent, risk-factor-modulated disease pathways. Risk factors act on hyperedges, latent disease subsets with shared risk patterns, allowing diseases to participate in multiple distinct pathways and enabling interpretable, higher-order structure beyond pairwise associations. A repulsion prior encourages parsimonious and identifiable structure, while posterior inference provides calibrated uncertainty over both disease groupings and risk-factor influence. To enable scalable inference on large EHR datasets, we develop a structured variational inference algorithm that preserves logical dependencies among hyperedge existence, disease membership, and pathway-level effects. Experiments on simulated data and UK Biobank demonstrate stable and interpretable disease pathway structure, well-calibrated uncertainty, improved estimation for rare diseases, and competitive predictive performance.
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