Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 179-194 |
| Number of pages | 16 |
| Journal | American journal of human genetics |
| Volume | 110 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2 Feb 2023 |
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In: American journal of human genetics, Vol. 110, No. 2, 02.02.2023, p. 179-194.
Research output: Contribution to journal › Review article › Academic › peer-review
TY - JOUR
T1 - 15 years of GWAS discovery
T2 - Realizing the promise
AU - Abdellaoui, Abdel
AU - Yengo, Loic
AU - Verweij, Karin J. H.
AU - Visscher, Peter M.
N1 - Funding Information: This research was supported by the Australian National Health and Medical Research Council ( 1113400 ) and the Australian Research Council ( FL180100072 and DE200100425 ). A.A. and K.J.H.V. are supported by the Foundation Volksbond Rotterdam . For Figure 2 , data from the UK Biobank was used under Project 12505 and data from the Health and Retirement Study (HRS). HRS (Health and Retirement Study) is supported by the National Institute on Aging (NIA, U01AG009740 ). HRS genotyping received additional support from the National Institute on Aging ( RC2 AG036495 and RC4 AG039029 ). Genotype data on HRS participants was obtained with the Illumina HumanOmni2.5 BeadChips (HumanOmni2.5-4v1, HumanOmni2.5-8v1, HumanOmni2.5-8v1.1). Genotyping was conducted by the NIH Center for Inherited Disease Research (CIDR) at Johns Hopkins University. Genotyping quality control and final preparation of the data were performed by the Genetics Coordinating Center at the University of Washington and the University of Michigan. The validation dataset includes respondents who provided DNA samples and signed consent forms in 2006, 2008, and 2010 (dbGaP: phs000428.v2.p2). Because of space limitations, we were unable to do full justice to all relevant and important GWAS articles that have been published in the last 15 years. We apologize to many of our colleagues whose work is not cited. Funding Information: This research was supported by the Australian National Health and Medical Research Council (1113400) and the Australian Research Council (FL180100072 and DE200100425). A.A. and K.J.H.V. are supported by the Foundation Volksbond Rotterdam. For Figure 2, data from the UK Biobank was used under Project 12505 and data from the Health and Retirement Study (HRS). HRS (Health and Retirement Study) is supported by the National Institute on Aging (NIA, U01AG009740). HRS genotyping received additional support from the National Institute on Aging (RC2 AG036495 and RC4 AG039029). Genotype data on HRS participants was obtained with the Illumina HumanOmni2.5 BeadChips (HumanOmni2.5-4v1, HumanOmni2.5-8v1, HumanOmni2.5-8v1.1). Genotyping was conducted by the NIH Center for Inherited Disease Research (CIDR) at Johns Hopkins University. Genotyping quality control and final preparation of the data were performed by the Genetics Coordinating Center at the University of Washington and the University of Michigan. The validation dataset includes respondents who provided DNA samples and signed consent forms in 2006, 2008, and 2010 (dbGaP: phs000428.v2.p2). Because of space limitations, we were unable to do full justice to all relevant and important GWAS articles that have been published in the last 15 years. We apologize to many of our colleagues whose work is not cited. The authors declare no competing interests. Publisher Copyright: © 2022 American Society of Human Genetics
PY - 2023/2/2
Y1 - 2023/2/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85146899276&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ajhg.2022.12.011
DO - https://doi.org/10.1016/j.ajhg.2022.12.011
M3 - Review article
C2 - 36634672
SN - 0002-9297
VL - 110
SP - 179
EP - 194
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
ER -