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.
Results
Showing 1 to 20 of 43 for “"Common variants"”.
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Common variants in antibody deficiencies
… paradigm. However, most cases of the two most common IEIs, selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID), have no known Mendelian origin. In this work I investigate the common-variant architec- ture of SIgAD and CVID through genome-wide association studies (GWAS) …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
… focused on identifying diagnostic rare variants that are solely responsible for the patient’s phenotype. In this thesis, I investigate whether common, inherited genetic variation also plays a modifying role in severe, presumably Mendelian neurodevelopmental disorders. In addition, I …
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Mechanism of Atrial Fibrillation in Lamin A/C Cardiomyopathy
Atrial fibrillation (AF) is a common arrhythmia with a complex genetic basis, yet the molecular mechanisms linking rare and common variants remain unclear. Polygenic risk score (PRS) assessment in the UK Biobank and All of Us cohorts shows that the risk of incident AF in carriers of …
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Investigation of Adiposity Phenotypes in AA Associated With GALNT10 & Related Pathway Genes
… in African Americans (AA) have identified common variants upstream of GALNT10 locus for association with body mass index (BMI). These studies encompassed a small number of variants upstream of GALNT10 that were common, noncoding variants, as is typically seen in GWAS studies.
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Molecular Epidemiology of Breast Cancer
… predisposing genes were known, but many new common polymorphisms contributing to increased cancer susceptibility are continuously being identified. This thesis has focused on familial breast cancer and identifying as well as investigating common low-penetrant polymorphisms contributing to …
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Enhancing genomic data quality through deep learning methods
… as genotyping arrays capture only a subset of common variants while rare and structural variants remain underrepresented. Without complete genomes, predictive models cannot reach their full potential. This thesis traces a research trajectory that began with phenotype prediction and expanded to …
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The Genetic Architecture of Alopecia Areata
… demonstrate the presence of both rare and common variants are contributing to AA etiology and support emerging evidence that suggests the genetic architecture of common complex diseases involves both rare and common variants.
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Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate
… genome-wide association studies have not found common variants with large influences on this trait.</p><p>Here, we have recruited a large cohort of healthy volunteers (n=1,887) and administered a brief cognitive battery utilizing diverse, common, and well-known tests. In addition to providing …
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Genetic and immunological risk factors of gestational diabetes mellitus
… we investigated whether autoimmunity and genetic variants affecting insulin secretion or action, or both, contribute to the development of GDM. We found that GDM was associated with the presence of glutamic acid decarboxylase-65 antibodies (GAD65Ab) in Arabian and Scandinavian women. In addition, …
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Risk prediction with genomic data
… genotyping technology, which focuses more on common variants, are used initially for disease prediction. Later, the whole exome data generated using Next Generation Sequencing (NSG) technology is used in the prediction. Another distinction between traditional GWAS and the new approach, WEWAS, …
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Common 'Inborn Errors' of Metabolism in the General Population
… studies have identified select examples where common variants at genes known to cause rare Mendelian diseases, including IEMs (e.g. LPL, DBH, PPM1K), are linked to phenotypic consequences in the general population that also occur in patients with the corresponding rare disease. Advances in …
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The contribution of non-additive and longitudinal genetic effects to health and cognitive traits
… In the second project, I investigated how common and rare genetic variants differentially influence cognitive performance across childhood and adolescence, using data primarily from the Avon Longitudinal Study of Parents and Children. By analysing both common variant polygenic indices and …
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Common genetic variation and spliceosome variants in rare developmental disorders
… caused by single, deleterious, protein- coding variants, evidence suggests that common variants also contribute to risk for rare, neurodevelopmental disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as expressivity, posing a major challenge in the …
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Exploring the Grey Zone between Type 1 and Type 2 Diabetes
T1D is most common in children and young adults and is characterized by autoimmune destruction of insulin producing pancreatic beta cells, presence of certain risk genotypes such as HLA-DQB1, INS VNTR, PTPN22 and need of insulin for survival. In adults the same situation is often referred to as …
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Genomic investigation of primary immunodeficiency
… with PID, and also explored the impacts of common genetic variation in PID-associated genes with common diseases. From analysis of whole-genome sequence data of over 800 PID probands within the NIHR BioResource Rare Disease PID cohort, I identified novel monogenic associations between PID …
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Genetic Modulation of the Neonatal Neural Processing of Speech at High and Low Familial Risk for Developmental Dyslexia
… deficits. Here, we hypothesised that common genetic polymorphisms in major dyslexia susceptibility genes (which are involved in developmental processes in-utero), are associated with abnormalities in the cortical microcircuitry, as hence in the functional connectivity and …
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Deciphering genetic associations using genome-wide epigenomics approaches
… of complex human traits has revealed that most common variants influencing human phenotypes have weak effect sizes and reside outside protein-coding regions, complicating biological interpretation of their function. In this thesis we use computational and experimental approaches to study the …
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Human host and malaria parasite genome variations to susceptibility to malaria
… population structure as observed from genetic variants affecting drug metabolism. Antimalarial drugs are used in populations carrying different profiles of genetic variability. However, there is limited information on the distribution of genetic variants of pharmacogenomics importance in …
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Characterizing variation at short tandem repeats and their role in human genome regulation
… goal in genomics is to understand the genetic variants that underlie molecular changes and lead to disease. Recent studies have identified thousands of genetic loci associated with human phenotypes. These have primarily analyzed point mutations, ignoring more complex types of variation. Here we …
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