Cited by 3,719Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

10 Years of GWAS Discovery: Biology, Function, and Translation

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Visscher, Peter M., Wray, Naomi R., Zhang, Qian, Sklar, Pamela, McCarthy, Mark I., Brown, Matthew A., Yang, Jian·2017·The American Journal of Human Genetics

Abstract

Application of the experimental design of genome-wide association studies (GWASs) is now 10 years old (young), and here we review the remarkable range of discoveries it has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics. We predict the likely discoveries in the next 10 years, when GWASs will be based on millions of samples with array data imputed to a large fully sequenced reference panel and on hundreds of thousands of samples with whole-genome sequencing data.

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Crossref · 10.1016/j.ajhg.2017.06.005

Cites

149 of 149 references verified0 citation errors · 0 not checkable

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  • Most medically and evolutionarily relevant traits are complex, with hundreds or thousands of loci across the genome contributing to them.

    “most medically and evolutionarily relevant traits are complex, with hundreds or thousands of loci across the genome contributing to them34,35.”
  • Over the past 15 years, genomic analyses have identified thousands of genetic variants that contribute statistically to variation in complex phenotypes, traits that have complex patterns of inheritance and that are affected by large numbers of genes in combination with environmental factors.

    “Over the past 15 years, genomic analyses have identified thousands of genetic variants that contribute statistically to variation in complex phenotypes, traits that have complex patterns of inheritance and that are affected by large numbers of genes in combination with environmental factors [18–20].”
  • Psychiatric disorders have a polygenic basis: many genetic loci, mostly with small effects, contribute to risk.

    “The evidence is now overwhelming that psychiatric disorders are “polygenic”, that many genetic loci contribute to risk.”

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Authors
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J.
Affiliations
  • The University of Queensland (AU)
  • Icahn School of Medicine at Mount Sinai (US)
  • Centre for Human Genetics (GB)
  • Translational Research Institute (AU)
Corresponding author
Visscher, Peter M.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2017-07
Volume
101
Issue
1
Pages
5-22
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2725988230
Cited by
3,719
References
149
Citations by year
2026: 328 · 2025: 349 · 2024: 381 · 2023: 363 · 2022: 431 · 2021: 526 · 2020: 563 · 2019: 455 · 2018: 267 · 2017: 50 · 2015: 1
FWCI
47.28
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • QUT ePrints (Queensland University of Technology) (submittedVersion)
Funders
  • Australian National Health and Medical Research Council (1107258, 1078901, 1078037, 1056929, 1048853, 1113400)
  • gs2:Sylvia and Charles Viertel Charitable Foundation
  • NIH (GM099568, MH100141-01, MH095034, MH109897, DK098032, DK085545, MH101814, DKD105535)
  • Wellcome Trust (090532, 090367, 098381, 106130)
  • UK Medical Research Council (L020149, 004422, J010642)
  • Innovative Medicines Initiative
  • Accelerating Medicines Partnership
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
genome-wide association study, complex trait genetics, population genetics, disease biology, translational medicine, therapeutic target, genotype imputation, whole genome sequencing, reference panel
MeSH terms
Humans, Genetic Predisposition to Disease, Multifactorial Inheritance, Genome-Wide Association Study, Translational Research, Biomedical, Genetic Pleiotropy

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