Green Christopher J, Gazzara Matthew R, Barash Yoseph
Department of Genetics, Perelman School of Medicine, Philadelphia, PA, USA.
Department of Biochemistry and Biophysics, Perelman School of Medicine, Philadelphia, PA, USA.
Bioinformatics. 2018 Jan 15;34(2):300-302. doi: 10.1093/bioinformatics/btx565.
Analysis of RNA sequencing (RNA-Seq) data have highlighted the fact that most genes undergo alternative splicing (AS) and that these patterns are tightly regulated. Many of these events are complex, resulting in numerous possible isoforms that quickly become difficult to visualize, interpret and experimentally validate. To address these challenges we developed MAJIQ-SPEL, a web-tool that takes as input local splicing variations (LSVs) quantified from RNA-Seq data and provides users with visualization and quantification of gene isoforms associated with those. Importantly, MAJIQ-SPEL is able to handle both classical (binary) and complex, non-binary, splicing variations. Using a matching primer design algorithm it also suggests to users possible primers for experimental validation by RT-PCR and displays those, along with the matching protein domains affected by the LSV, on UCSC Genome Browser for further downstream analysis.
Program and code will be available at http://majiq.biociphers.org/majiq-spel.
Supplementary data are available at Bioinformatics online.
RNA测序(RNA-Seq)数据分析突出了这样一个事实,即大多数基因会发生可变剪接(AS),并且这些模式受到严格调控。其中许多事件很复杂,会产生大量可能的异构体,很快就难以可视化、解释和通过实验验证。为应对这些挑战,我们开发了MAJIQ-SPEL,这是一种网络工具,它将从RNA-Seq数据中量化的局部剪接变异(LSV)作为输入,并为用户提供与这些变异相关的基因异构体的可视化和量化。重要的是,MAJIQ-SPEL能够处理经典(二元)和复杂的非二元剪接变异。它使用匹配引物设计算法,还向用户推荐用于通过RT-PCR进行实验验证的可能引物,并在UCSC基因组浏览器上显示这些引物以及受LSV影响的匹配蛋白质结构域,以便进行进一步的下游分析。
程序和代码可在http://majiq.biociphers.org/majiq-spel获取。
补充数据可在《生物信息学》在线获取。