15 years of GWAS discovery: Realizing the promise

Am J Hum Genet. 2023 Feb 2;110(2):179-194. doi: 10.1016/j.ajhg.2022.12.011. Epub 2023 Jan 11.


It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine. We predict that the emergence of large-scale biobanks will continue to expand to more diverse populations and capture more of the allele frequency spectrum through whole-genome sequencing, which will further improve our ability to investigate the causes and consequences of human genetic variation for complex traits and diseases.

Publication types

  • Review

MeSH terms

  • Gene Frequency
  • Genetics, Population*
  • Genome-Wide Association Study*
  • Humans
  • Multifactorial Inheritance
  • Polymorphism, Single Nucleotide