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 129 for “"Genome-wide association studies (GWAS)"”.
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C6 and C9 volatile compounds in 223 cucumbers (cucumis sativus L.) In Genome-Wide Association Studies (GWAS)
… aimed to quantify C6 and C9 compounds in 223 GWAS cucumber varieties. A comprehensive analysis of volatiles was performed using solid-phase microextraction gas chromatography-mass spectrometry (SPME-GC-MS). Hexenal (1.27–15.28 ppm) was the predominant volatile, followed by (E)-2-hexenal …
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Quantification of sugars and organic acids in 210 cucumber (cucurbis sativus) varieties for genome-wide association studies (GWAS)
… information on the sugar and acid contents in Genome-Wide Association Study (GWAS) cucumbers. This study aimed to measure total soluble solid content (ºBrix), three main sugars via high-performance liquid chromatography (HPLC), pH, titratable acidity (TA), and three main organic acids via HPLC …
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Towards constructing disease relationship networks using genome-wide association studies
Background: Genome-wide association studies (GWAS) prove to be a powerful approach to identify the genetic basis of various human[1] diseases. Here we take advantage of existing GWAS data and attempt to build a framework to understand the complex relationships among diseases. Specifically, we …
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SafeGENIE: Secure and federated linear mixed model association tests
Privacy-preserving algorithms for genome-wide association studies (GWAS) promise to facilitate data sharing across silos to accelerate new discoveries. However, existing approaches do not support an important, prevalent class of methods known as linear mixed model (LMM) association tests or would …
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Whole genome regulatory variant evaluation for transcription factor binding
… advent of high-throughput sequencing technology, Genome Wide Association Studies (GWAS) have identified thousands of genetic variants that are associated with disease and complex traits. Many of these variants reside in the non-coding region of the genome, and affect gene expression and downstream …
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Pathogen phylogenies for public health
An organism’s genome sequence is a rich source of information on its current characteristics and its evolutionary history. In this thesis, I refine and apply methods to extract information from pathogen genome sequences via phylogenetic reconstructions. I extend existing phylogeny-based models to …
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Developing Bottom-Up, Integrated Omics Methodologies for Big Data Biomarker Discovery
… of next generation sequencing (NGS) and genome-wide association studies (GWAS) datasets. These data sets are often complex, poorly annotated or require complex domain knowledge to sensibly manage. These novel datasets provide a rare, multi-dimensional omics (proteomics, transcriptomics, …
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Statistical methods to infer biological interactions
… the effects of related individuals on standard association statistics for genome-wide association studies (GWAS) and introduce a new statistic that corrects for relatedness. Then, we introduce a statistically powerful association testing framework that corrects for confounding from population …
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Principled "convergence" non-coding rare variant association testing in complex disease
… of these diseases are still unknown. Thus far, genome-wide association studies (GWAS) have only explained a small proportion of disease heritability, indicating that there is a large number of additional loci that contribute to complex diseases like type 2 diabetes (T2D), which is the primary …
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Computational methods to dissect the genetic basis of human disease
Genome-wide association studies (GWAS) have been successful in identifying disease-associated genetic variants. However, the path from GWAS to biological insight remains challenging, notably in identifying relevant biological pathways, explaining mechanistic links between diseases, and nominating …
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The Parallax of Personalized Medicine: A Critical, Socio-Medical Analysis of the Trajectory of Pharmacogenomics and Genome Wide Association Studies
… and medical processes like pharmacogenomics and Genome Wide Association Studies (GWAS) may further perpetuate medical inequity, health disparities, and discrimination. Thus, it is important that we (in the medical community) acknowledge and delegitimize the use of race and racialization in …
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Obesity and Health in the CHRIS study
… focus was then on implementing and applying a Genome-Wide Polygenic Score for obese participants. These scores were computed for individuals based on the presence of different genetic variants weighted according to their measured effects in genome-wide association studies (GWAS). We then paid …
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A comparative analysis of machine learning algorithms for genome wide association studies
Variations present in human genome play a vital role in the emergence of genetic disorders and abnormal traits. Single Nucleotide Polymorphism (SNP) is considered as the most common source of genetic variations. Genome Wide Association Studies (GWAS) probe these variations present in human …
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Rice and mouse quantitative phenotype prediction in genome-wide association studies with support vector regression
… tests. The scientific community conducted many studies to find unobserved quantitative phenotype high predictive ability models. Early genome-wide association studies (GWAS) focused on genetic variants that are associated with disease or phenotype, however, these variants manly covers small …
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Integrity of the Barrier Epithelium in Drosophila Gut is Mediated by Factors That Regulate Intestinal Stem Cell Activity
… ISCs in the posterior midgut. Exploratively, two genome-wide association studies (GWAS) using the Drosophila genetic reference panel (DGRP) were performed, and genetic candidates with functionally unknown effects on both ISC proliferation and gut flora homeostasis in an aged invertebrate tissue …
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Using single-cell RNA-seq to assess the effect of common genetic variants on gene expression during development
Over the last fifteen years, genome-wide association studies (GWAS) have been used to identify thousands of DNA variants associated with complex traits and diseases, by exploiting naturally occurring genetic variation in large populations of individuals. More recently, similar approaches have been …
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Phenotype prediction and feature selection in genome-wide association studies
Genome wide association studies (GWAS) search for correlations between single nucleotide polymorphisms (SNPs) in a subject genome and an observed phenotype. GWAS can be used to generate models for predicting phenotype based on genotype, as well as aiding in identification of specific genes …
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Characterization of Gene-by-Age Interaction and Gene-by-Gene Interaction In Coronary Artery Disease
<p>The success of genome-wide association studies (GWAS) has been limited by missing heritability and lack of biological relevance of identified variants. We sought to address these issues by characterizing interaction among genotypes and environment using case-control samples enrolled at Duke …
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Preserving patient privacy in biomedical data analysis
… Motivated by cohort selection in medical studies, we develop an improved method for releasing differentially private medical count queries. We then turn our eyes towards differentially private genome wide association studies (GWAS). We improve the runtime and utility of various privacy …
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Functional Analysis of Risk Single Nucleotide Polymorphism and Long Noncoding RNA in Prostate Cancer
… diagnosed non-cutaneous cancer in men worldwide. While most low-risk prostate cancer patients have a favourable clinical outcome, intermediate- and high-risk patients with aggressive forms of the disease often relapse despite the initially effective local and conventional …
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