15 years of GWAS discovery: Realizing the promise.

Title15 years of GWAS discovery: Realizing the promise.
Publication TypeJournal Article
Year of Publication2023
AuthorsAbdellaoui, A, Yengo, L, Verweij, KJH, Visscher, PM
JournalAm J Hum Genet
ISSN Number1537-6605
KeywordsGene Frequency, Genetics, Population, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Polymorphism, Single Nucleotide

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.

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Citation Key13082
PubMed ID36634672
PubMed Central IDPMC9943775
Grant ListMC_PC_17228 / MRC_ / Medical Research Council / United Kingdom