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.
Bibliographical noteKAUST Repository Item: Exported on 2023-09-30
Acknowledged KAUST grant number(s): FCC/1/1976-44-01, FCC/1/1976-45-01, REI/1/4940-01-01, REI/1/5202-01-01, RGC/3/4816-01-01
Acknowledgements: This work was supported by the King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research (OSR) under award numbers FCC/1/1976-44-01, FCC/1/1976-45-01, REI/1/5202-01-01, REI/1/4940-01-01, and RGC/3/4816-01-01, and the National Natural Science Foundation of China under Grant: No.62002388.