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 45 for “"Polygenic risk"”.
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Leveraging genotypes imputation and polygenic risk scores in malaria susceptibility
… treating the whole genome of an individual as a risk predictor using Polygenic Risk Scores (PRS). However, imputation remains at modest in Africa populations with few (or no) studies (study) have evaluated the potential of imputation tools in African populations. On the other hand, although the …
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Private Random Variate Sampling for Secure and Federated Polygenic Risk Scores
Polygenic risk scores (PRS) are used to quantify the additive effect of single nucleotide polymorphisms (SNPs) on an individual’s genetic risk for developing a particular trait or condition. Collaborations between data centers are important for improving the statistical power and validity of PRS …
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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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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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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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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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Understanding low-penetrance genetic risk for breast cancer
… on the management of patients at increased risk of breast cancer due to a strong family history and/or mutations in rare, high-penetrance breast cancer genes such as BRCA1 and BRCA2. In recent years, GWASs have identified a number of more common low-penetrance susceptibility loci for breast …
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A pathway-based approach investigating DNA sequence variants to implicate the inflammatory pathway in the predisposition to Achilles tendinopathy
… for associations with AT and (ii) to identify a polygenic risk model, comprised of several genetic markers within genes encoding proteins involved in the inflammatory pathway, to predict risk of AT.
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Polygene Scores für häufige komplexe Erkrankungen und deren Anwendung auf Parkinson
… dem Titel „Validity and Prognostic Value of a Polygenic Risk Score for Parkinson’s Disease“ behandelt die Validierung eines veröffentlichten PGS für PD und untersucht, ob die prognostischen Fähigkeiten dieses PGS isoliert sinnvoll für die Versorgung von Patientinnen und Patienten genutzt werden …
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Future Preventive Gene Therapy of Polygenic Diseases from a Population Genetics Perspective
… technologies, gene therapies to prevent polygenic diseases may soon become possible. This research assesses the population genetic consequences of such therapies. This research commenced by quantifying the risk of polygenic late-onset diseases. Computer simulations of population age …
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Representation Learning Associates Patients’ Risks for Metabolic Diseases with Features of Their Lipocytes
Polygenic risk scores (PRS) estimate an individual’s risk of developing a certain disease, suggesting that differences between cells of individuals with high versus low PRS could give us insight into the cellular disease mechanisms. To study metabolic diseases, we analyze the distribution of cell …
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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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Genome-wide polygenic scores, executive function, and attention-deficit/hyperactivity disorder in youth
… highly heritable, the processes by which genetic risk affects its development are poorly understood. Potential mechanisms that may contribute to the development of ADHD, possibly by sharing common genetic risk, include impairments in executive functions. The goal of the present study was to …
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Identifying Neural, Genetic, and Behavioral Correlates of the p Factor
… – called the ‘p factor’ – that underlies shared risk for a wide range of mental disorders. Identifying the behavioral, neural, and genetic correlates of this general liability would substantiate its importance in characterizing the shared origins of mental disorders and help us begin to …
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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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Unravelling Variability in Antidepressant Outcomes using Pharmacogenetic and Pharmacokinetic Strategies
… genomic associations for remission. When using polygenic risk scores (PRS), we found associations between remission and PRS for antidepressant response, as well as between relapse and PRS for Alzheimer’s disease. These findings provide insights into the genetic architecture of treatment outcomes …
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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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Advancing Precision Medicine in Psychiatry: Genetic Insights into Antidepressant Treatment Outcomes
… transporter P-glycoprotein), and broader polygenic liability may partly explain this variability. Recent advances in psychiatric genomics have enabled the use of polygenic risk scores (PRSs) to quantify the cumulative genetic predisposition to MDD and treatment outcomes. This thesis …
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