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首页> 外文期刊>BMC Bioinformatics >BSPAT: a fast online tool for DNA methylation co-occurrence pattern analysis based on high-throughput bisulfite sequencing data
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BSPAT: a fast online tool for DNA methylation co-occurrence pattern analysis based on high-throughput bisulfite sequencing data

机译:BSPAT:基于高通量亚硫酸氢盐测序数据的DNA甲基化共现模式分析的快速在线工具

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摘要

Background Bisulfite sequencing is one of the most widely used technologies in analyzing DNA methylation patterns, which are important in understanding and characterizing the mechanism of DNA methylation and its functions in disease development. Efficient and user-friendly tools are critical in carrying out such analysis on high-throughput bisulfite sequencing data. However, existing tools are either not scalable well, or inadequate in providing visualization and other desirable functionalities. Results In order to handle ultra large sequencing data and to provide additional functions and features, we have developed BSPAT, a fast online tool for bisulfite sequencing pattern analysis. With a user-friendly web interface, BSPAT seamlessly integrates read mapping/quality control/methylation calling with methylation pattern generation and visualization. BSPAT has the following important features: 1) instead of using multiple/pairwise sequence alignment methods, BSPAT adopts an efficient and widely used sequence mapping tool to provide fast alignment of sequence reads; 2) BSPAT summarizes and visualizes DNA methylation co-occurrence patterns at a single nucleotide level, which provide valuable information in understanding the mechanism and regulation of DNA methylation; 3) based on methylation co-occurrence patterns, BSPAT can automatically detect potential allele-specific methylation (ASM) patterns, which can greatly enhance the detection and analysis of ASM patterns; 4) by linking directly with other popular databases and tools, BSPAT allows users to perform integrative analysis of methylation patterns with other genomic features together within regions of interest. Conclusion By utilizing a real bisulfite sequencing dataset generated from prostate cancer cell lines, we have shown that BSPAT is highly efficient. It has also reported some interesting methylation co-occurrence patterns and a potential allele-specific methylation case. In conclusion, BSPAT is an efficient and convenient tool for high-throughput bisulfite sequencing data analysis that can be broadly used.
机译:背景技术亚硫酸氢盐测序是分析DNA甲基化模式中最广泛使用的技术之一,对理解和表征DNA甲基化的机制及其在疾病发展中的功能非常重要。有效且用户友好的工具对于对高通量亚硫酸氢盐测序数据进行此类分析至关重要。但是,现有工具要么扩展性不佳,要么无法提供可视化和其他所需功能。结果为了处理超大型测序数据并提供其他功能,我们开发了BSPAT,这是一种用于亚硫酸氢盐测序模式分析的快速在线工具。通过用户友好的Web界面,BSPAT无缝集成了读取映射/质量控制/甲基化调用与甲基化模式生成和可视化功能。 BSPAT具有以下重要特征:1)BSPAT取代了使用多重/成对序列比对方法,采用了一种高效且广泛使用的序列作图工具来提供序列读数的快速比对; 2)BSPAT在单个核苷酸水平上总结并可视化了DNA甲基化的共现模式,为理解DNA甲基化的机理和调控提供了有价值的信息; 3)BSPAT基于甲基化共现模式,可以自动检测潜在的等位基因特异性甲基化(ASM)模式,可以大大增强ASM模式的检测和分析能力; 4)通过直接与其他流行的数据库和工具链接,BSPAT允许用户在目标区域内一起对甲基化模式与其他基因组特征进行综合分析。结论通过利用从前列腺癌细胞系生成的真实亚硫酸氢盐测序数据集,我们已经证明BSPAT是高效的。它还报道了一些有趣的甲基化共现模式和一个潜在的等位基因特异性甲基化病例。总之,BSPAT是一种高效且方便的工具,可广泛使用于高通量亚硫酸氢盐测序数据分析。

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