CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria.
Nat Rev Genet. 2012 Oct;13(10):705-19. doi: 10.1038/nrg3273.
DNA methylation is an epigenetic mark that has suspected regulatory roles in a broad range of biological processes and diseases. The technology is now available for studying DNA methylation genome-wide, at a high resolution and in a large number of samples. This Review discusses relevant concepts, computational methods and software tools for analysing and interpreting DNA methylation data. It focuses not only on the bioinformatic challenges of large epigenome-mapping projects and epigenome-wide association studies but also highlights software tools that make genome-wide DNA methylation mapping more accessible for laboratories with limited bioinformatics experience.
DNA 甲基化是一种表观遗传标记，被怀疑在广泛的生物过程和疾病中具有调节作用。该技术现在可用于在高通量、高分辨率和大量样本中研究全基因组 DNA 甲基化。本综述讨论了分析和解释 DNA 甲基化数据的相关概念、计算方法和软件工具。它不仅关注大规模表观基因组图谱绘制项目和全基因组关联研究中的生物信息学挑战，还强调了使基因组范围的 DNA 甲基化图谱绘制更容易为具有有限生物信息学经验的实验室所接受的软件工具。
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