DNA甲基化作为一种表观遗传学修饰,在调控基因表达、X染色体失活、印记基因等方面都发挥着重要的作用.不同的DNA甲基化的预处理方法结合二代测序产生了大量的高通量甲基化数据,这些数据的存储、处理和分析是当前亟需解决的问题.在本文中,总结了目前存在的三种高通量DNA甲基化检测技术(限制性内切酶法,亲和纯化法,重亚硫酸盐转换法),以及针对这些技术产生的高通量数据开发的存储、处理和分析工具.另外,还注重介绍了单碱基水平的DNA甲基化检测技术,BS-Seq的测序原理、数据处理流程以及后续的分析工具.
DNA methylation is an important epigenetic modification and plays crucial roles in regulating gene expression, X chromosome activation and imprinting genes. Several pretreatment approaches of DNA methylation combined with next-generation sequencing have generated enormous high-throughput data. How to store, process and analyze large volume of raw data produced are in an urgent requirement. Here, we summarized three high-throughput sequencing technologies of DNA methylation and the relative bioinformatics tools. Furthermore, we highlight the principles and the methods of data processing of the combination of bisulfite treatment of DNA and high-throughput sequencing data (BS-seq).