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 32 for “"genetic variant"”.
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User-Centered Design of a Collaborative Genetic Variant Interpretation Tool
Precision genomic medicine relies upon accurate variant knowledge. However, laboratories continue to arrive at discordant interpretations for the same genomic test. Gaps, inconsistencies, and siloing of variant knowledge may contribute to inter-rater discordance in variant interpretation. Our …
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NOVEL APPROACHES IN GENETIC VARIANT DISCOVERY AND CLASSIFICATION TACKLING UNSOLVED PROBLEMS IN CANCER CLINICAL GENOMICS
Accurate interpretation of germline and somatic variants plays a pivotal role in clinical practice, providing the foundation for the correct diagnosis and targeted therapy in personalized medicine. However, variant classification is a complex process that requires the integration of multiple, often …
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Oxytocin and Social Sensitivity: Implications for Vulnerability to Stress and Depressive Symptoms
… In Study 1 (N = 288), it was determined that a genetic variant on the oxytocin receptor gene (OXTR) moderated the influence of early-life events in relation to later depressive symptoms. In the absence of this polymorphism individuals who experienced early-life maltreatment displayed high levels …
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The role of Serum Amyloid A1(SAA1) in coronary artery disease
… remains unknown. In addition, no prior genetic epidemiology study has been conducted on SAA1. Methods and results: Genetic variant screening was performed using cord blood DNA samples from 96 anonymous, unrelated Singaporean Chinese neonates delivered in the National University Hospital, …
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Towards an evolutionary perspective of bipolar disorders: Is there a genetic link between bipolar disorders and non-pathological (adaptive) hyperactivity?
… to the results regarding the investigated genetic variant (RS1006737) of the CACNA1C gene, an association was found with the characteristics of hyperactivity rather than just BD. Also, this genetic variant, recognized in the literature as associated with bipolar disorders, was found in …
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Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy
… identified; this study focused primarily on the genetic causes of arrhythmogenic right ventricular cardiomyopathy (ARVC). Many genes are implicated in ARVC pathogenesis, but many remain to be identified. We investigated a South African family (ACM2) with autosomal dominant ARVC, for whom the …
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Statistical issues in Mendelian randomization: use of genetic instrumental variables for assessing causal associations
… is an epidemiological method for using genetic variation to estimate the causal effect of the change in a modifiable phenotype on an outcome from observational data. A genetic variant satisfying the assumptions of an instrumental variable for the phenotype of interest can be used to …
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Computational Tools and Analyses for Improved Inference of Variant Effects
… With over 50% of clinically interpreted missense variants classified as “variants of uncertain significance” (VUSes), multiple approaches are needed to improve variant interpretation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible missense variants in …
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Robust methods in Mendelian randomization
Mendelian randomization uses genetic variants as instrumental variables to estimate the causal effect of a risk factor on an outcome using observational data. If a genetic variant is included in a Mendelian randomization study that does not satisfy the instrumental variable assumptions then the …
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Genetic Factors Associated with Anti-Factor H Autoantibodies in Atypical Hemolytic Uremic Syndrome (aHUS)
… characterized by renal failure and determined by genetic and acquired defects of alternative pathway (AP) of the complement system. Autoantibodies against factor H (anti-FHs), a regulator of the AP, were reported in 10% of patients, and are associated with the deficiency of factor H related 1 …
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Elucidating the Genetic Basis of Fuchs Endothelial Corneal Dystrophy
… and Asian ancestry have started to explain the genetic basis of this disorder, the mechanism by which FECD develops is still unclear. Three projects were undertaken to help elucidate the genetic basis of FECD. The first project examined a large, multigenerational family that exhibited strong …
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Characterization of genetic reassortment and recombination potentials between Arumowot Virus and MP-12 vaccine strain
… be characterized. My central hypothesis is that genetic reassortment or recombination between two phleboviruses can occur when a loss or swap of gene element does not deteriorate the viability of resulting viruses. The overall objective of this study is to analyze genetic reassortment or …
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Associations between traits (blood pressure and body height growth) and reproductive timing related genetic variants from genome-wide association studies
… studies (GWAS) have identified many common genetic variants that are associated with women’s reproductive timing characteristics including ages at menarche and at natural menopause. However, the associations of these variants with other human health related phenotypes such as blood pressure, …
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Aberrant assembly and function of a hippocampal circuit in a genetic mouse model of schizophrenia
Schizophrenia is highly heritable yet very few genetic risk variants have been unequivocally linked to the disease. Disrupted in Schizophrenia 1 (DISC1), was first discovered in a family with a balanced translocation t (1; 11) (q42; q14) and a history of psychiatric disease that segregates with the …
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Data-Intensive Biocomputing in the Cloud
… of health-care innovations based on personalized genetic information. However, these NGS technologies generate data at a rate that far outstrips Moore\'s Law. As a consequence, analyzing this exponentially increasing data deluge requires enormous computational and storage resources, resources that …
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The Role of Interferon Stimlated Genes in Resistance and Immunity to Hepatitis C Virus Infection
… order to evaluate the biological relevance of a genetic variant of the oligoadenylate synthetase 1 (OAS1) gene in resistance to HCV infection, an integrated approach of epidemiology, molecular genetics, and functional biology was used. Genetic and epidemiologic analyses identified a single-base …
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Cognitive and brain markers in presymptomatic genetic behavioural variant frontotemporal dementia: a case-control study
… family members of a kindred carrying the MAPT genetic variant for behavioural variant frontotemporal dementia (bvFTD-MAPT), who are part of the FTDGeNZ study, with the aim of identifying early behavioural, cognitive and neural changes in gene-positive family members. Study one aimed to …
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An investigation of genetic polymorphism in association with Type 2 diabetes and metabolic syndrome.
… countries. Various studies have suggested the genetic susceptibility to the disorders. The main aim of the thesis was to investigate the putative association of single nucleotide polymorphisms with Type 2 diabetes (T2D), metabolic syndrome (MetS) and the major components of metabolic syndrome. …
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Interaction between dietary factors and genetic risk for lipoprotein traits and cardiovascular disease
… This may be due to individuals having varied genetic profiles that are differentially associated with CVD. In genome-wide association studies (GWAS), genetic variations in the fatty acid desaturase gene (FADS1), which encodes the FADS1 enzyme, have been associated with blood lipid and …
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