Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci

Genome-wide association studies (GWASs) have identified thousands of loci associated with hundreds of complex diseases and traits, and progress is being made toward elucidating the causal variants and genes underlying these associations. Functional characterization of mechanisms at GWAS loci is a multi-faceted challenge. Challenges include linkage disequilibrium and allelic heterogeneity at each locus, the noncoding nature of most loci, and the time and cost needed for experimentally evaluating the potential mechanistic contributions of genes and variants.

Source: The American Journal of Human Genetics - November 1, 2018 Category: Genetics & Stem Cells Authors: Maren E. Cannon, Karen L. Mohlke Tags: Review Source Type: research