近年来技术的进步使人们能够对人类细胞全基因组的表观基因组标记进行可重复的评估，目前大规模的国际努力正在进行中，以生成高分辨率的参考表观基因组图谱，从而加速对人类表观基因组信息的科学利用。由此生成的表观基因组图谱整合了不同正常细胞类型和疾病细胞类型中的详细 DNA 甲基化、组蛋白修饰、核小体占据以及编码与非编码 RNA 表达信息，旨在为诸多疾病提供新的认识，并发现控制这些疾病的新途径。
Recent technological advancements have enabled the reproducible assessment of epigenomic marks across the entire genome of human cells, and large-scale international efforts are now underway to generate high-resolution reference epigenome maps to accelerate the scientific exploitation of human epigenomic information. The epigenome maps thus generated integrate detailed DNA methylation, histone modification, nucleosome occupancy and coding and non-coding RNA expression in different normal and disease cell types, with the goal of providing new insights into many diseases, and the discovery of new means to control them.