将心脏影像与多组学数据融合,揭示心血管疾病分子机制
Imaging-anchored Multiomics in Cardiovascular Disease: Integrating Cardiac Imaging, Bulk, Single-cell, and Spatial Transcriptomics
- 以影像定义心脏结构表型,整合多种组学数据提供分子背景
- 提出多模态融合策略,解决数据缺失、样本少和批次效应问题
- 适合心血管研究者、生物信息学家及医学影像分析人员参考
心血管疾病源于遗传风险、分子程序与组织尺度重构的交互作用,临床可通过影像观察。当前医疗系统常规生成大量心脏磁共振(MRI)、CT 和超声心动图,以及批量、单细胞和空间转录组数据,但这些数据仍分散分析。本综述探讨将心脏影像表型与转录组及空间分子状态关联的联合表示方法。采用影像锚定视角:超声心动图、心脏MRI 和 CT 定义心脏的空间表型,而批量、单细胞和空间转录组提供细胞类型与位置特异的分子上下文。首先总结各模态的生物学与技术特征,并概述其表示学习策略。回顾多模态融合方法,重点关注数据缺失、样本量小和批次效应的处理。最后讨论放射基因组学、空间分子对齐及基于图像预测基因表达的集成流程,包括常见失败模式、实践考量与开放挑战。人类心肌和动脉粥样硬化斑块的空间多组学、单细胞与空间基础模型,以及多模态医学基础模型正推动影像锚定多组学向大规模心血管转化应用迈进。
原文摘要 · Abstract (English)
Cardiovascular disease arises from interactions between inherited risk, molecular programmes, and tissue-scale remodelling that are observed clinically through imaging. Health systems now routinely generate large volumes of cardiac MRI, CT and echocardiography together with bulk, single-cell and spatial transcriptomics, yet these data are still analysed in separate pipelines. This review examines joint representations that link cardiac imaging phenotypes to transcriptomic and spatially resolved molecular states. An imaging-anchored perspective is adopted in which echocardiography, cardiac MRI and CT define a spatial phenotype of the heart, and bulk, single-cell and spatial transcriptomics provide cell-type- and location-specific molecular context. The biological and technical characteristics of these modalities are first summarised, and representation-learning strategies for each are outlined. Multimodal fusion approaches are reviewed, with emphasis on handling missing data, limited sample size, and batch effects. Finally, integrative pipelines for radiogenomics, spatial molecular alignment, and image-based prediction of gene expression are discussed, together with common failure modes, practical considerations, and open challenges. Spatial multiomics of human myocardium and atherosclerotic plaque, single-cell and spatial foundation models, and multimodal medical foundation models are collectively bringing imaging-anchored multiomics closer to large-scale cardiovascular translation.
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