Genetic variants associated with common diseases are usually located in noncoding parts of the human genome. Delineation of the full repertoire of functional noncoding elements, together with efficient methods for probing their biological roles, is therefore of crucial importance. Over the past decade, DNA accessibility and various epigenetic modifications have been associated with regulatory functions. Mapping these features across the genome has enabled researchers to begin to document the full complement of putative regulatory elements. High-throughput reporter assays to probe the functions of regulatory regions have also been developed but these methods separate putative regulatory elements from the chromosome so that any effects of chromatin context and long-range regulatory interactions are lost. Definitive assignment of function(s) to putative cis-regulatory elements requires perturbation of these elements. Genome-editing technologies are now transforming our ability to perturb regulatory elements across entire genomes. Interpretation of high-throughput genetic screens that incorporate genome editors might enable the construction of an unbiased map of functional noncoding elements in the human genome.

中文翻译：

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人类基因组中非编码调控DNA的表征。

与常见疾病相关的遗传变异通常位于人类基因组的非编码部分。因此，描述功能性非编码元件的全部组成以及探测其生物学作用的有效方法至关重要。在过去的十年中，DNA的可及性和各种表观遗传学修饰已与调节功能相关联。将这些特征映射到整个基因组已使研究人员能够开始记录推定的调控元件的完整补充。还已经开发出高通量的记者检测方法来探测调控区的功能，但是这些方法将假定的调控元件与染色体分离开，从而使染色质上下文和远程调控相互作用的任何作用都丧失了。将功能明确分配给假定的顺式调控元件需要扰动这些元件。基因组编辑技术现在正在改变我们扰动整个基因组调控元件的能力。结合基因组编辑器的高通量遗传筛选的解释可能使人类基因组中功能非编码元件的无偏图得以构建。