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 8 of 8 for “"rare variation"”.
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Integration of common and rare genetic variation across complex traits and neuropsychiatric disorders
… sequencing has catalogued patterns of ultra-rare variation and associations with complex traits and diseases. However, there has been relatively little progress integrating the insights from studies of common and rare genetic variation. In this thesis, we present methods and applications …
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Quantifying recent variation and relatedness in human populations
… can also be used to interrogate unascertained rare variation and help in locating trait-effecting loci. This work presents methods for comprehensive analysis of population-wide IBD and explores applications to disease and the understanding of recent genetic variation. We propose several …
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Elucidating the genetic aetiology of Bipolar Disorder
… eight members of an Afrikaner family to identify rare, coding variation. These two approaches were used to identify both common and rare variation which may be involved in BD. Results: FBAT indicated that variants in the genes ACTN2 (rs4659702) and ANK3 (rs10994318) are associated with BD in a …
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Rare Variant Association Studies In Crohn’S Disease and Colorectal Cancer: Methods and Applications
… these diseases, but disease susceptibility from rare variants is incompletely understood. This dissertation includes three chapters, two association studies for Crohn’s disease and CRC, and a statistical method to improve the power of statistical tests.</p> <p>For Crohn’s disease, we performed …
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Identification and Characterization of Rare Variants in Cholinergic Nicotinic Receptor Genes and their Contribution to Substance Dependence
… studies: GWAS) have identified common variation in the <italic>CHRNA5-CHRNA3-CHRNB4</italic> and <italic>CHRNA6-CHRNB3</italic> gene clusters that contribute to nicotine dependence. However, the role of rare variation in risk for substance dependence in these nicotinic receptor genes …
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Common genetic variation and spliceosome variants in rare developmental disorders
Although thousands of rare disorders are caused by single, deleterious, protein- coding variants, evidence suggests that common variants also contribute to risk for rare, neurodevelopmental disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as …
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Methods for Determining the Genetic Causes of Rare Diseases
… hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
… These variants are enriched at the extremely rare end of the allele frequency spectrum (< 0.1%), suggesting purifying selection against these sites. However, most previous population-based sequencing studies have not included analysis of genotype-phenotype relationships with LOF variants. …