Article: Functional characterization of human genomic variation linked to polygenic diseases.
2023 Volume 39, Issue 6, Page(s) 462–490
Abstract: The burden of human disease lies predominantly in polygenic diseases. Since the early 2000s, genome-wide association studies (GWAS) have identified genetic variants and loci associated with complex traits. These have ranged from variants in coding ... ...
Abstract | The burden of human disease lies predominantly in polygenic diseases. Since the early 2000s, genome-wide association studies (GWAS) have identified genetic variants and loci associated with complex traits. These have ranged from variants in coding sequences to mutations in regulatory regions, such as promoters and enhancers, as well as mutations affecting mediators of mRNA stability and other downstream regulators, such as 5' and 3'-untranslated regions (UTRs), long noncoding RNA (lncRNA), and miRNA. Recent research advances in genetics have utilized a combination of computational techniques, high-throughput in vitro and in vivo screening modalities, and precise genome editing to impute the function of diverse classes of genetic variants identified through GWAS. In this review, we highlight the vastness of genomic variants associated with polygenic disease risk and address recent advances in how genetic tools can be used to functionally characterize them. |
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MeSH term(s) | Humans ; Genome-Wide Association Study/methods ; Multifactorial Inheritance/genetics ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; Genomics |
Language | English |
Publishing date | 2023-03-28 |
Publishing country | England |
Document type | Journal Article ; Review ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural |
ZDB-ID | 619240-3 |
ISSN | 1362-4555 ; 0168-9525 ; 0168-9479 |
ISSN (online) | 1362-4555 |
ISSN | 0168-9525 ; 0168-9479 |
DOI | 10.1016/j.tig.2023.02.014 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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