Wang Fayou, Zhang Naiqian, Wang Jun, Wu Hao, Zheng Xiaoqi
Brief Funct Genomics. 2016 Nov;15(6):408-419. doi: 10.1093/bfgp/elw016. Epub 2016 May 19.
DNA methylation is an epigenetic modification of DNA molecule that plays a vital role in gene expression regulation. It is not only involved in many basic biological processes, but also considered an important factor for tumorigenesis and other human diseases. Study of DNA methylation has been an active field in cancer epigenomics research. With the advances of high-throughput technologies and the accumulation of enormous amount of data, method development for analyzing these data has gained tremendous interests in the fields of computational biology and bioinformatics. In this review, we systematically summarize the recent developments of computational methods and software tools in high-throughput methylation data analysis with focus on two aspects: differential methylation analysis and tumor purity estimation in cancer studies.
DNA甲基化是DNA分子的一种表观遗传修饰，在基因表达调控中起着至关重要的作用。它不仅参与许多基本生物学过程，还被认为是肿瘤发生和其他人类疾病的一个重要因素。DNA甲基化研究一直是癌症表观基因组学研究中的一个活跃领域。随着高通量技术的进步和大量数据的积累，分析这些数据的方法开发在计算生物学和生物信息学领域引起了极大兴趣。在本综述中，我们系统地总结了高通量甲基化数据分析中计算方法和软件工具的最新进展，重点关注两个方面：癌症研究中的差异甲基化分析和肿瘤纯度估计。
