10 Years of GWAS Discovery: Biology, Function, and Translation 2017 Visscher et al

Abstract

Application of the experimental design of genome-wide association studies (GWASs) is now 10 years old (young), and here we review the remarkable range of discoveries it has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics.

We predict the likely discoveries in the next 10 years, when GWASs will be based on millions of samples with array data imputed to a large fully sequenced reference panel and on hundreds of thousands of samples with whole-genome sequencing data.

Open access

 

"Three Exemplars of GWAS Success

Here, we focus on three examples of adult-onset disease to demonstrate some of the significant advances that have followed as a direct result of GWASs. Figure 3 illustrates examples of an overlap between GWAS signals that are known drug targets. In general, drug targets that are genetically informed have a higher probability of making it to phase III trial or to market, implying potential huge cost savings to the pharmaceutical industry.72"

Figure 3