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.
Results
Showing 1 to 20 of 22 for “"genomic variants"”.
-
Methods and models of screening genomic variants
Genomes are the basis of human biology and human disease. Understanding the role of each gene on a healthy or diseased phenotype requires an intervention to causally link between genotype and phenotype. Advances in RNA-guided endonucleases have enabled such pooled screens in human cells. I first …
-
MAPPING GENOMIC VARIANTS ASSOCIATED WITH FUNCTIONAL AND HEALTH TRAITS IN DAIRY CATTLE POPULATION
This thesis aimed to integrate high-resolution genomic data with longitudinal phenotypes collected through Automatic Milking Systems (AMS). The objective was to investigate genetic variability, resilience, and udder health in Holstein dairy cattle. By combining genomic tools, sensor-derived time …
-
Approaches to Reduce Selection of Genomic Variants in Human Pluripotent Stem Cell Culture
Optimizing culture conditions that reduce genomic instability in human pluripotent stem cells (hPSCs) is an unmet challenge in the field. Results from our lab and numerous research groups demonstrate that hPSCs are prone to genomic aberrations and single-cell passaging increases the rate of genomic …
-
Mining Genomic Variants And Causal Pathways Linking Hdl And Triglycerides To Coronary Disease
… discovery of causal rare coding and noncoding variants at candidate loci influencing HDL-C and TGs. Collectively, this work provides a sampling of approaches for leveraging the spectrum of genomic methods to identify clinically relevant variants impacting HDL, TG and CHD risk.
-
Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort
… Moreover, there are multiple other loci and variants in the genome that have been associated with CKD in many populations, and that are used for Polygenic Risk Score (PRS) models but have not been explored in populations living in Africa. Aims This project aimed to study in a sub-Saharan …
-
Applications of Machine Learning in Source Attribution and Gene Function Prediction
… of machine learning techniques in computational genomics across two distinct domains: (1) the predicting the source of bacterial pathogen using whole genome sequencing data, and (2) the functional annotation of genes using single- cell RNA sequencing data. This work proposes the development of a …
-
Accurate Mutation Annotation and Functional Prediction Enhance The Applicability of -Omics Data In Precision Medicine
… detection, annotation and interpretation of the variants that are observed in clinical sequencing data. In my Ph.D thesis work, I mainly investigated how to comprehensively and efficiently apply high dimensional -omics data to enhance the capability of precision cancer medicine. Following this …
-
Multi-Platform Molecular Data Integration and Disease Outcome Analysis
… data and the underlying biology. Advances in genomic techniques provide unprecedented power of characterizing the cancer tissue in a more complete manner than before, opening the opportunity of designing biologically informed and integrative approaches for survival analysis. Many cancer …
-
Applying deep learning technologies to discovery and characterization of genetic variants in animal genomes
The scale of publicly available genomic data has rapidly expanded by an order of magnitude within the last decade. However, research with these aggregated public data requires minimizing the accumulated systematic bias introduced by software and sequencing platforms. Even a tiny improvement in the …
-
High throughput screen for cells with high extracellular metabolite consumption--secretion rates using microfluidic droplets
… libraries are constructed harboring random genomic variants of the host or other strains, cells with superior properties are selected, and genetic inserts impacting the superior phenotype are characterized. While many strategies can be deployed in library construction, broad applicability of …
-
HUMAN GENOME VARIATIONS AND EVOLUTION WITH A FOCUS ON THE ANALYSIS OF TRANSPOSABLE ELEMENTS
… create one of the most abundant structural variants in the human genome and are divided in many families, with certain members in some families, e.g., L1, Alu, SVA, and HERV-K, remaining active for transposition. Along with other types of genomic variants, retrotransponson-derived variants …
-
aCGH en la consulta de neuropediatría: significado clínico e implicación pronóstica
… of 365 aCGH studies were reviewed. Subsequently, genomic variants identified were cross-referenced with information available in relevant repositories and databases, aiming to construct a dedicated database comprising the identified variants. This database served the purpose of evaluating …
-
Wastewater-Based Genomic Epidemiology
… pandemic was shaped by the emergence of viral variants with increased transmissibility or immune escape, which drove successive waves of infection and reinfection. Genomic surveillance has become a cornerstone of pathogen monitoring, but clinical sequencing remains expensive, logistically …
-
Modeling the Effects of Mechanical Loading on Hypertrophic Cardiomyopathy Pathogenesis in Human Induced Pluripotent Stem Cell derived Micro Heart Muscle
… patients from the same family with identical genomic variants develop different symptoms. Non-genetic, environmental factors such as blood pressure are critical in heart function and disease. Therefore, understanding how mechanical factors contribute to phenotypes in diseases like hypertrophic …
-
An evaluation of genomic factors and their importance in etiopathogenesis of congenital heart diseases /
… is to determine and evaluate the importance of genomic variants and of candidate genes in etiopathogenesis of congenital heart diseases. This piece of research was carried out on 132 subjects with CHDs. Phenotypic heterogeneity and complexity is typical to CHDs. Single nucleotide polymorphism – …
-
Genominių veiksnių įvertinimas ir reikšmė įgimtų širdies ydų etiopatogenezėje /
… is to determine and evaluate the importance of genomic variants and of candidate genes in etiopathogenesis of congenital heart diseases. This piece of research was carried out on 132 subjects with CHDs. Phenotypic heterogeneity and complexity is typical to CHDs. Single nucleotide polymorphism – …
-
Molecular characterization of trypanosomes commonly found in cattle, wild animals and tsetse flies in Kwazulu-Natal, South Africa, 2005-2007
… biological reagents (primers targeting different genomic loci) and methods (PCR and RFLP) to detect and characterize trypanosomes in cattle, wild animals and tsetse flies in KwaZulu-Natal, thus contributing to improved understanding of the genetic diversity of trypanosome species infecting cattle …
-
Novel Microsatellite Detection, Microsatellite Based Biomarker Discovery In Lung Cancer And The Exome-Wide Effects Of A Dysfunctional DNA Repair Mechanism
Since the dawn of the genomics era, the genetics of numerous human disorders has been understood which has led to improvements in targeted therapeutics. However, the focus of most research has been primarily on protein coding genes, which account for only 2% of the entire genome, leaving much of …
-
Molecular phenotypes associated with heifer fertility
… was to identify different biological molecules (genomic variants, genes, proteins, and metabolites) whose abundance differed between heifers with varying fertility potential. Investigation into DNA variations led to the identification of three variants that were associated with fertility, 16 …
-
Improved prediction and optimal sequencing strategies for genomic variant discovery via Bayesian nonparametrics
… limited budget. For instance, sequencing new genomic data is a complex procedure that requires careful tuning: researchers can spend resources to sequence a greater number of genomes (quantity), or spend resources to sequence genomes with increased accuracy (quality). In this thesis, I …
Page 1 of 2