重复 DNA 序列检测及其在人类基因组中的作用。
Repetitive DNA sequence detection and its role in the human genome.
机构信息
Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955, Saudi Arabia.
Department of Endocrinology, Yichang Central People's Hospital, The First College of Clinical Medical Science, China Three Gorges University, 443000, Yichang, P.R. China.
出版信息
Commun Biol. 2023 Sep 19;6(1):954. doi: 10.1038/s42003-023-05322-y.
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and regulating gene expression. In this review, we summarized the definition, arrangement, and structural characteristics of repeats. Besides, we introduced diverse biological functions of repeats and reviewed existing methods for automatic repeat detection, classification, and masking. Finally, we analyzed the type, structure, and regulation of repeats in the human genome and their role in the induction of complex diseases. We believe that this review will facilitate a comprehensive understanding of repeats and provide guidance for repeat annotation and in-depth exploration of its association with human diseases.
重复 DNA 序列在推动进化、诱导变异和调控基因表达方面发挥着关键作用。在这篇综述中，我们总结了重复序列的定义、排列和结构特征。此外，我们介绍了重复序列的多种生物学功能，并回顾了现有的自动重复检测、分类和屏蔽方法。最后，我们分析了人类基因组中重复序列的类型、结构和调控及其在复杂疾病诱导中的作用。我们相信，这篇综述将有助于全面了解重复序列，并为重复序列的注释以及深入探索其与人类疾病的关系提供指导。
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