Detection of orthologous exons and isoforms using EGIO.

Detection of orthologous exons and isoforms using EGIO.
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DOI:
10.1093/bioinformatics/btac548
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发表时间:
2022-09-30
期刊:
Bioinformatics (Oxford, England)
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选择性剪接是产生转录组和表型多样性的重要机制。现有的方法检测orthopathy异构体的能力有限。我们开发了一种新的方法,EGIO,检测orthopathy外显子和orthopathy异构体从两个物种。EGIO使用独特的外显子区域构建外显子组,在此过程中使用动态规划策略进行外显子比对。EGIO可以覆盖直链淀粉基因的所有编码外显子。EGIO和ExTraMapper的比较表明,EGIO可以检测到更多的具有保守序列和外显子结构的正构异构体。我们应用EGIO比较人类和黑猩猩额叶皮质中表达的蛋白质编码亚型,并确定了6912个表达人类独特亚型的基因。出乎意料的是,更多的人类独特的异构体比人类和黑猩猩之间的保守检测。EGIO的源代码和测试数据可在https://github.com/wu-lab-egio/EGIO上获得。 补充数据可在Bioinformatics在线获得。
Alternative splicing is an important mechanism to generate transcriptomic and phenotypic diversity. Existing methods have limited power to detect orthologous isoforms. We develop a new method, EGIO, to detect orthologous exons and orthologous isoforms from two species. EGIO uses unique exonic regions to construct exon groups, in which process dynamic programming strategy is used to do exon alignment. EGIO could cover all the coding exons within orthologous genes. A comparison between EGIO and ExTraMapper shows that EGIO could detect more orthologous isoforms with conserved sequence and exon structures. We apply EGIO to compare human and chimpanzee protein-coding isoforms expressed in the frontal cortex and identify 6912 genes that express human unique isoforms. Unexpectedly, more human unique isoforms are detected than those conserved between humans and chimpanzees. Source code and test data of EGIO are available at https://github.com/wu-lab-egio/EGIO. Supplementary data are available at Bioinformatics online.
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