斯阳明，邢永强，蔡禄
（内蒙古科技大学生命科学与技术学院，包头 014010）
关键词：可变剪接；RNA-seq；Hisat2；MISO；肝癌
中图分类号: R318.04 文献标识码: A
摘要：RNA-seq高通量测序广泛用于全基因组范围寻找新基因及剪接变体。根据RNA-seq数据的高通量及复杂度的特点，选择稳定、快速和准确的数据分析软件是必要的。Hisat2和MISO是免费开源软件，可分析高通量RNA-seq测序数据剪接事件及其差异。本工作通过肝癌和对照组的比较确定了11487个差异剪接事件，包括6577个外显子跳跃事件，2447个可变5’和可变3’事件，1683 个互斥外显子事件和780 个内含子保留事件。差异剪接事件可注释到2797个基因。疾病关联和KEGG疾病通路注释分析发现这些基因大多与免疫和癌症相关。8个注释在癌症分类的基因与肝癌有关，其中COMT，CYP2D6，GSTP1，MLH1基因的蛋白互作关系可能与肝癌相关。
Differential splicing event analysis of liver tumor-educated blood platelets RNA-seq data with Hisat2 and MISOSI
Yang-ming, XING Yong-qiang, CAI Lu*
（ Life Science and Technology School , Inner Mongolia University of Science and Technology, Baotou 014010, China）
Keywords: alternative splicing; RNA-seq; Hisat2; MISO; liver cancer
Abstract: Ongoing RNA-Seq technology can reveal new genes and splice variants. The volume and complexity of RNA-seq data necessitate scalable, fast and mathematically principled analysis software. Hisat2 and MISO are free, open-source software tools for the discovery and differential analysis of splicing events. 11487 differentially expressed splicing events were detected through comparison between healthy control samples and liver cancer samples, among which, there were 6577 skipped exons events, 2447 alternative 5’/3’ splice sites events, 1683 mutually exclusive exons events and 780 retained introns events. The events were annotated as 2797 genes. It was discovered via Disease Associations and Kyoto Encyclopedia of Genes and Genomes diseases pathway analysis that most genes were related with immunity and cancer process. A total of 8 genes were associated with liver cancer. The liver cancer may be regulated by the protein-protein interactions among four genes (COMT, CYP2D6, GSTP1, MLH1).