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3D lineage-specific genome architecture links regulatory elements and non-coding disease variants to target gene promoters

Year: 2018
Type: conference-paper
Abstract: Human cells bears in its nucleus about 2 meters of DNA containing the genes that shape the being and the manner in which is packed regulates its function.Long-range physical interactions between regulatory elements and gene promoters play key roles in transcriptional regulation.The vast majority of interactions are uncharted, constituting a major missing link in understanding genome control.Genome-wide association studies have identified thousands of single nucleotide polymorphisms (SNPs) associated with common disorders but most of them expand non-coding regions, being difficult to be interpreted.Interestingly these non-coding SNPs cluster on DNA hypersensitivity sites, hallmark of
Language: English
Open Access status: green
OpenAlex ID: W2907727087
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