Gene regulatory networks underlie biological function and cellular physiology. Alternative splicing (AS) is a fundamental step in gene regulatory networks and plays a key role in development and disease. In addition to the identification of aberrant AS events, an increasing number of studies are focusing on molecular determinants of AS, including genetic and epigenetic regulators. We review here recent efforts to identify various deregulated AS events as well as their molecular determinants that alter biological functions, and discuss clinical features of AS and their druggable potential.

中文翻译：

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遗传和表观遗传变异对基因调控网络的扰动。

基因调控网络是生物学功能和细胞生理学的基础。选择性剪接（AS）是基因调控网络中的基本步骤，并且在发育和疾病中起关键作用。除了识别异常的AS事件外，越来越多的研究集中在AS的分子决定因素上，包括遗传和表观遗传调控因子。我们在这里回顾了最近的努力，以确定各种失控的AS事件及其改变生物学功能的分子决定因素，并讨论了AS的临床特征及其可药用潜力。