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 209 for “"Single nucleotide polymorphism"”.
-
Linear clustering with application to single nucleotide polymorphism genotyping
Single nucleotide polymorphisms (SNPs) have been increasingly popular for a wide range of genetic studies. A high-throughput genotyping technologies usually involves a statistical genotype calling algorithm. Most calling algorithms in the literature, using methods such as k-means and mixturemodels, …
-
Genome complexity reduction for genome-wide single nucleotide polymorphism analysis
Millions of single nucleotide polymorphisms (SNPs) have been identified in the human genome, and more are cataloged every day. The challenge now is to use these SNPs to discover the genetic risk factors underlying common and complex diseases. Efficient, large-scale genotyping methods are one …
-
Semi-Parametric Testing of Single-Nucleotide Polymorphism Effects On Continuous Outcome
<p> To detect association between Single Nucleotide Polymorphism (SNP) and disease, extensive investigations have been conducted. Most work has focused on testing SNP effect one by one due to the difficulty of including a large number of SNPs in a statistical model. In this thesis, we explored a …
-
Functional Analysis of Risk Single Nucleotide Polymorphism and Long Noncoding RNA in Prostate Cancer
… Studies (GWAS) identifying over 150 risk single nucleotide polymorphisms (SNPs). While these risk SNPs are associated with prostate cancer predisposition and a few also associated with disease progression, their functional mechanisms remain elusive. Here, I evaluated the association of the …
-
The Influence of a Single Nucleotide Polymorphism In The Matrix Metalloproteinase-1 Promoter on Glioma Biology
… with gliomas being an exception. We studied a single nucleotide polymorphism (SNP) in the MMP-1 promoter that may influence glioma biology. This SNP consists of the presence (2G) or absence (1G) of a guanine nucleotide at position -1607. The additional guanine nucleotide creates a binding site …
-
The impact of a single nucleotide polymorphism in fusA1 on biofilm formation and virulence in Pseudomonas aeruginosa
… are largely undefined. In this dissertation, a single nucleotide polymorphism was identified within the gene, fusA1, encoding elongation factor G (EF-G). The mutation introduced minor structural changes to the protein which were likely to have functional repercussions in its involvement in …
-
Mapping of monogenic and quantitative trait loci using a whole genome scan approach and single nucleotide polymorphism platforms
… the door for the development of high density single nucleotide polymorphism (SNP) panels that can be used for linkage disequilibrium mapping of traits in cattle populations. The BovineSNP50 Beadchip, containing 54,001 SNP markers, was released in 2008 and the recently released BovineHD …
-
Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
… to detect genome-wide high resolution CN and single nucleotide polymorphisms (SNPs) in a cohort of 27 carefully selected patient samples. The patient selection was done based on relevant phenotypes, which included dysmorphism, ID/DD, suspected syndromes, and family history. Data analysis was …
-
Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
… mutation in South Africa (SA) by constructing a single nucleotide polymorphism (SNP) haplotype around the IT15 gene and to determine how many haplotypes there are in SA. Haplotypes were created by genotyping 6 SNPs in a total of 15 HD families. These families were comprised of seven Caucasian, 6 …
-
Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
… to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has been linked to the SCA7 mutation in all South African patients genotyped to date. Recently, this SNP has been exploited in a potential allele-specific RNA interference (RNAi) based therapy, in …
-
ST3GAL3 GENE MUTATION WITHIN THE SINGULAR NUCLEOTIDE POLYMORPHISM, RS3952787, POTENTIALLY COULD PREDICT ATTENTION DEFICIT HYPERACTIVE DISORDER, ANXIETY, AND DEPRESSION
… <em>ST3GAL3</em> gene mutation within a specific single nucleotide polymorphism (SNP) that may be playing a role in the development of ADHD, along with anxiety and depression, as these two disorders are commonly diagnosed alongside ADHD. Loop-mediated isothermal amplification (LAMP) will be the …
-
Characterization of PRD-1 Mutation in Neurospora crassa
… mapping the mutation using PCR analyses based on single nucleotide polymorphism (SNP) markers. After determining a minimal interval, candidate genes were sequenced, and knockout mutants were screened in this interval for prd-1 phenotype. A candidate gene was found to have a mutation that affects …
-
Genetic Association Mapping : Missing Markers, Epistatic Effects, and Applications
… We also applied these methods to determine SNP (single nucleotide polymorphism) markers with potential epistasis associated with agronomic traits in two crops: barley and wheat.</p>
-
BEHAVIOURAL ANALYSIS OF ZEBRAFISH RELAXIN-3A MUTANT
… response compared to wildtype siblings. A single nucleotide polymorphism (c.158C>T) was found, resulting in a non-synonymous mutation in the coding sequence of the C-peptide. Fish with the c.158C>T polymorphism had increased activity in visual motor response that was dependent on genetic …
-
Genomic selection studies in sheep using simulation and real data
… 2,000 ewes and 200 rams per generation, 50,000 single-nucleotide polymorphism genotypes, and 300 underlying quantitative trait loci. Genomic selection yielded up to 77% more cumulative genetic gain compared to phenotypic selection. However, it also resulted in a rapid reduction of additive …
-
COMT Genotype, Schizophrenia, and Dopamine Transmission
… schizophrenia and their unaffected siblings. A single nucleotide polymorphism of the COMT gene results in a MET-->VAL shift at codon 158, increased enzyme thermostability, and increased enzymatic activity. The hypothesized result of this shift is decreased dopamine transmission in the brain area …
-
Risk prediction with genomic data
… this widely used approach of GWAS using Single Nucleotide Polymorphism (SNP) genotype data and a novel approach of disease risk prediction with whole exome sequencing data, namely Whole Exome Wide Association Study (WEWAS). It further applies a discriminating machine learning algorithm, …
Page 1 of 11