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Methy-Pipe: An Integrated Bioinformatics Pipeline for Whole Genome Bisulfite Sequencing Data Analysis

机译:Methy-Pipe:用于全基因组亚硫酸氢盐测序数据分析的集成生物信息学管道

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摘要

DNA methylation, one of the most important epigenetic modifications, plays a crucial role in various biological processes. The level of DNA methylation can be measured using whole-genome bisulfite sequencing at single base resolution. However, until now, there is a paucity of publicly available software for carrying out integrated methylation data analysis. In this study, we implemented Methy-Pipe, which not only fulfills the core data analysis requirements (e.g. sequence alignment, differential methylation analysis, etc.) but also provides useful tools for methylation data annotation and visualization. Specifically, it uses Burrow-Wheeler Transform (BWT) algorithm to directly align bisulfite sequencing reads to a reference genome and implements a novel sliding window based approach with statistical methods for the identification of differentially methylated regions (DMRs). The capability of processing data parallelly allows it to outperform a number of other bisulfite alignment software packages. To demonstrate its utility and performance, we applied it to both real and simulated bisulfite sequencing datasets. The results indicate that Methy-Pipe can accurately estimate methylation densities, identify DMRs and provide a variety of utility programs for downstream methylation data analysis. In summary, Methy-Pipe is a useful pipeline that can process whole genome bisulfite sequencing data in an efficient, accurate, and user-friendly manner. Software and test dataset are available at .
机译:DNA甲基化是最重要的表观遗传修饰之一,在各种生物学过程中都起着至关重要的作用。可以使用全基因组亚硫酸氢盐测序以单碱基分辨率测量DNA甲基化水平。但是,到目前为止,还没有足够的公开软件来进行综合甲基化数据分析。在这项研究中,我们实施了Methy-Pipe,它不仅满足核心数据分析要求(例如序列比对,差异甲基化分析等),而且还提供了用于甲基化数据注释和可视化的有用工具。具体而言,它使用Burrow-Wheeler变换(BWT)算法将亚硫酸氢盐测序读段直接与参考基因组比对,并实现了一种新的基于滑动窗口的方法,并采用了统计方法来识别差异甲基化区域(DMR)。并行处理数据的能力使其胜过许多其他的亚硫酸氢盐校准软件包。为了证明其实用性和性能,我们将其应用于真实的和模拟的亚硫酸氢盐测序数据集。结果表明,Methy-Pipe可以准确估计甲基化密度,识别DMR并为下游甲基化数据分析提供各种实用程序。总之,Methy-Pipe是有用的管道,可以以高效,准确和用户友好的方式处理整个基因组亚硫酸氢盐测序数据。可以从下载软件和测试数据集。

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