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 23 for “"Polygenic risk scores"”.
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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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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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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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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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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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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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Are maternal symptoms of depression/PTSD and Child Genetic risk scores for depression/PTSD associated with childhood subcortical brain volumes?
… Asian and European populations has linked child polygenic risk scores (PRSs) for depression and maternal antenatal symptoms (E) to child subcortical brain volumes, these associations remain unexplored in African populations. Moreover, PRSs for post-traumatic stress disorder (PTSD) have not been …
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DISSECTING THE POLYGENIC LANDSCAPE OF HUMAN COMPLEX TRAITS AND DISEASES IN A SOUTHERN ITALIAN COHORT
… 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 cohort, a large population-based study from Southern …
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The Need For Racial and Ethnic Health Disparity Curriculum In Genetic Counseling Programs
… significance results and population bias in polygenic risk scores, and (3) historical and political topics related to marginalized groups, such as the history of the eugenics movement and reproductive justice and policies. In open ended responses, most GCs expressed needing education on …
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Evaluating and enhancing cardiovascular disease risk prediction with algorithmic fairness
… cause of morbidity and mortality worldwide, with risk prediction models in widespread clinical use. Yet much remains unknown about the performance of CVD risk prediction models in specific subgroups, and disparities in predictions can exacerbate health inequities. Algorithmic fairness, a research …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
… liver disease worldwide and a significant risk factor for cirrhosis and hepatocellular carcinoma (HCC). Despite its pathogenesis being determined by both environmental and genetic determinants, the genetic component of fibrosis progression is still only partially known, particularly in the …
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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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Genetic and epigenetic associations with child development and mental health in a South African birth cohort
… is growing interest in the associations between polygenic risk scores (PRS), epigenetic age (EA) deviation, DNA methylation risk scores (MRS), and key neurodevelopmental disorders such as attention-deficit hyperactivity disorder (ADHD). However, most work has thus far been undertaken in …
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Proteomic Signatures of Type 2 Diabetes and Related Metabolic Traits
… strategies to identify individuals at high-risk. However, the aetiology of this heterogenous disease remains incompletely understood, and some subgroups are poorly predicted or overlooked. The main aim of this thesis was to identify plasma proteomic signatures for improved risk prediction …
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Cardiovascular disease risk prediction models: does one-score-fit-all?
… and severe COVID-19 are particularly at elevated risk of developing CVD, highlighting the need for precise and equitable risk prediction tools. The changing landscape of CVD, partly due to the COVID-19 pandemic disrupting patterns of CVD incidence and care delivery, and partly due to the rising …
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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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