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Chapter 11: Genome-wide association studies.
Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease.
William S Bush, Jason H Moore
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Guidelines for genome-wide association studies. [PDF]
Genome-wide association studies (GWAS) have revolutionized human genetics. They have led to the identification of thousands of loci that affect both normal variation and susceptibility to disease, and have clarified our understanding of the genetic architecture of complex traits.
Gregory S Barsh +3 more
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Genome-Wide Association Studies of Allergic Diseases
Allergic diseases are complex diseases caused by a combination of genetic and environmental factors. To determine the genetic components of these diseases and to discover the genes and cellular pathways underlying them, a large number of genetic studies ...
Mayumi Tamari +2 more
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Myopia genetics in genome-wide association and post-genome-wide association study era [PDF]
Genome-wide association studies (GWAS) of myopia and refractive error have generated exciting results and identified novel risk-associated loci. However, the interpretation of the findings of GWAS of complex diseases is not straightforward and has ...
Xuan Liao, Qing-Qing Tan, Chang-Jun Lan
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A genome-wide association study on medulloblastoma [PDF]
Abstract Introduction Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark.
Dahlin, Anna M. +37 more
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Genome-Wide Association Studies in Atherosclerosis [PDF]
Cardiovascular disease remains the major cause of worldwide morbidity and mortality. Its pathophysiology is complex and multifactorial. Because the phenotype of cardiovascular disease often shows a marked heritable pattern, it is likely that genetic factors play an important role.
Sivapalaratnam, S. +7 more
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Genome-wide association studies in Plasmodiumspecies [PDF]
Abstract Genome-wide association studies (GWAS) look for correlations between traits of interest and genetic markers spread throughout the genome. A recent study in BMC Genetics has found that populations of the malaria parasite Plasmodium vivax should be amenable to GWAS searching for a genetic basis of parasite pathogenicity.
Penman, Bridget +3 more
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Genome-wide association studies in ADHD [PDF]
Attention-deficit/hyperactivity disorder, ADHD, is a common and highly heritable neuropsychiatric disorder that is seen in children and adults. Although heritability is estimated at around 76%, it has been hard to find genes underlying the disorder. ADHD is a multifactorial disorder, in which many genes, all with a small effect, are thought to cause ...
Franke, Barbara +2 more
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Clade distillation for genome-wide association studies. [PDF]
Abstract Testing inferred haplotype genealogies for association with phenotypes has been a longstanding goal in human genetics with several underlying challenges. A key advantage of these methods is the potential to detect association signals caused by allelic heterogeneity — when multiple causal variants modulate a phenotype — in both ...
Christ R +4 more
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Genome-wide association studies in cancer [PDF]
Genome-wide association studies (GWAS) provide a powerful approach to identify common, low-penetrance disease loci without prior knowledge of location or function. GWAS have been conducted in five of the commonest cancer types: breast, prostate, colorectal and lung, and melanoma, and have identified more than 20 novel disease loci, confirming that ...
Douglas F, Easton, Rosalind A, Eeles
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