Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits.

ABSTRACT: Over the last decade, genome-wide association studies (GWAS) have propelled the discovery of thousands of loci associated with complex diseases. The focus is now turning toward the function of these association signals, determining the causal variant(s) among those in strong linkage disequilibrium, and identifying their underlying mechanisms, such as long-range gene regulation. Genome-editing techniques utilizing zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALENs), and clustered regularly-interspaced short palindromic repeats with Cas9 nuclease (CRISPR-Cas9) are becoming the tools of choice to establish functionality for these variants, due to the ability to assess effects of single variants in vivo. This review will discuss examples of how these technolog

SUBMITTER: Smith AJP 

PROVIDER: S-EPMC6087882 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature