A scientometric review of genome-wide association studies

• Published in: Communications Biology
• Main Authors: Mills, Melinda C., Rahal, Charles
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Science and Business Media LLC 2019
• Subjects: General Agricultural and Biological Sciences; General Biochemistry, Genetics and Molecular Biology; Medicine (miscellaneous); Iceland
• Online Access: http://dx.doi.org/10.1038/s42003-018-0261-x; http://www.nature.com/articles/s42003-018-0261-x; http://www.nature.com/articles/s42003-018-0261-x.pdf

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.