arXiv:2504.03733q-bio.GNcs.AI2025-04综述被引 32

综述AI在表观遗传序列分析中的应用,连接生物学家与算法专家

Artificial Intelligence and Deep Learning Algorithms for Epigenetic Sequence Analysis: A Review for Epigeneticists and AI Experts

  • 构建表观遗传学问题的AI解决方案分类体系
  • 梳理多类任务(如疾病标志物预测、染色质状态识别)的模型方法
  • 为跨领域研究者提供文献指引与未来方向建议

表观遗传学通过不改变基因序列的方式调控基因表达,涉及DNA甲基化、组蛋白修饰、染色质构象及非编码RNA等机制。这些调控异常可导致癌症、先天畸形等多种疾病。过去几十年中,高通量实验技术被广泛用于解析表观遗传变化,但实验过程耗时且成本高昂。为此,机器学习与人工智能方法被广泛应用,以建立表观遗传修饰与其表型表现之间的关联。本文系统回顾了基于表观基因组数据训练的AI模型在疾病标志物预测、基因表达推断、增强子-启动子互作识别和染色质状态划分等方面的研究进展。本综述旨在服务两类读者:对AI研究者,提供可应用AI的表观遗传学问题分类;对表观遗传学家,针对每类问题列出已有文献中的可行模型方案。此外,还指出了当前研究中的空白、挑战及改进建议。

原文摘要 · Abstract (English)

Epigenetics encompasses mechanisms that can alter the expression of genes without changing the underlying genetic sequence. The epigenetic regulation of gene expression is initiated and sustained by several mechanisms such as DNA methylation, histone modifications, chromatin conformation, and non-coding RNA. The changes in gene regulation and expression can manifest in the form of various diseases and disorders such as cancer and congenital deformities. Over the last few decades, high throughput experimental approaches have been used to identify and understand epigenetic changes, but these laboratory experimental approaches and biochemical processes are time-consuming and expensive. To overcome these challenges, machine learning and artificial intelligence (AI) approaches have been extensively used for mapping epigenetic modifications to their phenotypic manifestations. In this paper we provide a narrative review of published research on AI models trained on epigenomic data to address a variety of problems such as prediction of disease markers, gene expression, enhancer promoter interaction, and chromatin states. The purpose of this review is twofold as it is addressed to both AI experts and epigeneticists. For AI researchers, we provided a taxonomy of epigenetics research problems that can benefit from an AI-based approach. For epigeneticists, given each of the above problems we provide a list of candidate AI solutions in the literature. We have also identified several gaps in the literature, research challenges, and recommendations to address these challenges.

表观遗传AI综述基因调控机器学习

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