Matches in SemOpenAlex for { <https://semopenalex.org/work/W4306943572> ?p ?o ?g. }
- W4306943572 abstract "Genome sequencing has revealed over 300 million genetic variations in human populations. Over 90% of variants are single nucleotide polymorphisms (SNPs), the remainder include short deletions or insertions, and small numbers of structural variants. Hundreds of thousands of these variants have been associated with specific phenotypic traits and diseases through genome wide association studies which link significant differences in variant frequencies with specific phenotypes among large groups of individuals. Only 5% of disease-associated SNPs are located in gene coding sequences, with the potential to disrupt gene expression or alter of the function of encoded proteins. The remaining 95% of disease-associated SNPs are located in non-coding DNA sequences which make up 98% of the genome. The role of non-coding, disease-associated SNPs, many of which are located at considerable distances from any gene, was at first a mystery until the discovery that gene promoters regularly interact with distal regulatory elements to control gene expression. Disease-associated SNPs are enriched at the millions of gene regulatory elements that are dispersed throughout the non-coding sequences of the genome, suggesting they function as gene regulation variants. Assigning specific regulatory elements to the genes they control is not straightforward since they can be millions of base pairs apart. In this review we describe how understanding 3D genome organization can identify specific interactions between gene promoters and distal regulatory elements and how 3D genomics can link disease-associated SNPs to their target genes. Understanding which gene or genes contribute to a specific disease is the first step in designing rational therapeutic interventions." @default.
- W4306943572 created "2022-10-21" @default.
- W4306943572 creator A5011032270 @default.
- W4306943572 creator A5049273208 @default.
- W4306943572 creator A5080387343 @default.
- W4306943572 creator A5089398544 @default.
- W4306943572 creator A5090153306 @default.
- W4306943572 date "2022-10-20" @default.
- W4306943572 modified "2023-10-01" @default.
- W4306943572 title "3D genome organization links non-coding disease-associated variants to genes" @default.
- W4306943572 cites W1531821806 @default.
- W4306943572 cites W1605145036 @default.
- W4306943572 cites W1660678623 @default.
- W4306943572 cites W1776547251 @default.
- W4306943572 cites W1831401007 @default.
- W4306943572 cites W1859117663 @default.
- W4306943572 cites W1970831058 @default.
- W4306943572 cites W1973062929 @default.
- W4306943572 cites W1974223852 @default.
- W4306943572 cites W1975542854 @default.
- W4306943572 cites W1977437520 @default.
- W4306943572 cites W1980786543 @default.
- W4306943572 cites W1981030303 @default.
- W4306943572 cites W1985621639 @default.
- W4306943572 cites W1991149014 @default.
- W4306943572 cites W1993616000 @default.
- W4306943572 cites W2006543991 @default.
- W4306943572 cites W2008227324 @default.
- W4306943572 cites W2009576540 @default.
- W4306943572 cites W2012697072 @default.
- W4306943572 cites W2018838463 @default.
- W4306943572 cites W2020977773 @default.
- W4306943572 cites W2029530775 @default.
- W4306943572 cites W2042930277 @default.
- W4306943572 cites W2051314902 @default.
- W4306943572 cites W2055426186 @default.
- W4306943572 cites W2056198580 @default.
- W4306943572 cites W2065006553 @default.
- W4306943572 cites W2070021921 @default.
- W4306943572 cites W2070659891 @default.
- W4306943572 cites W2073026107 @default.
- W4306943572 cites W2084160423 @default.
- W4306943572 cites W2090037139 @default.
- W4306943572 cites W2090632681 @default.
- W4306943572 cites W2091417752 @default.
- W4306943572 cites W2101505979 @default.
- W4306943572 cites W2104549677 @default.
- W4306943572 cites W2113784410 @default.
- W4306943572 cites W2115464628 @default.
- W4306943572 cites W2119279196 @default.
- W4306943572 cites W2122732537 @default.
- W4306943572 cites W2127922938 @default.
- W4306943572 cites W2133009026 @default.
- W4306943572 cites W2134783591 @default.
- W4306943572 cites W2134907628 @default.
- W4306943572 cites W2145144631 @default.
- W4306943572 cites W2147215182 @default.
- W4306943572 cites W2152605077 @default.
- W4306943572 cites W2152791321 @default.
- W4306943572 cites W2154746182 @default.
- W4306943572 cites W2158053354 @default.
- W4306943572 cites W2160541854 @default.
- W4306943572 cites W2161212572 @default.
- W4306943572 cites W2167776710 @default.
- W4306943572 cites W2168909179 @default.
- W4306943572 cites W2173155483 @default.
- W4306943572 cites W2182733429 @default.
- W4306943572 cites W2185693210 @default.
- W4306943572 cites W2243544746 @default.
- W4306943572 cites W2259938310 @default.
- W4306943572 cites W2267962174 @default.
- W4306943572 cites W2297334215 @default.
- W4306943572 cites W2325112174 @default.
- W4306943572 cites W2401568148 @default.
- W4306943572 cites W2510973425 @default.
- W4306943572 cites W2511515754 @default.
- W4306943572 cites W2523285811 @default.
- W4306943572 cites W2528263447 @default.
- W4306943572 cites W2553123256 @default.
- W4306943572 cites W2553838260 @default.
- W4306943572 cites W2555614465 @default.
- W4306943572 cites W2556805640 @default.
- W4306943572 cites W2559847019 @default.
- W4306943572 cites W2559911833 @default.
- W4306943572 cites W2594764564 @default.
- W4306943572 cites W2602710346 @default.
- W4306943572 cites W2610197120 @default.
- W4306943572 cites W2625231465 @default.
- W4306943572 cites W2725988230 @default.
- W4306943572 cites W2736242246 @default.
- W4306943572 cites W2745773403 @default.
- W4306943572 cites W2765567136 @default.
- W4306943572 cites W2768013244 @default.
- W4306943572 cites W2785060777 @default.
- W4306943572 cites W2793769859 @default.
- W4306943572 cites W2799921712 @default.
- W4306943572 cites W2806225217 @default.
- W4306943572 cites W2837542075 @default.
- W4306943572 cites W2883573930 @default.
- W4306943572 cites W2884101170 @default.