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15 years of GWAS discovery: Realizing the promise

Journal

AMERICAN JOURNAL OF HUMAN GENETICS
Volume 110, Issue 2, Pages 179-194

Publisher

CELL PRESS
DOI: 10.1016/j.ajhg.2022.12.011

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The GWAS era has led to significant discoveries in various fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine. The emergence of large-scale biobanks and whole-genome sequencing will further enhance our understanding of human genetic variation and its implications for complex traits and diseases.
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 popula-tion 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.

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