DNA甲基化差异模式识别方法综述

Survey of DNA differentially methylated patterns identification

目前,微阵列芯片技术和重亚硫酸氢盐测序技术贡献了大量DNA甲基化实验数据,基于不同数据产生了众多识别差异甲基化位点及差异甲基化区域的方法。为了对DNA甲基化差异模式识别方法进行梳理,首先介绍了DNA甲基化研究现状,包括DNA甲基化检测方法和数据类型,以及两种DNA甲基化差异模式;接着详细阐述了芯片数据的差异甲基化位点和差异甲基化区域的识别方法,并介绍了基于八种不同算法原理的测序数据的差异甲基化模式识别方法,重点阐述了各种算法的原理、应用场景以及算法的优点和局限性;最后指出了现阶段DNA甲基化差异模式识别存在的问题和未来可能的发展趋势。

At present,microarray chip technology and sodium bisulfite sequencing technology have contributed a large amount of DNA methylation data.Based on different data type,there have been many methods to identify differentially methylated locis and regions.To sort out the methods of differentially methylated pattern identification,this paper firstly introduced the research status of DNA methylation,including detection methods and data types of DNA methylation,as well as two kinds of differentially methylated patterns.Then the paper elaborated on the identification methods of differentially methylated locis and regions on the chip data,and the identification methods of differentially methylated patterns on the sequencing data based on eight different algorithm principles.This paper focused on the principles,application scenarios,advantages and limitations of these algorithms.Finally,the paper pointed out the problems of differentially methylated pattern identification and possible future development trends.