Five years of GWAS discovery

Visscher, Peter M., Brown, Matthew .A, McCarthy, Mark I. and Yang, Jian (2012) Five years of GWAS discovery. American Journal of Human Genetics, 90 1: 7-24. doi:10.1016/j.ajhg.2011.11.029

Author Visscher, Peter M.
Brown, Matthew .A
McCarthy, Mark I.
Yang, Jian
Title Five years of GWAS discovery
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2012-01-01
Year available 2012
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.ajhg.2011.11.029
Open Access Status PMC
Volume 90
Issue 1
Start page 7
End page 24
Total pages 18
Place of publication Cambridge, MA, United States
Publisher Cell Press
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
Abstract The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders. We start by giving a number of quotes from scientists and journalists about perceived problems with GWASs. We will then briefly give the history of GWASs and focus on the discoveries made through this experimental design, what those discoveries tell us and do not tell us about the genetics and biology of complex traits, and what immediate utility has come out of these studies. Rather than giving an exhaustive review of all reported findings for all diseases and other complex traits, we focus on the results for auto-immune diseases and metabolic diseases. We return to the perceived failure or disappointment about GWASs in the concluding section.
Keyword Genome Wide Association
Body-Mass Index
Diabetes Susceptibility Loci
Inflammatory Bowel Disease
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 389892
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Queensland Brain Institute Publications
Official 2013 Collection
UQ Diamantina Institute Publications
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