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

Peter M Visscher; Naomi R Wray; Qian Zhang; Pamela Sklar; Mark I McCarthy; Matthew A Brown; Jian Yang

doi:10.1016/j.ajhg.2017.06.005

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

Am J Hum Genet. 2017 Jul 6;101(1):5-22. doi: 10.1016/j.ajhg.2017.06.005.

Authors

Peter M Visscher¹, Naomi R Wray², Qian Zhang³, Pamela Sklar⁴, Mark I McCarthy⁵, Matthew A Brown⁶, Jian Yang²

Affiliations

¹ Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia; Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia. Electronic address: peter.visscher@uq.edu.au.
² Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia; Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia.
³ Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia.
⁴ Departments of Genetics and Genomic Sciences and Psychiatry, Icahn School of Medicine at Mount Sinai, NY, NY 10029, USA.
⁵ Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK.
⁶ Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia.

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.

Keywords: SNP; auto-immune disease; genome-wide association study; heritability; obesity; schizophrenia.

Publication types

Review

MeSH terms

Genetic Pleiotropy
Genetic Predisposition to Disease
Genome-Wide Association Study*
Humans
Multifactorial Inheritance / genetics
Translational Research, Biomedical*

Abstract

Publication types

MeSH terms

Grants and funding