Five years of GWAS discovery

Visscher, P. M., Brown, Matthew A., McCarthy, M. I., & Yang, J. (2012) Five years of GWAS discovery. American Journal of Human Genetics, 90(1), pp. 7-24.

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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. © 2012 The American Society of Human Genetics.

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ID Code: 87701
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
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Keywords: abatacept, C reactive protein, cytotoxic T lymphocyte antigen 4, daclizumab, DNA, glucokinase, high density lipoprotein cholesterol, immunoglobulin, infliximab, interleukin 17 antibody, natalizumab, peptide antibody, von Willebrand factor, ankylosing spondylitis, autoimmune disease, bipolar disorder, body fat, body fat distribution, bone density, breast cancer, cell population, cigarette smoking, Crohn disease, diabetes mellitus, enteritis, experimental design, gene frequency, gene linkage disequilibrium, gene locus, gene mutation, genetic association, genetic variability, glucose blood level, gold standard, haplotype map, heart disease, height, helper cell, homeostasis, human, hypothesis, insulin dependent diabetes mellitus, knowledge discovery, mental disease, meta analysis (topic), metabolic disorder, morbid obesity, multiple sclerosis, non insulin dependent diabetes mellitus, phase 2 clinical trial (topic), phenotype, priority journal, publishing, QT interval, review, rheumatoid arthritis, risk, schizophrenia, scientist, signal transduction, single nucleotide polymorphism, systemic lupus erythematosus, thrombocyte count, ulcerative colitis, vitamin D deficiency, vitamin D metabolism, Autoimmune Diseases, Female, Genetic Linkage, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, History, 21st Century, Humans, Male, Metabolic Diseases, Translational Medical Research
DOI: 10.1016/j.ajhg.2011.11.029
ISSN: 0002-9297
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 24 Sep 2015 01:59
Last Modified: 25 Sep 2015 01:17

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