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 18 of 18 for “"Rare genetic variants"”.
-
Rare Genetic Variants and Cancer Susceptibility
Genetic susceptibility to breast cancer is known to be conferred by common variants, identified through GWAS, together with some rarer variants conferring higher disease risks. The latter, identified through genetic linkage or targeted sequencing studies, includes protein-truncating variants and …
-
Characterisation of Rare Genetic Variants Conferring Susceptibility to Psoriasis
… unexplained, suggesting the possibility that rare variants may also be pathogenic. The aim of this project was to further investigate this hypothesis and explore different approaches to the identification of rare susceptibility alleles. A candidate gene approach was initially undertaken, …
-
Rare genetic variants in patients with age-related macular degeneration
Contains fulltext : 148918.pdf (Publisher’s version ) (Open Access)
-
Investigating the role of rare genetic variants in the aetiology of haemostasis disorders
… for inherited conditions, and, nowadays, the genetic bases for thousands of Mendelian disorders have been identified. However, providing a molecular diagnosis for these conditions remains challenging, and a considerable portion of patients with inherited conditions still lack a genetic …
-
THE EFFECTS OF RARE GENETIC VARIANTS AND GENETIC ANCESTRY ON DRUG RESPONSE AND SEVERITY IN AIRWAYS DISEASES
Background: Genetic studies in asthma and COPD have identified common genetic variants that explain a small proportion of inter-individual variability in drug response and severity. Genetic ancestry could be associated with disease severity in individuals from recently admixed ethnic groups, such …
-
On the Origin of Phenotypic Variation: Novel Technologies to Dissect Molecular Determinants of Phenotype
… The first part of my work is focused on finding rare genetic variants in pooled DNA samples, leading to the development of a novel set of algorithms, SNPseeker and SPLINTER, applied to next-generation sequencing data. The second part of my work describes the creation of a reporter system for DNA …
-
Genomic variety estimation with Bayesian nonparametric hierarchies
… to investigate and understand the effect of rare genetic variants in biological human evolution as well as their impact in the developement of rare diseases. To do so, it is imperative to develop a statistical framework to assess what fraction of the overall variation present in human genome …
-
UNRAVELLING THE MOLECULAR BASIS OF ALZHEIMER¿S DISEASE AND FRONTOTEMPORAL DEMENTIA: GENETIC AND EPIGENETIC APPROACH THROUGH NEXT GENERATION SEQUENCING AND OPENARRAY TECHNOLOGIES
… complex heterogeneous disorders with a strong genetic background, but the identification of a genetic cause is difficult given the multifactorial aetiology of the disorders. Epigenetic and environmental factors interplay to influence this complexity. The aim of the present project was to …
-
Computational Contributions Towards Scalable and Efficient Genome-wide Association Methodology
… studies are experiments designed to find the genetic bases of physical traits: for example, markers correlated with disease status by comparing the DNA of healthy individuals to the DNA of affecteds. Over the past two decades, an exponential increase in the resolution of DNA-testing technology …
-
Linear mixed model for multi-level omics data
… facilitate the precision medicine with emerging genetic findings and other demonstrated knowledge (Ashley, 2015). While rare genetic variants, multi-omic information and family structure have provided unprecedented data resources for predictive studies, few related analytical approaches were …
-
DISSECTING THE POLYGENIC LANDSCAPE OF HUMAN COMPLEX TRAITS AND DISEASES IN A SOUTHERN ITALIAN COHORT
… are shaped by the combined effects of common and rare genetic variants, yet their contribution to risk is still poorly characterised in Southern European populations. This thesis addresses this gap by analysing the genetic architecture of traits and diseases in Italy, leveraging the Moli-sani …
-
The contribution of non-additive and longitudinal genetic effects to health and cognitive traits
… yet understudied aspects of human trait genetic architectures: non-additive genetic effects and longitudinal genetic effects, with a focus on health and cognitive traits. Most genetic studies often focus on additive genetic effects estimated in unrelated individuals at single time points. …
-
Genetic variation in the IFITM locus and its phenotypic consequences
… studies that have attempted to correlate genetic variation within these genes with variation in viral restriction. I also describe how genetic association studies have been used more broadly to understand the biology underlying both infectious and non-communicable diseases. Evidence from …
-
Expanding the applications of high-throughput DNA sequencing
… high-throughput sequencing involves identifying genetic variation, such as finding rare mutations in the genomes of cancerous cells. In these applications, the sensitivity with which rare genetic variants can be detected is limited by the relatively high rate with which current DNA sequencing …
-
Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… has been required to better characterise genetic diversity in understudied regions, such as Island Southeast Asia and Siberia. This thesis contributes to this ongoing effort in the form of three partially related subprojects. Firstly, population structure and local adaptations in Southeast …
-
Molecular Mechanisms of Vascular Disease In Patients With Rare Variants In Myh11
… the remaining 80% of patients may also have genetic factors that increase their risk for developing TAAD. Many of the genes that predispose to TAAD encode proteins involved in smooth muscle cell (SMC) contraction and the disease-causing mutations are predicted to disrupt contractile function. …
-
Genomic Characterization of Sickle Cell Mouse Models for Therapeutic Genome Editing Applications
… hemoglobin (HbA, α2β2). Some individuals harbor rare genetic variants in the extended β-globin gene cluster that cause constitutively elevated postnatal HbF, a benign condition known as hereditary persistence of fetal hemoglobin (HPFH) which alleviates symptoms of co-inherited SCD. Previously, we …
-
Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate
… has focused on cognitive ability and the genetic and environmental factors that might influence it, this aspect of human nature is still far from being well understood. It has been well-established that certain factors such as age and education have significant impacts on performance on …