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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 113 for “"single nucleotide polymorphism (SNP)"”.

  1. Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease

    Scholefield, JanineDepartment of Medicine2005

    … 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 …

    cape-town Repository record

  2. Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

    Berkowitz, Danielle ClaireDivision of Human Genetics2011

    … 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 …

    cape-town Repository record

  3. ST3GAL3 GENE MUTATION WITHIN THE SINGULAR NUCLEOTIDE POLYMORPHISM, RS3952787, POTENTIALLY COULD PREDICT ATTENTION DEFICIT HYPERACTIVE DISORDER, ANXIETY, AND DEPRESSION

    Balinski, Rebecca R2030

    … <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 …

    nmu Repository record

  4. Characterization of PRD-1 Mutation in Neurospora crassa

    Firoozi, Ghazaleh2014

    … 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 …

    york Repository record

  5. Semi-Parametric Testing of Single-Nucleotide Polymorphism Effects On Continuous Outcome

    He, Hong

    <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 …

    south-carolina Repository record

  6. Risk prediction with genomic data

    Jadhav, Bharati

    … 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, …

    njit Repository record

  7. Genomic analysis of mouse tumorigenesis

    Tam, Mandy Chi-MunMassachusetts Institute of Technology2006

    … study mouse tumorigensis: Representational Oligonucleotide Microarray Analysis (ROMA) for tumor DNA copy number asessment and single nucleotide polymorphism (SNP) genotyping using the SNaPshotM system (Applied Biosystems) to detect loss of heterozygosity (LOH) in mouse tumors. The murine version …

    mit Repository record

  8. The Genetics of General Cognitive Ability

    Kirkpatrick, Robert2013

    … plus other analyses that exploit genome-wide single-nucleotide polymorphism (SNP) data. Study #2 (N = 6,439) is an association study of a different class of genetic polymorphism, the copy-number variant (CNV). In this study, we detect CNVs from genome-wide SNP-allele-probe intensity data. We …

    umn Repository record

  9. A comparative analysis of machine learning algorithms for genome wide association studies

    Singh, Neha

    … 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 population and find their association with complex genetic disorders. …

    njit Repository record

  10. Sequence Analysis of PMEL17 as Candidate Gene for Causing Rat-Tail Syndrome in Cattle

    Hecht, Benjamin C.2006

    … 1 at codon 18 removing a leucine residue, and a single nucleotide polymorphism (SNP) at codon 612 resulting in an amino acid substitution (A?E). The 3-bp deletion in exon 1 of Pmel17 is in 100% concordance with the rat-tail phenotype in this research population and may be causative of the …

    byu Repository record

  11. Molecular cytogenetics and genetic characterisation of chromosomal rearrangements

    Shuib, SalwatiUniversity of Birmingham2011

    … of 3p25-p26 were analysed with high density single nucleotide polymorphism (SNP) microarrays; Affymetrix 250K SNP microarrays (n=14) and Affymetrix SNP6.0 (n=2). Assuming complete penetrance, a critical region for congenitalheart disease (CHD) susceptibility gene was refined to approximately …

    birmingham Repository record

  12. Force-extension of the Amylose Polysaccharide

    van den Berg, RudolfDepartment of Computer Science2009

    … of relevant regions of the DAF gene revealed a single nucleotide polymorphism (SNP), c.-198C>G, in the promoter region in MG patients of African genetic ancestry with severe EOM MG involvement (MG n=101; Control n= 132; Odds ratio= 6.6; p=0.009). DAF-luciferase reporter assays, using 3 different …

    cape-town Repository record

  13. THE ROLE OF MTHFR GENE MUTATION IN NEURODEVELOPMENTAL DISORDERS: EXPLORING POTENTIAL CORRELATIONS WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER AND ANXIETY

    Mehmood, Heba2025

    … the correlation between the MTHFR gene at the single nucleotide polymorphism (SNP) C677T to ADHD and anxiety. A group of 80 participants’ DNA samples were collected through cheek swabs following IRB approval. Participants completed several questionnaires to assess their signs and symptoms of …

    nmu Repository record

  14. Graphs, matrices, and populations : linear algebraic techniques in theoretical computer science and population genetics

    Levin, Alex, Ph. D. (Alexander). Massachusetts Institute of TechnologyMassachusetts Institute of Technology2013

    … an efficient and principled algorithm for using single nucleotide polymorphism (SNP) data to infer admixture history of various populations, and apply it to show that Europeans have evidence of mixture with ancient Siberians. Finally, we turn to the problem of RNA secondary structure design. In …

    mit Repository record

  15. Assessment of a Muscadine Grape (Vitis rotundifolia) Mapping Population for Tolerance to Pierce’s Disease Pathogen Xylella fastidiosa and Resistance to Black Rot Disease Pathogen Guignardia bidwellii

    Tennakoon, Anushka2026

    … association (GWAS) approach, based on 80,507 single-nucleotide polymorphism (SNP) markers. Results showed that only 10 genotypes were positive for PD during both seasons, and the average disease severity in the mapping population for black rot ranged from 0.09% to 14.10%. The GWAS analysis, …

    usm Repository record

  16. Novel Molecules that Regulate Bone Formation and Bone Resorption

    Linares, Gabriel Robert

    … of osteoblast differentiation. In addition, a single nucleotide polymorphism (SNP) in the promoter of human DOR gene associated with plasma levels of the bone formation marker, osteocalcin, in men. Targeted disruption of the tight junction protein, Cldn-18, in mice led to significant deficits …

    loma-linda Repository record

  17. Genome-wide sequencing and an open reading frame analysis of DDT susceptible (91-C) and resistant (91-R) Drosophila melanogaster laboratory populations

    Steele, LauraUniversity of Illinois at Urbana-Champaign2012

    … also observed on each individual chromosome. Single-nucleotide polymorphism (SNP) and deletion/insertion polymorphism (DIP) analysis yielded 710 total ORF mutations in the 91-R fly line with a total of 138 genes containing SNPs/DIPs from only the 91-R fly line. Examination of these 91-R only …

    uiuc Repository record

  18. Development of a SNP Assay for the Differentiation of Allelic Variations in the mdx Dystrophic Mouse Model

    Misyak, Sarah A.Virginia Tech2008

    … a screening tool. An alternative assay based on single nucleotide polymorphism (SNP) extension technology (i.e., SNaPshot®) would be advantageous because its specificity and capability to be automated would reduce the labor involved and increase the fidelity of each assay. A SNaPshot® assay has …

    vt Repository record

  19. The Use Of Pyrosequencing For The Analysis Of Y Chromosome Single Nucleotide Polymorphisms

    Fletcher, Jeremy Charles

    … dedicated to Short Tandem Repeat analysis and Single Nucleotide Polymorphism (SNP) discovery. This study examined the ability of two different SNP analysis methods to determine if they could be utilized in forensic applications and ultimately be developed into an established system for Y …

    ucf

  20. Cancer risk prediction with next generation sequencing data using machine learning

    Patel, Nihir

    … From the samples, structural variants, namely, Single Nucleotide Polymorphism (SNP) and Insertion Deletion (INDEL) are identified and are filtered using SAMtools as well as with Genome Analyzer Tool Kit (GATK). Subsequently, the variants are encoded and feature selection is performed with the …

    njit Repository record

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