提出动态角色交换网络,提升阿尔茨海默病基因风险分析的准确性与可解释性。
GenDMR: A dynamic multimodal role-swapping network for identifying risk gene phenotypes
- 通过空间编码和多实例注意力,增强基因特征表示与可解释性
- 在ADNI数据集上达当前最佳性能,定位12个潜在高风险基因
- 适合关注疾病机制探索与可解释性模型的研究者
近期研究表明,融合影像与遗传特征的多模态数据方法有助于阿尔茨海默病(AD)的病因分析与预测诊断。然而现有深度学习方法存在两大缺陷:一是对遗传信息的选择与编码缺乏充分探讨;二是由于影像特征分类能力远强于遗传特征,多数研究过度强调影像优势,削弱了遗传特征的学习价值。为此,本文提出动态多模态角色交换网络(GenDMR)。GenDMR采用新方法编码单核苷酸多态性(SNPs)的空间组织结构,增强其基因组上下文表征;引入多实例注意力模块,自适应量化SNPs与脑区的疾病风险;设计主导模态选择模块与对比自蒸馏模块,实现基于主导与辅助模态的动态师生角色互换,促进多模态数据双向协同更新。在ADNI公开数据集上,GenDMR达到当前最优性能,并可视化注意力分布,确认12个潜在高风险基因,包括经典基因APOE及近年受关注的重要风险基因。结果表明,GenDMR具备可解释的遗传特征分析能力,为多模态融合技术发展提供新视角。
原文摘要 · Abstract (English)
Recent studies have shown that integrating multimodal data fusion techniques for imaging and genetic features is beneficial for the etiological analysis and predictive diagnosis of Alzheimer's disease (AD). However, there are several critical flaws in current deep learning methods. Firstly, there has been insufficient discussion and exploration regarding the selection and encoding of genetic information. Secondly, due to the significantly superior classification value of AD imaging features compared to genetic features, many studies in multimodal fusion emphasize the strengths of imaging features, actively mitigating the influence of weaker features, thereby diminishing the learning of the unique value of genetic features. To address this issue, this study proposes the dynamic multimodal role-swapping network (GenDMR). In GenDMR, we develop a novel approach to encode the spatial organization of single nucleotide polymorphisms (SNPs), enhancing the representation of their genomic context. Additionally, to adaptively quantify the disease risk of SNPs and brain region, we propose a multi-instance attention module to enhance model interpretability. Furthermore, we introduce a dominant modality selection module and a contrastive self-distillation module, combining them to achieve a dynamic teacher-student role exchange mechanism based on dominant and auxiliary modalities for bidirectional co-updating of different modal data. Finally, GenDMR achieves state-of-the-art performance on the ADNI public dataset and visualizes attention to different SNPs, focusing on confirming 12 potential high-risk genes related to AD, including the most classic APOE and recently highlighted significant risk genes. This demonstrates GenDMR's interpretable analytical capability in exploring AD genetic features, providing new insights and perspectives for the development of multimodal data fusion techniques.
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