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Genome-Wide Methylation Analysis
2012The disruption and alteration of genomic methylation patterns is a hallmark of cancer and other disease states. Understanding and characterizing genome-wide methylation will have a profound effect on our understanding of tumorigenesis and provide novel avenues for therapy.
Alexander, Unterberger +2 more
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Genome-wide pathway analysis of a genome-wide association study on Alzheimer’s disease
Neurological Sciences, 2014The aims of this study were to identify candidate single nucleotide polymorphisms (SNPs) and mechanisms of Alzheimer's disease (AD) and to generate SNP to gene to pathway hypotheses. An AD genome-wide association study (GWAS) dataset that included 370,542 SNPs in 1,000 cases and 1,000 controls of European descent was used in this study.
Young Ho, Lee, Gwan Gyu, Song
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Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis
Molecular Biology Reports, 2012The aims of this study were to identify candidate single nucleotide polymorphisms (SNPs) and mechanisms of multiple sclerosis (MS) and to generate SNP to gene to pathway hypotheses. A MS genome-wide association study (GWAS) dataset that included 505,763 SNPs in 500 cases and 500 controls of European descent was used in this study.
Gwan Gyu, Song +3 more
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Genome-Wide Association Studies
Cold Spring Harbor Protocols, 2009INTRODUCTIONThe goal of association studies is to discover genetic variation that differs in frequency between cases and controls or between individuals with different phenotypic values. Until a few years ago, the only method available for such studies was low-throughput analysis in which a single gene was selected and either genotyped for known ...
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Cancer Discovery, 2016
Abstract A recent study from the University of Washington in Seattle indicates that microsatellite instability, classically associated with colorectal, stomach, and endometrial cancers, is a much more extensive phenotype than previously appreciated.
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Abstract A recent study from the University of Washington in Seattle indicates that microsatellite instability, classically associated with colorectal, stomach, and endometrial cancers, is a much more extensive phenotype than previously appreciated.
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Genome-Wide Association Studies
2010Genome-wide association (GWA) studies are best understood as an extension of candidate gene association studies, scaled up to cover hundreds of thousands of markers across the genome in samples usually of several thousand cases and controls. The GWA approach allows the detection of much smaller effect sizes than with previous linkage-based genome-wide ...
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R for Genome-Wide Association Studies
2013In recent years R has become de facto statistical programming language of choice for statisticians and it is also arguably the most widely used generic environment for analysis of high-throughput genomic data. In this chapter we discuss some approaches to improve performance of R when working with large SNP datasets.
Gondro, Cedric +2 more
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Genome-Wide Association Studies
2018Genetic association studies have made a major contribution to our understanding of the genetics of complex disorders over the last 10 years through genome-wide association studies (GWAS). In this chapter, we review the key concepts that underlie the GWAS approach.
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Analysis of Genome-Wide Association Data
2016The last decade has seen substantial advances in the understanding of the genetics of complex traits and disease. This has been largely driven by genome-wide association studies (GWAS), which have identified thousands of genetic loci associated with these traits and disease.
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