From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases.

ABSTRACT: Genome-wide association studies (GWAS) have successfully mapped thousands of loci associated with complex traits. These associations could reveal the molecular mechanisms altered in common complex diseases and result in the identification of novel drug targets. However, GWAS have also left a number of outstanding questions. In particular, the majority of disease-associated loci lie in non-coding regions of the genome and, even though they are thought to play a role in gene expression regulation, it is unclear which genes they regulate and in which cell types or physiological contexts this regulation occurs. This has hindered the translation of GWAS findings into clinical interventions. In this review we summarize how these challenges have been addressed over the last decade, with a particu

SUBMITTER: Cano-Gamez E 

PROVIDER: S-EPMC7237642 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature