arXiv:2410.11046cs.IRcs.LG2024-10被引 5

分阶段融合多组学数据,低成本高精度诊断阿尔茨海默病

SGUQ: Staged Graph Convolution Neural Network for Alzheimer's Disease Diagnosis using Multi-Omics Data

  • 按需逐步引入基因、甲基化等组学数据,降低检测成本
  • 仅用mRNA可预测46.23%样本,加甲基化再提升16.04%
  • 在ROSMAP数据集上准确率达85.8%,优于现有方法

阿尔茨海默病(AD)是慢性神经退行性疾病,全球范围内显著影响医疗成本、死亡率与社会负担。高通量组学技术(如基因组学、转录组学、蛋白质组学、表观遗传组学)推动了对AD的分子机制理解。传统AI方法需全部组学数据才能实现最佳诊断,效率低且不必要。为此,我们提出一种带不确定性量化的新颖分阶段图卷积网络(SGUQ)。SGUQ从mRNA开始,仅在必要时逐步加入DNA甲基化和miRNA数据,减少总体成本与有害检测暴露。实验表明,46.23%样本仅凭单模态组学(mRNA)即可可靠预测,额外16.04%样本通过整合mRNA+DNA甲基化实现可靠预测。SGUQ在ROSMAP数据集上达到0.858的准确率,显著优于现有方法。该模型不仅适用于多组学AD诊断,也具备临床多视角决策潜力。代码已公开于https://github.com/chenzhao2023/multiomicsuncertainty。

原文摘要 · Abstract (English)

Alzheimer's disease (AD) is a chronic neurodegenerative disorder and the leading cause of dementia, significantly impacting cost, mortality, and burden worldwide. The advent of high-throughput omics technologies, such as genomics, transcriptomics, proteomics, and epigenomics, has revolutionized the molecular understanding of AD. Conventional AI approaches typically require the completion of all omics data at the outset to achieve optimal AD diagnosis, which are inefficient and may be unnecessary. To reduce the clinical cost and improve the accuracy of AD diagnosis using multi-omics data, we propose a novel staged graph convolutional network with uncertainty quantification (SGUQ). SGUQ begins with mRNA and progressively incorporates DNA methylation and miRNA data only when necessary, reducing overall costs and exposure to harmful tests. Experimental results indicate that 46.23% of the samples can be reliably predicted using only single-modal omics data (mRNA), while an additional 16.04% of the samples can achieve reliable predictions when combining two omics data types (mRNA + DNA methylation). In addition, the proposed staged SGUQ achieved an accuracy of 0.858 on ROSMAP dataset, which outperformed existing methods significantly. The proposed SGUQ can not only be applied to AD diagnosis using multi-omics data but also has the potential for clinical decision-making using multi-viewed data. Our implementation is publicly available at https://github.com/chenzhao2023/multiomicsuncertainty.

阿尔茨海默病多组学图神经网络诊断模型

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