Search Results - "Rhian Gwilliam"
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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
Published in Nature genetics (01-08-2011)“…Matthew Brown, Peter Donnelly and colleagues report results of a genome-wide association meta-analysis and follow-up study of ankylosing spondylitis. They…”
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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Published in Nature genetics (01-08-2008)“…Mark Daly and colleagues present results of a combined analysis of data from three recent genome-wide association studies for Crohn's disease, followed by…”
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3
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
Published in PloS one (15-11-2010)“…Late Onset Alzheimer's disease (LOAD) is the leading cause of dementia. Recent large genome-wide association studies (GWAS) identified the first strongly…”
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Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.)
Published in Plant biotechnology journal (01-12-2011)“…Food security is a global concern and substantial yield increases in cereal crops are required to feed the growing world population. Wheat is one of the three…”
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A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
Published in Nature genetics (01-07-2007)“…We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding…”
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Discovery and development of exome-based, co-dominant single nucleotide polymorphism markers in hexaploid wheat (Triticum aestivum L.)
Published in Plant biotechnology journal (01-04-2013)“…Globally, wheat is the most widely grown crop and one of the three most important crops for human and livestock feed. However, the complex nature of the wheat…”
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A genotype calling algorithm for the Illumina BeadArray platform
Published in Bioinformatics (15-10-2007)“…Motivation: Large-scale genotyping relies on the use of unsupervised automated calling algorithms to assign genotypes to hybridization data. A number of such…”
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Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size
Published in PLoS genetics (01-04-2009)“…Recent genome-wide (GW) scans have identified several independent loci affecting human stature, but their contribution through the different skeletal…”
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis
Published in Genes and immunity (01-01-2016)“…Acute anterior uveitis (AAU) involves inflammation of the iris and ciliary body of the eye. It occurs both in isolation and as a complication of ankylosing…”
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Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
Published in Nature communications (08-01-2019)“…Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article…”
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Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project
Published in Neurobiology of aging (2012)“…Abstract Iron overload may contribute to the risk of Alzheimer's disease (AD). In the Epistasis Project, with 1757 cases of AD and 6295 controls, we studied 4…”
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Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression
Published in PloS one (26-12-2012)“…A large number of genome-wide association studies have been performed during the past five years to identify associations between SNPs and human complex…”
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Population genetic analysis of Plasmodium falciparum parasites using a customized Illumina GoldenGate genotyping assay
Published in PloS one (06-06-2011)“…The diversity in the Plasmodium falciparum genome can be used to explore parasite population dynamics, with practical applications to malaria control. The…”
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High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation
Published in PloS one (25-09-2012)“…Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113…”
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A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility
Published in Genes and immunity (01-03-2014)“…Genome-wide association studies (GWASs) perform per-SNP association tests to identify variants involved in disease or trait susceptibility. However, such an…”
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Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies
Published in PloS one (09-07-2009)“…To identify loci affecting the electrocardiographic QT interval, a measure of cardiac repolarisation associated with risk of ventricular arrhythmias and sudden…”
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Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients
Published in Experimental eye research (01-04-2007)“…Posterior polymorphous corneal dystrophy (PPCD) is a hereditary bilateral disorder affecting Descemet's membrane and the endothelium. The aim of the present…”
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The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project
Published in BMC genetics (11-11-2010)“…The loss of noradrenergic neurones of the locus coeruleus is a major feature of Alzheimer's disease (AD). Dopamine β-hydroxylase (DBH) catalyses the conversion…”
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Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease
Published in Journal of neuroinflammation (23-08-2009)“…Chronic inflammation is a characteristic of Alzheimer's disease (AD). An interaction associated with the risk of AD has been reported between polymorphisms in…”
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Observational study on variability between biobanks in the estimation of DNA concentration
Published in BMC research notes (13-10-2009)“…There is little confidence in the consistency of estimation of DNA concentrations when samples move between laboratories. Evidence on this consistency is…”
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