arXiv:2508.18303cs.LGcs.AI2025-08被引 2

提出可解释的深度学习框架,揭示脑结构与基因关联。

Learning Explainable Imaging-Genetics Associations Related to a Neurological Disorder

  • 用交叉注意力融合脑影像与基因数据,捕捉关键交互
  • 在自闭症和阿尔茨海默病上表现优于基线模型
  • 结果具生物学合理性,适合神经疾病研究者使用

虽然影像遗传学在揭示神经系统疾病中脑结构与基因变异复杂关系方面潜力巨大,但传统方法受限于简单的线性模型或缺乏可解释性的黑箱技术。本文提出NeuroPathX,一种基于交叉注意力机制的早期融合可解释深度学习框架,用于捕捉来自MRI的脑结构变异与来自遗传数据的已知生物通路之间的有意义交互。为增强可解释性和鲁棒性,我们在注意力矩阵上引入两种损失函数:稀疏性损失聚焦最显著的交互,通路相似性损失则确保群体内表示一致性。我们在自闭症谱系障碍(ASD)和阿尔茨海默病(AD)数据集上验证了NeuroPathX,结果表明其性能超越现有基线方法,并揭示了与疾病相关的生物合理关联。这些发现凸显了NeuroPathX在推进复杂脑疾病理解方面的潜力。代码已公开于https://github.com/jueqiw/NeuroPathX。

原文摘要 · Abstract (English)

While imaging-genetics holds great promise for unraveling the complex interplay between brain structure and genetic variation in neurological disorders, traditional methods are limited to simplistic linear models or to black-box techniques that lack interpretability. In this paper, we present NeuroPathX, an explainable deep learning framework that uses an early fusion strategy powered by cross-attention mechanisms to capture meaningful interactions between structural variations in the brain derived from MRI and established biological pathways derived from genetics data. To enhance interpretability and robustness, we introduce two loss functions over the attention matrix - a sparsity loss that focuses on the most salient interactions and a pathway similarity loss that enforces consistent representations across the cohort. We validate NeuroPathX on both autism spectrum disorder and Alzheimer's disease. Our results demonstrate that NeuroPathX outperforms competing baseline approaches and reveals biologically plausible associations linked to the disorder. These findings underscore the potential of NeuroPathX to advance our understanding of complex brain disorders. Code is available at https://github.com/jueqiw/NeuroPathX .

影像遗传学可解释AI脑疾病

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