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MethPanel: a parallel pipeline and interactive analysis tool for multiplex bisulphite PCR sequencing to assess DNA methylation biomarker panels for disease detection
Bioinformatics ( IF 4.4 ) Pub Date : 2020-12-26 , DOI: 10.1093/bioinformatics/btaa1060
Phuc-Loi Luu 1, 2 , Phuc-Thinh Ong 3 , Tran Thai Huu Loc 4 , Dilys Lam 1 , Ruth Pidsley 1, 2 , Clare Stirzaker 1, 2 , Susan J Clark 1, 2
Affiliation  

DNA methylation patterns in a cell are associated with gene expression and the phenotype of a cell, including disease states. Bisulphite PCR sequencing is commonly used to assess the methylation profile of genomic regions between different cells. Here we have developed MethPanel, a computational pipeline with an interactive graphical interface to rapidly analyse multiplex bisulphite PCR sequencing data. MethPanel comprises a complete analysis workflow from genomic alignment to DNA methylation calling and supports an unlimited number of PCR amplicons and input samples. MethPanel offers important and unique features, such as calculation of a epipolymorphism score and bisulphite PCR bias correction capabilities, and is designed so that the methylation data from all samples can be processed in parallel. The outputs are automatically forwarded to a shinyApp for convenient display, visualisation and remotely sharing data with collaborators and clinicians.

中文翻译:

MethPanel:用于多重亚硫酸氢盐 PCR 测序的并行管道和交互式分析工具,用于评估用于疾病检测的 DNA 甲基化生物标志物组

细胞中的 DNA 甲基化模式与基因表达和细胞表型相关,包括疾病状态。亚硫酸氢盐 PCR 测序通常用于评估不同细胞之间基因组区域的甲基化概况。在这里,我们开发了 MethPanel,这是一种具有交互式图形界面的计算管道,可快速分析多重亚硫酸氢盐 PCR 测序数据。MethPanel 包括从基因组比对到 DNA 甲基化调用的完整分析工作流程,并支持无限数量的 PCR 扩增子和输入样本。MethPanel 提供重要且独特的功能,例如表观多态性评分的计算和亚硫酸氢盐 PCR 偏差校正功能,并且经过专门设计,可以并行处理所有样本的甲基化数据。
更新日期:2020-12-26
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