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Journal ArticleDOI

Progress and challenges in genome-wide association studies in humans

Peter Donnelly
- 10 Dec 2008 - 
- Vol. 456, Iss: 7223, pp 728-731
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TLDR
Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention.
Abstract
After more than a decade of hope and hype, researchers are finally making inroads into understanding the genetic basis of many common human diseases. The use of genome-wide association studies has broken the logjam, enabling genetic variants at specific loci to be associated with particular diseases. Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention.

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Citations
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Journal ArticleDOI

Common SNPs explain a large proportion of the heritability for human height

TL;DR: Evidence is provided that the remaining heritability is due to incomplete linkage disequilibrium between causal variants and genotyped SNPs, exacerbated by causal variants having lower minor allele frequency than the SNPs explored to date.
Journal ArticleDOI

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Denise Harold, +86 more
- 01 Oct 2009 - 
TL;DR: A two-stage genome-wide association study of Alzheimer's disease involving over 16,000 individuals, the most powerful AD GWAS to date, produced compelling evidence for association with Alzheimer's Disease in the combined dataset.
Journal ArticleDOI

Integrating common and rare genetic variation in diverse human populations

David Altshuler, +68 more
- 02 Sep 2010 - 
TL;DR: An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
Journal ArticleDOI

The Drosophila melanogaster Genetic Reference Panel

TL;DR: The Drosophila melanogaster Genetic Reference Panel is described, a community resource for analysis of population genomics and quantitative traits, which reveals reduced polymorphism in centromeric autosomal regions and the X chromosomes, evidence for positive and negative selection, and rapid evolution of the X chromosome.
References
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Journal ArticleDOI

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Paul Burton, +195 more
- 07 Jun 2007 - 
TL;DR: This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest.
Journal ArticleDOI

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

TL;DR: This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
Journal ArticleDOI

The Wellcome Trust Case Control Consortium, U.K.

Kaspar Mossman
- 01 Jan 2008 - 
TL;DR: This article reports that the magazine's award for Research Leader of the Year was given to the Wellcome Trust Case Control Consortium which conducted a huge genetic study to look at the genetic causes for various diseases.
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