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EDNTOM:一种基于集成学习和权重机制的纳米孔甲基化检测工具。

EDNTOM: An Ensemble Learning and Weight Mechanism-Based Nanopore Methylation Detection Tool.

作者信息

Tian Ge, Yin Chenglin, Qiao Jianbo, Wang Ruheng, Shi Hua, Cui Feifei, Zhang Zilong, Jiang Xinbo, Wei Leyi

机构信息

School of Software, Shandong University, Jinan 250100, China.

School of Optoelectronic and Communication Engineering, Xiamen University of Technology, Xiamen 361024, China.

出版信息

ACS Omega. 2025 Jul 23;10(30):33031-33044. doi: 10.1021/acsomega.5c01924. eCollection 2025 Aug 5.

DOI:10.1021/acsomega.5c01924
PMID:40787313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12332607/
Abstract

DNA methylation is an epigenetic modification that plays a crucial role in genome stability and cellular specialization, essential for maintaining normal cellular function and development, also a manifestation indicator of some diseases. Various tools have been proposed for methylation detection, typically leveraging a third-generation sequencing technology called nanopore sequencing, which provides more accurate DNA sequencing data. However, existing tools have their own limitations and advantages in terms of computational resources and information processing, without achieving a good balance. In this situation, we developed EDNTOM (Ensemble Deep Network Tool Of Methylation), a DNA methylation detection tool based on deep learning technology. We employed ensemble learning techniques, integrating predictions from multiple pretrained single models, and introduced an attention weight mechanism to provide accurate and reliable detection, reducing the consumption of computational resources. Results demonstrate that EDNTOM outperforms individual models. Additionally, in cross-species transfer experiments, EDNTOM exhibits strong transfer learning capabilities. We hope this work can provide a more powerful and reliable solution for methylation detection, contributing to the fields of biological science and medicine. The project code is available at https://github.com/ViceMusic/EDNTOM.

摘要

DNA甲基化是一种表观遗传修饰,在基因组稳定性和细胞特化中起着关键作用,这对于维持正常细胞功能和发育至关重要,也是一些疾病的表现指标。已经提出了各种用于甲基化检测的工具,通常利用一种称为纳米孔测序的第三代测序技术,该技术可提供更准确的DNA测序数据。然而,现有工具在计算资源和信息处理方面各有其局限性和优势,未能实现良好的平衡。在这种情况下,我们开发了EDNTOM(甲基化集成深度网络工具),这是一种基于深度学习技术的DNA甲基化检测工具。我们采用了集成学习技术,整合了多个预训练单模型的预测结果,并引入了注意力权重机制以提供准确可靠的检测,同时减少计算资源的消耗。结果表明,EDNTOM优于单个模型。此外,在跨物种转移实验中,EDNTOM表现出强大的迁移学习能力。我们希望这项工作能够为甲基化检测提供更强大、可靠的解决方案,为生物科学和医学领域做出贡献。该项目代码可在https://github.com/ViceMusic/EDNTOM获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4484/12332607/140efd4c93b5/ao5c01924_0013.jpg
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