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An Overview of Genome-Wide Association Studies
2018Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders.
Michelle, Chang, Lin, He, Lei, Cai
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Genome-Wide Association Study in Humans
2009Genome-wide association studies have opened a new era in the study of the genetic basis of common, multifactorial diseases and traits. Before the introduction of this approach only a handful of common genetic variants showed consistent association for any phenotype.
J Gustav, Smith +1 more
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Analysis of Genome-Wide Association Studies
Genome-wide association studies (GWAS) aim to identify genetic variants across the whole genome associated with the phenotype of interest. This technique has been largely used in the bone field to elucidate the genetic architecture of complex traits, like bone mineral density or fracture risk, and to date, more than 600 loci have been identified.Piyush, Gampawar +2 more
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Family-Based Genome-Wide Association Studies
Pharmacogenomics, 2009In the last 2 years, the effort to identify genes affecting common diseases and complex traits has been accelerated through the use of genome-wide association studies (GWAS). The availability of existing large collections of linkage data paved the way for the use of family-based GWAS.
Benyamin, Beben +2 more
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Genome-wide association studies in atherothrombosis
European Journal of Internal Medicine, 2010Atherothrombotic diseases are complex diseases, arising from the interaction between several genetic and environmental factors. Until recently, the genetic basis of complex diseases in general, and of atherothrombosis in particular, were poorly characterized.
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Study Designs for Genome‐Wide Association Studies
2008Advances in high-throughput genotyping and a flood of data on human genetic variation from the Human Genome and HapMap projects have made genome-wide association studies technically feasible. However, researchers designing such studies face a number of challenges, including how to avoid subtle systematic biases and how to achieve sufficient statistical
Peter, Kraft, David G, Cox
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The road to genome-wide association studies
Nature Reviews Genetics, 2008The recent crop of results from genome-wide association studies might seem like a sudden development. However, this blooming follows a long germination period during which the necessary concepts, resources and techniques were developed and assembled.
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Quality Control for Genome-Wide Association Studies
2013This chapter overviews the quality control (QC) issues for SNP-based genotyping methods used in genome-wide association studies. The main metrics for evaluating the quality of the genotypes are discussed followed by a worked out example of QC pipeline starting with raw data and finishing with a fully filtered dataset ready for downstream analysis.
Gondro, Cedric +3 more
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Genome-wide association study for osteoarthritis
The Lancet, 2013Hao, Pang +4 more
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