Martin Tiphaine C, Yet Idil, Tsai Pei-Chien, Bell Jordana T
Department of Twin Research and Genetic Epidemiology, St Thomas' Hospital Campus, King's College London, Westminster Bridge Road, London, UK.
BMC Bioinformatics. 2015 Apr 28;16(1):131. doi: 10.1186/s12859-015-0568-2.
Epigenome-wide association scans (EWAS) are an increasingly powerful and widely-used approach to assess the role of epigenetic variation in human complex traits. However, this rapidly emerging field lacks dedicated visualisation tools that can display features specific to epigenetic datasets.
We developed coMET, an R package and online tool for visualisation of EWAS results in a genomic region of interest. coMET generates a regional plot of epigenetic-phenotype association results and the estimated DNA methylation correlation between CpG sites (co-methylation), with further options to visualise genomic annotations based on ENCODE data, gene tracks, reference CpG-sites, and user-defined features. The tool can be used to display phenotype association signals and correlation patterns of microarray or sequencing-based DNA methylation data, such as Illumina Infinium 450k, WGBS, or MeDIP-seq, as well as other types of genomic data, such as gene expression profiles. The software is available as a user-friendly online tool from http://epigen.kcl.ac.uk/comet and as an R Bioconductor package. Source code, examples, and full documentation are also available from GitHub.
Our new software allows visualisation of EWAS results with functional genomic annotations and with estimation of co-methylation patterns. coMET is available to a wide audience as an online tool and R package, and can be a valuable resource to interpret results in the fast growing field of epigenetics. The software is designed for epigenetic data, but can also be applied to genomic and functional genomic datasets in any species.
全表观基因组关联扫描(EWAS)是一种日益强大且广泛应用的方法,用于评估表观遗传变异在人类复杂性状中的作用。然而,这个迅速兴起的领域缺乏专门的可视化工具来展示表观遗传数据集特有的特征。
我们开发了coMET,这是一个用于在感兴趣的基因组区域可视化EWAS结果的R包和在线工具。coMET生成表观遗传-表型关联结果的区域图以及CpG位点之间估计的DNA甲基化相关性(共甲基化),并提供进一步的选项以基于ENCODE数据、基因轨迹、参考CpG位点和用户定义特征来可视化基因组注释。该工具可用于展示微阵列或基于测序的DNA甲基化数据(如Illumina Infinium 450k、全基因组亚硫酸氢盐测序或甲基化DNA免疫沉淀测序)以及其他类型的基因组数据(如基因表达谱)的表型关联信号和相关模式。该软件可从http://epigen.kcl.ac.uk/comet作为用户友好的在线工具获取,也可作为R Bioconductor包获取。源代码、示例和完整文档也可从GitHub获取。
我们的新软件允许通过功能基因组注释可视化EWAS结果并估计共甲基化模式。coMET作为在线工具和R包可供广大用户使用,并且在快速发展的表观遗传学领域解释结果时可能是一个有价值的资源。该软件专为表观遗传数据设计,但也可应用于任何物种的基因组和功能基因组数据集。