A scientometric review of genome-wide association studies

Abstract

This scientometric review of genome-wide association studies (GWAS) from 2005 to 2018 (3639 studies; 3508 traits) reveals extraordinary increases in sample sizes, rates of discovery and traits studied. A longitudinal examination shows fluctuating ancestral diversity, still predominantly European Ancestry (88% in 2017) with 72% of discoveries from participants recruited from three countries (US, UK, Iceland). US agencies, primarily NIH, fund 85% and women are less often senior authors. We generate a unique GWAS H-Index and reveal a tight social network of prominent authors and frequently used data sets. We conclude with 10 evidence-based policy recommendations for scientists, research bodies, funders, and editors.Melinda Mills and Charles Rahal discuss genome-wide association studies published in the last 13 years, finding increases in sample sizes, rates of discovery, and traits studied over time. They discuss limitations, including sample diversity, and make recommendations for scientists and funding bodies.