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Article

Functional characterization of human genomic variation linked to polygenic diseases.

Trends in genetics : TIG - 1 Jun 2023

Fabo Tania, Khavari Paul

Abstract excerpt

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...

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PMID: 36997428
DOI: 10.1016/j.tig.2023.02.014
PMCID: PMC11025698

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