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DMRFusion: A differentially methylated region detection tool based on the ranked fusion method

机译:DMRFusion:基于排序融合方法的差异甲基化区域检测工具

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摘要

DNA methylation is an important epigenetic modification involved in many biological processes and diseases. Computational analysis of differentially methylated regions (DMRs) could explore the underlying reasons of methylation. DMRFusion is presented as a useful tool for comprehensive DNA methylation analysis of DMRs on methylation sequencing data. This tool is designed base on the integration of several ranking methods; Information gain, Between versus within Class scatter ratio, Fisher ratio, Z-score and Welch's t-test. In this study, DMRFusion on reduced representation bisulfite sequencing (RRBS) data in chronic lymphocytic leukemia cancer displayed 30 nominated regions and CpG sites with a maximum methylation difference detected in the hypermethylation DMRs. We realized that DMRFusion is able to process methylation sequencing data in an efficient and accurate manner and to provide annotation and visualization for DMRs with high fold difference score (p-value and FDR??0.05 and type I error: 0.04).
机译:DNA甲基化是涉及许多生物学过程和疾病的重要表观遗传修饰。差异甲基化区域(DMR)的计算分析可以探讨甲基化的根本原因。 DMRFusion被认为是对甲基化测序数据进行DMR全面DNA甲基化分析的有用工具。该工具是基于多种排名方法的集成而设计的。信息增益,类间散布率与类内散布率,费舍尔比,Z分数和韦尔奇t检验。在这项研究中,DMRFusion在慢性淋巴细胞性白血病癌症中的减少代表性亚硫酸氢盐测序(RRBS)数据上显示了30个指定区域和CpG位点,在高甲基化DMR中检测到最大的甲基化差异。我们意识到,DMRFusion能够高效,准确地处理甲基化测序数据,并为具有高倍差异得分(p值和FDR?<?0.05,I型错误:0.04)的DMR提供注释和可视化。

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