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Alternative Splicing Detection Tool—a novel PERL algorithm for sensitive detection of splicing events based on next-generation sequencing data analysis

机译:替代剪接检测工具-一种基于下一代测序数据分析的新型PERL算法用于敏感检测剪接事件

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摘要

Next-generation sequencing (NGS) can provide researchers with high impact information regarding alternative splice variants or transcript identifications. However, the enormous amount of data acquired from NGS platforms make the analysis of alternative splicing events hard to accomplish. For this reason, we designed the “Alternative Splicing Detection Tool” (ASDT), an algorithm that is capable of identifying alternative splicing events, including novel ones from high-throughput NGS data. ASDT is available as a PERL script at and can be executed on any system with PERL installed. In addition to the detection of annotated and novel alternative splicing events from high-throughput NGS data, ASDT can also analyze the intronic regions of genes, thus enabling the detection of novel cryptic exons residing in annotated introns, extensions of previously annotated exons, or even intron retentions. Consequently, ASDT demonstrates many innovative and unique features that can efficiently contribute to alternative splicing analysis of NGS data.
机译:下一代测序(NGS)可以为研究人员提供有关替代剪接变体或转录本鉴定的重要信息。但是,从NGS平台获取的大量数据使对替代剪接事件的分析难以完成。因此,我们设计了“替代剪接检测工具”(ASDT),该算法能够识别替代剪接事件,包括来自高通量NGS数据的新颖剪接事件。 ASDT可作为PERL脚本在以下位置获得,并且可以在安装了PERL的任何系统上执行。除了从高通量NGS数据中检测带注释的和新颖的可变剪接事件外,ASDT还可以分析基因的内含子区域,从而能够检测存在于带注释的内含子中的新型隐性外显子,先前带注释的外显子的延伸,甚至内含子保留。因此,ASDT展示了许多创新和独特的功能,可以有效地促进NGS数据的替代剪接分析。

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