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 “"Whole-exome Analysis"”.
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Genetic Determinants of Human Susceptibility to Infections: A Multi-faceted Exome-based Analysis in the UK Biobank
… studies (GWAS), particularly in the context of exome sequencing. This thesis begins with a comprehensive literature review, which explores how advancements in sequencing technologies and analytical methods have revolutionized our understanding of genetic contributions to complex traits, …
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The Search for Regulatory Mutations in Gitelman Syndrome
<p>The development of whole exome and whole genome sequencing technologies has allowed geneticists to gradually uncover a wide spectrum of rare, deleterious mutations with large effect sizes, which are responsible for Mendelian diseases. Roughly 70% of human genes are single copy and have orthologs …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… functional variants distributed through the whole exomes of individuals with fAD and sAD. Individuals with these forms of AD are descendants from the original founder of the Paisa pedigree and exhibit an extreme phenotype based on the ADAOO for this population. Quality control, filtering, and …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… functional variants distributed through the whole exomes of individuals with fAD and sAD. Individuals with these forms of AD are descendants from the original founder of the Paisa pedigree and exhibit an extreme phenotype based on the ADAOO for this population. Quality control, filtering, and …