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Toward a comprehensive catalog of regulatory elements.

Authors :
Fan, Kaili
Pfister, Edith
Weng, Zhiping
Source :
Human Genetics; Aug2023, Vol. 142 Issue 8, p1091-1111, 21p
Publication Year :
2023

Abstract

Regulatory elements are the genomic regions that interact with transcription factors to control cell-type-specific gene expression in different cellular environments. A precise and complete catalog of functional elements encoded by the human genome is key to understanding mammalian gene regulation. Here, we review the current state of regulatory element annotation. We first provide an overview of assays for characterizing functional elements, including genome, epigenome, transcriptome, three-dimensional chromatin interaction, and functional validation assays. We then discuss computational methods for defining regulatory elements, including peak-calling and other statistical modeling methods. Finally, we introduce several high-quality lists of regulatory element annotations and suggest potential future directions. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03406717
Volume :
142
Issue :
8
Database :
Complementary Index
Journal :
Human Genetics
Publication Type :
Academic Journal
Accession number :
170403124
Full Text :
https://doi.org/10.1007/s00439-023-02519-3