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 20 of 22 for “"Polygenic Risk Score"”.
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A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Generalizability of Polygenic Risk Score across African populations
… populations. Thus, the prediction accuracy of polygenic risk scores (PRS) derived from EUR ancestry populations is less accurate in populations of non-European ancestry, and least accurate in African (AFR) ancestry populations. The extent to which PRS prediction accuracy varies within AFR …
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Mechanism of Atrial Fibrillation in Lamin A/C Cardiomyopathy
… 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 protein-altering variants (PAV) in LMNA is significantly greater than predicted by a PRS alone, suggesting a synergistic …
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Data-Driven Insights into Spatial Patterns and Disease Etiologies of White Matter Hyperintensities
… media thickness (IMT), Alzheimer's disease polygenic risk score (AD PRS), circulatory diseases and other clinical measures that may illuminate the origins and progression of WMH. We have uncovered significant associations of location-specific WMH with risk factors such as IMT, circulatory …
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Polygene Scores für häufige komplexe Erkrankungen und deren Anwendung auf Parkinson
… die derzeitigen Anwendung von polygenen Scores (PGS) auf häufige komplexe Erkrankungen in homogenen Populationen, insbesondere auf die Parkinson-Krankheit (PD, engl. Parkinson’s disease). Die fünf Hauptarbeiten dieser Dissertation setzen sich neben der Enwicklung von PGS vorallem mit …
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Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort
… CKD in many populations, and that are used for Polygenic Risk Score (PRS) models but have not been explored in populations living in Africa. Aims This project aimed to study in a sub-Saharan African cohort, the association between 1) Sickle cell trait (SCT) with Chronic Kidney disease (CKD), and …
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Improving Clinical Risk Models through Integration of Polygenic Risk Scores and Omics
… application to disease research. Methods such as polygenic risk score analysis have been presented to enhance disease risk prediction, however, the clinical utility of these methods are controversial. Similarly, the identification of genes associated with likely causal SNPs is unclear as …
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Precision Medicine in Immunotherapy and Lung Cancer
… led to the development of a predictive polygenic risk score for the onset of immunotherapy-related toxicity. The final chapter explores two validation experiments performed to confirm the scRNA-seq findings. The first is a flow cytometry protein quantification experiment to investigate …
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Pleiotropy in complex traits
… and DIAGRAM consortia, respectively, to perform polygenic risk score analyses in three patient groups (SCZ only, T2D only, comorbid SCZ and T2D) and population-based controls. I find that the comorbid patient group have a higher genetic risk for both T2D and SCZ compared to controls, supporting …
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Painting the Past: Uncovering Ancestral Contributions to Complex Human Phenotypes in Western Eurasia
… and the contribution of each ancestry to a polygenic phenotype using a new statistic analogous to a polygenic risk score based on local ancestry probabilities. An in-depth investigation into the origins of Multiple Sclerosis (MS) was performed. This project was the first to use ancient DNA …
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Risk Prediction and Value of Polygenic Risk Scores in Colorectal Cancer Screening
Risk prediction models that are based on common genetic variants, known as Polygenic risk Score (PRS), have shown promises to guide personalized screening for colorectal cancer (CRC). Continuous efforts to improve PRS risk prediction are needed for clinical use, and understanding its added value of …
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Functional Genome Wide Association Study in Susceptibility and Resistance of Malaria
… and Enrichr. Additionally, we performed a polygenic risk score for individuals in each study population using PRSice, and evaluated the level of risk exposure for each individual based on the best predictive threshold. Finally, we filtered the rare variants from each study, and performed …
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Understanding the Genetic Basis of Obesity: Lessons from Man’s Best Friend
… has been limited. Past data on how biological risk factors impact canine obesity have been contradictory and the genetic basis of canine obesity is poorly understood. The heritability of human obesity is estimated at 40-70% and, despite considerable study, the majority of genetic variants …
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A Comprehensive Genetic Risk Model for the Prediction of Future Prostate Cancer
The only established prostate cancer (PCa) risk factors are age, ethnic ancestry and family history. Several PCa genetic susceptibility variants have been identified, including rare moderate-to-high risk pathogenic variants (PVs) and common low-risk variants which jointly explain 40% of the excess …
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Biomarker-And Pathway-Informed Polygenic Risk Scores for Alzheimer's Disease and Related Disorders
… each contribute a small portion of the overall risk. Polygenic Risk Scores (PRS) are a mathematical construct or composite that aggregates the small effects of multiple variants into a single score. Potential applications of PRS include risk stratification, biomarker discovery and increased …
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Genetic and dietary determinants of Type 2 diabetes in a black South African population
… and genetic factors interact to increase T2D risk in the black South African population. We set out to determine 1) the predictive utility of the European and Asian derived variants associated with T2D in a black South African population; 2) the rare and low frequency variants associated with …
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The genetics of cognition in Schizophrenia
… population-based cohort. Linkage disequilibrium score regression was used to assess the genetic correlations between reaction time variability and selected neuropsychiatric traits, including schizophrenia. Lastly, Genomic Structural Equation Modelling was applied to cognitive data from the UK …
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The genetics of cognition in Schizophrenia
… population-based cohort. Linkage disequilibrium score regression was used to assess the genetic correlations between reaction time variability and selected neuropsychiatric traits, including schizophrenia. Lastly, Genomic Structural Equation Modelling was applied to cognitive data from the UK …
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Genetic determinants of rates of cognitive decline in preclinical Alzheimer’s Disease
… turn both the identification of individuals at-risk for AD and, amongst these, those that are expected to decline over the course of a trial. While brain imaging to determine Aβ- amyloid burden has utility in identifying individuals with preclinical AD, further work needs to be conducted to …
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Personalising Predictive Prevention of Cardiovascular Disease using Electronic Health Records and Genomics
… mortality in the world. The development of CVD risk prediction models has been pivotal in helping identify high risk individuals who may benefit the most from appropriate treatment. In England, clinical guidelines provide recommendations of the appropriate care and treatments needed to manage …
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MOLECULAR PATHWAYS ANALYSIS THROUGH MULTI-OMICS APPROACHES TO STUDY THE BIOLOGICAL BASIS OF ANOREXIA NERVOSA
… basis of AN using next-generation sequencing, polygenic risk scoring, and hair metabolomic profiling, with the ultimate goal of improving diagnosis and treatment strategies. This study analyzed three distinct case studies involving AN patients. The first case study involved sequencing the DNA …
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