RNA剪接
选择性拼接
计算生物学
计算机科学
疾病
利用
机制(生物学)
生物
生物信息学
遗传学
基因
医学
外显子
核糖核酸
哲学
计算机安全
认识论
病理
作者
Jiashu Liu,Cui-Xiang Lin,Xiaoqi Zhang,Zongxuan Li,Weilai Huang,Jin Liu,Yuanfang Guan,Hong-Dong Li
摘要
Abstract Alternative splicing (AS) is a key transcriptional regulation pathway. Recent studies have shown that AS events are associated with the occurrence of complex diseases. Various computational approaches have been developed for the detection of disease-associated AS events. In this review, we first describe the metrics used for quantitative characterization of AS events. Second, we review and discuss the three types of methods for detecting disease-associated splicing events, which are differential splicing analysis, aberrant splicing detection and splicing-related network analysis. Third, to further exploit the genetic mechanism of disease-associated AS events, we describe the methods for detecting genetic variants that potentially regulate splicing. For each type of methods, we conducted experimental comparison to illustrate their performance. Finally, we discuss the limitations of these methods and point out potential ways to address them. We anticipate that this review provides a systematic understanding of computational approaches for the analysis of disease-associated splicing.
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