表观遗传学是指基于非基因序列改变所致基因表达水平的变化, 如DNA甲基化和组蛋白修饰等; 表观基因组学则是在基因组水平上对表观遗传学改变的研究。DNA甲基化已经成为表观遗传学和表观基因组学的重要研究内容, 人类表观基因组计划的最终目标是绘制出人类基因组中甲基化可变位点图谱。随着研究的不断深入, 各种研究方法被开发出来以满足不同类型研究的需要。文章主要介绍目前已有的表观基因组学研究方法, 并对其进行简要分析和总结。

Epigenetics refers to the heritable changes in gene expression without any alteration in DNA sequence, including DNA methylation, histone modification and chromatin conformation. Epigenomics deals with global analyses of epigenetic changes across the entire genome. In the fields of epigenetics and epigenomics, DNA methylation has been drawn a special attention because of its close correlation to human development and carcinogenesis. In recent years, a variety of methods have been developed to study DNA methylation and other epigenetic modification. This review introduces and compares the new methods for epigenomics study and provides useful information for the researcher in this area.