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 4 of 4 for “"PheWAS"”.
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Genetic Determinants of Human Susceptibility to Infections: A Multi-faceted Exome-based Analysis in the UK Biobank
… conducted a phenome-wide association study (PheWAS), revealing 304 significant associations between 25 genetic variants and 98 diverse phenotypic traits. Colocalisation analyses identified 36 instances of shared genetic effects across multiple traits, highlighting the potential pleiotropic …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
… and phenome-wide association study (PheWAS), highlighted downregulation of MRC1 in patients with advanced fibrosis and hepatocellular ballooning, further linking this locus to inflammatory mechanisms of liver injury. Along with locus discovery, polygenic risk scores (PRSs) were …
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Early Life Determinants of Metabolic and Reproductive Health
… for conducting phenome-wide association studies (PheWAS), which is used to explore the extent to which both BMI and sex hormone exposure act as mediating factors to explain the link between earlier puberty and heightened reproductive health risks. I go on to examine mechanisms linking early life …
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Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes
<p>Reverse genetics methods, particularly the production of gene knockouts and knockins, have revolutionized the understanding of gene function. High throughput sequencing now makes it practical to exploit reverse genetics to simultaneously study functions of thousands of normal sequence variants …