Repetitive DNA sequence detection and its role in the human genome

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Abstract

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.
Original languageEnglish (US)
JournalCommunications Biology
Volume6
Issue number1
DOIs
StatePublished - Sep 19 2023

Bibliographical note

KAUST 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.

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