Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Copy Number Variant"”.
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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
… using microarray technologies are due to copy number variants (CNVs), whereas only 3 to 5% of ID/DD can be identified with conventional cytogenetics. The Affymetrix® Cytoscan™ High Density (HD) Array (Affymetrix, Santa Clara, CA) containing over 2.4 million markers for copy number (CN) was …
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The Genetics of General Cognitive Ability
… a different class of genetic polymorphism, the copy-number variant (CNV). In this study, we detect CNVs from genome-wide SNP-allele-probe intensity data. We aggregate them into genome-wide mutational burden scores and also carry out genome-wide association scans for specific CNVs. Study #3 is a …
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Integration of common and rare genetic variation across complex traits and neuropsychiatric disorders
… identified thousands of links between common variants and phenotypic outcomes. More recently, whole exome and genome sequencing has catalogued patterns of ultra-rare variation and associations with complex traits and diseases. However, there has been relatively little progress integrating the …
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MicroRNA Dysregulation in Neuropsychiatric Disorders and Cognitive Dysfunction
… regulators of gene expression. Genetic Variants may cause microRNA dysregulation and the concomitant aberrant target expression. The dysregulation of one or a few targets may in turn lead to functional consequences ranging from phenotypic variations to disease conditions. In this thesis, …
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Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy
… linkage analysis, but no disease-causing genetic variant was identified. We subsequently performed candidate gene screening of the phospholamban (PLN) gene, genome-wide copy number variant (CNV) analysis and whole exome sequencing to identify the causal genetic variant. The ACM2 family harboured …
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
… 7.0-13.6% of the population. Genetics (including copy number variants, CNVs) plays a central role in many of these disorders, but is yet to be fully understood. Many bioinformatic CNV detection tools have been developed to identify CNVs from whole exome or whole genome sequence reads. However, …
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Sequencing in Isolation: Next-generation sequencing studies in founder populations
Although common variants are routinely assayed in populations, rare mutations and copy-number variants are understudied contributors to the aetiology of complex traits. Isolated populations hold the promise of increased power gains in detecting associations in rare and low-frequency variants that …
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Genetic Determinants of Obesity in Relation to Diet, Weight Gain and Mortality
… Score (GRS) based upon 13 BMI associated genetic variants. In individual SNP analyses, after correcting for multiple comparisons, some of the individual obesity loci such as NEGR1 rs2815752 associated with fat, carbohydrate and fiber intakes (P≤1x10-4 for all) and BDNF rs4923461 interacted with …
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Pharmacogenetics of resistant hypertension: evaluating the role of genetic variation in ABCB1, ADBR1, CES1, CYP3A4, CYP3A5, NEDD4L, NOS3, NR3C2 and SCNN1B among South African hypertensive patient
… is substantial lack of data on which genetic variants are important in influencing how African patients with hypertension respond to treatment. We hypothesise that genetic variants previously reported to influence treatment outcome in hypertensive patients, may play a role in the development …
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GENOMICS OF EFFICIENCY, RESILIENCE AND BIODIVERSITY IN HOLSTEIN AND LOCAL CATTLE BREEDS
This thesis explores the genomics of biodiversity, resilience, and efficiency in Holstein (a cosmopolitan population) and local cattle breeds, focusing on their genetic diversity, adaptation to environmental challenges and the application of genomic tools in breeding programs. The research …