Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand.
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Brief Bioinform. 2023 Sep 22;24(6). doi: 10.1093/bib/bbad411.
DNA methylation is a fundamental epigenetic modification involved in various biological processes and diseases. Analysis of DNA methylation data at a genome-wide and high-throughput level can provide insights into diseases influenced by epigenetics, such as cancer. Recent technological advances have led to the development of high-throughput approaches, such as genome-scale profiling, that allow for computational analysis of epigenetics. Deep learning (DL) methods are essential in facilitating computational studies in epigenetics for DNA methylation analysis. In this systematic review, we assessed the various applications of DL applied to DNA methylation data or multi-omics data to discover cancer biomarkers, perform classification, imputation and survival analysis. The review first introduces state-of-the-art DL architectures and highlights their usefulness in addressing challenges related to cancer epigenetics. Finally, the review discusses potential limitations and future research directions in this field.
DNA 甲基化是一种参与各种生物过程和疾病的基本表观遗传修饰。在全基因组和高通量水平上分析 DNA 甲基化数据,可以深入了解受表观遗传影响的疾病,如癌症。最近的技术进步促使高通量方法的发展,如全基因组分析,这使得能够对表观遗传学进行计算分析。深度学习(DL)方法对于促进 DNA 甲基化分析的表观遗传学计算研究至关重要。在这项系统评价中,我们评估了 DL 应用于 DNA 甲基化数据或多组学数据以发现癌症生物标志物、进行分类、插补和生存分析的各种应用。本综述首先介绍了最先进的 DL 架构,并强调了它们在解决与癌症表观遗传学相关的挑战方面的有用性。最后,本综述讨论了该领域的潜在局限性和未来的研究方向。