Florea Liliana
Department of Computer Science, George Washington University, Academic Center-Rm 714, Washington DC 20052, USA.
Brief Bioinform. 2006 Mar;7(1):55-69. doi: 10.1093/bib/bbk005.
The sequencing of the human genome and ensuing wave of data generation have brought new light upon the extent and importance of alternative splicing as an RNA regulatory mechanism. Alternative splicing could potentially explain the complexity of protein repertoire during evolution, and defects in the splicing mechanism are responsible for diseases as complex as cancer. Among the challenges that rise in light of these discoveries are cataloguing splice variation in the human and other eukaryotic genomes, and identifying and characterizing the splicing regulatory elements that control their expression. Bioinformatics efforts tackling these two questions are just at the beginning. This article is a survey of these methods.
人类基因组测序以及随之而来的数据浪潮，为可变剪接作为一种RNA调控机制的范围和重要性带来了新的认识。可变剪接可能解释了进化过程中蛋白质组的复杂性，而剪接机制的缺陷会导致如癌症等复杂疾病。鉴于这些发现而出现的挑战包括对人类和其他真核生物基因组中的剪接变异进行编目，以及识别和表征控制其表达的剪接调控元件。解决这两个问题的生物信息学工作才刚刚起步。本文对这些方法进行了综述。
