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DMAP: differential methylation analysis package for RRBS and WGBS data

机译:DMAP:RRBS和WGBS数据的差分甲基化分析软件包

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Motivation: The rapid development of high-throughput sequencing technologies has enabled epigeneticists to quantify DNA methylation on a massive scale. Progressive increase in sequencing capacity present challenges in terms of processing analysis and the interpretation of the large amount of data; investigating differential methylation between genome-scale data from multiple samples highlights this challenge. Results: We have developed a differential methylation analysis package (DMAP) to generate coverage-filtered reference methylomes and to identify differentially methylated regions across multiple samples from reduced representation bisulphite sequencing and whole genome bisulphite sequencing experiments. We introduce a novel fragment-based approach for investigating DNA methylation patterns for reduced representation bisulphite sequencing data. Further, DMAP provides the identity of gene and CpG features and distances to the differentially methylated regions in a format that is easily analyzed with limited bioinformatics knowledge. Availability and implementation: The software has been implemented in C and has been written to ensure portability between different platforms. The source code and documentation is freely available (DMAP: as compressed TAR archive folder) fromhttp://biochem. otago. ac. nz/research/databases-software/. Two test datasets are also available for download from the Web site. Test dataset 1 contains reads from chromosome 1 of a patient and a control, which is used for comparative analysis in the current article. Test dataset 2 contains reads from a part of chromosome 21 of three disease and three control samples for testing the operation of DMAP, especially for the analysis of variance. Example commands for the analyses are included
机译:动机:高通量测序技术的迅速发展使表观遗传学家能够大规模量化DNA甲基化。测序能力的逐步提高在处理分析和大量数据的解释方面提出了挑战。对来自多个样品的基因组规模数据之间差异甲基化的研究突显了这一挑战。结果:我们已经开发了差异甲基化分析软件包(DMAP),以生成覆盖过滤的参考甲基化组,并通过减少代表性的亚硫酸氢盐测序和全基因组亚硫酸氢盐测序实验,鉴定多个样品中的差异甲基化区域。我们引入了一种新颖的基于片段的方法来研究DNA甲基化模式,以减少代表性的亚硫酸氢盐测序数据。此外,DMAP以有限的生物信息学知识容易分析的格式提供了基因和CpG特征的标识以及与差异甲基化区域的距离。可用性和实现:该软件已用C实现,并已编写以确保不同平台之间的可移植性。可从http:// biochem免费获得源代码和文档(DMAP:作为压缩的TAR存档文件夹)。 otago。交流nz / research / databases-software /。也可以从网站上下载两个测试数据集。测试数据集1包含来自患者1号染色体和对照的读数,在当前文章中用于比较分析。测试数据集2包含来自三种疾病的21号染色体一部分的读数和三个对照样品,用于测试DMAP的操作,尤其是用于方差分析。包括用于分析的示例命令

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