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 genetic variation"”.
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Investigation of Rare Genetic Variation in Autism Spectrum Disorder by Genomic Screens
… ASD is highly heritable, however known genetic factors that contribute to ASD explain ~30% of cases, with each factor contributing to <1% of cases. The genetic and phenotypic heterogeneity of ASD reduces the power to identify causative genes. Furthermore, even with the growing number of …
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Integration of common and rare genetic variation across complex traits and neuropsychiatric disorders
Research into the genetic basis of human disease has progressed rapidly over the past 20 years. Genome-wide association studies have identified thousands of links between common variants and phenotypic outcomes. More recently, whole exome and genome sequencing has catalogued patterns of ultra-rare …
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Deep learning of regulatory sequence variation in Pulmonary Arterial Hypertension
Pulmonary arterial hypertension (PAH) is a rare and fatal lung disease. To date, in only a third of idiopathic patients, the cause can be attributed to rare genetic variation in the protein-coding space. The sequencing of 13,343 whole genomes by the NIHR BioResource for Translational Research – …
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Mining Genomic Variants And Causal Pathways Linking Hdl And Triglycerides To Coronary Disease
… HDL-C and TG to CHD remains controversial. New genetic methodologies have allowed a better look into causal pathways underlying relationships between these traits and disease. Using a combination of approaches for interrogating rare genetic variation in humans, we investigated how HDL and TG may …
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Computational Contributions Towards Scalable and Efficient Genome-wide Association Methodology
… studies are experiments designed to find the genetic bases of physical traits: for example, markers correlated with disease status by comparing the DNA of healthy individuals to the DNA of affecteds. Over the past two decades, an exponential increase in the resolution of DNA-testing technology …
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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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Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model
… 3% of the pediatric population. Despite a strong genetic basis, genetic risk factors for AIS are unknown and the pathogenesis remains poorly understood, which has been further hindered by the lack of a relevant animal model. Therefore, we used multiple approaches to better understand the genetic …
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The Genetics of IBD: From Susceptibility to Drug Response and Patient Outcome
… of high effect size amongst the common genetic variants. Interestingly, I was not able to replicate the association in PTPN22, which was reported to be a risk factor for drug-induced liver damage by Cirulli et al. – suggesting that its effect might be heterogeneous depending on the …