摘要
随着高通量生物测序技术的产生及快速发展,从转录组高通量测序数据(RNA-Seq数据)中准确地识别选择性剪接事件成为了当前生物信息学研究的一个热点课题。识别选择性剪接事件对研究基因的功能、蛋白质结构的多样性、细胞的分化、物种的进化、以及疾病的产生机制具有重要的意义。在人类基因组中最主要的选择性剪接事件是外显子跳跃事件(>40%)。本文综述了基于RNA-Seq数据识别外显子跳跃事件的识别方法,并对常用的识别方法进行了总结分析。
With the rapid development of next-generation sequencing technology,alternative splicing（ AS） event detection from whole transcriptome shotgun sequencing（ RNA-Seq） data is a popular research topic in biology. Identification AS events can help biologists to study to gene function,protein structure,cellular diversity,species evolution,and human disease. Exon skipping（ ES） event is a major AS events in human genome（ 40%）. This paper reviews the methods on ES events detection from RNA-Seq data,and provides an overview that could serve as an entry point for users who need to decide on a suitable tool for ES event detection.
出处
《智能计算机与应用》
2016年第2期1-4,共4页
Intelligent Computer and Applications
