A scientometric review of genome-wide association studies

Melinda C Mills*, Charles Rahal

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

243 Citations (Scopus)


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.

Original languageEnglish
Article number9
Number of pages11
JournalCommunications biology
Publication statusPublished - 2019
Externally publishedYes


  • Authorship
  • Capital Financing
  • Female
  • Genetic Research
  • Genome, Human/genetics
  • Genome-Wide Association Study/trends
  • Humans
  • Journalism, Medical
  • Male
  • Medical Laboratory Personnel
  • Research Personnel
  • United Kingdom
  • United States
  • Whole Genome Sequencing


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