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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 88 for “"allele frequency"”.

  1. Impact of Kras/Nras Mutational Heterogeneity On Clinical Outcomes In Colorectal Cancer

    Loree, Jonathan M, <p>0000-0001-8189-2132</p>2019

    … advanced, we are discovering atypical and low allele frequency mutations. We aimed to evaluate how NGS can optimally define <em>RAS</em> mutant CRC and the role of relative mutant allele frequency (rMAF) as a biomarker.</p> <p><strong>Methods: </strong>Using institutional and public cohorts of …

    uthsc Repository record

  2. Identification of genetic variation in the Keratin-associated protein and KRT33A genes of the Swakara sheep of Namibia

    Nyoni, Nellia FelicityUniversity of Namibia2020

    … KAP3.2) and KRT33A). The study also examined allele frequency distribution of the keratin genes in Swakara sheep in Namibia. Blood samples were collected from 168 Swakara sheep randomly selected from four farms; Neudamm, Gellap-Ost, Kalahari and Tsumis. Genomic Deoxyribonucleic acid (DNA) was …

    namibia Repository record

  3. The tide is high: Tidally-associated genetic markers of an invasive coastal crab in the Northwest Atlantic

    Bakari, KelaMassachusetts Institute of Technology and Woods Hole Oceanographic Institution2026

    … tidal conditions affected genetic variation and allele frequency patterns in four candidate markers hypothesized to be associated with tidal amplitude in this species. Expecting the patterns I found to closely mirror those previously discovered in the native range, I found that one of the four …

    woods-hole Repository record

  4. THE EFFECTS OF RARE GENETIC VARIANTS AND GENETIC ANCESTRY ON DRUG RESPONSE AND SEVERITY IN AIRWAYS DISEASES

    Ortega, Victor EnriqueWake Forest University2016

    … with lower lung function. Rare genetic variants (allele frequency <0.05) with strong effects and genetic ancestry have the potential to be genetic factors that determine drug response and severity in asthma and COPD.

    wfu Repository record

  5. Evolutionary and conservation genetics of the Seychelles warbler (Acrocephalus sechellensis)

    Wright, David JUniversity of East Anglia2014

    … consequences of Ase-ua4, an MHC class I allele previously shown to confer a survival advantage in the Seychelles warbler. I found widespread patterns of allele frequency increase within cohorts consistent with the survival effect, but no overall increase in population allele frequency …

    east-anglia Repository record

  6. Constructing a DNA profile frequency database for South Africa using the Qiagen Investigator 24plex GO! Kit

    Nel, LorraineDivision of Forensic Medicine and Toxicology2018

    … matched to a known reference sample. The use of allele frequencies from the background population aids the statistical interpretation of a match and can be used to calculate the random match probability. In South Africa, allele frequency data for the background population is currently limited, …

    cape-town Repository record

  7. The genetic basis of reproductive isolation in house mice: Studies of a European hybrid zone

    Payseur, Bret AllenThe University of Arizona.2003

    … Mus domesticus and M. musculus (Appendix A). Allele frequency patterns at 13 molecular markers with known chromosomal positions identify one region with clearly reduced introgression. This piece of the X chromosome may contain genes that confer reproductive barriers between M. domesticus and …

    arizona-thes Repository record

  8. Biochemical and Functional Analyses of PANX1 Variants

    Nouri Nejad, DanielThe University of Western Ontario2019

    … have also uncovered a highly conserved ancestral allele, Gln5His, that has a greater allele frequency than the derived allele Gln5 in global and cancer cohorts but was not associated with cancer aggressiveness. Furthermore, Gln5His also did not impact glycosylation, cell-surface localization and …

    uwo Repository record

  9. Asymptotic Analysis of Some Stochastic Models from Population Dynamics and Population Genetics

    Parsons, Todd2012

    … Moran’s continuous time Markov chain model of allele frequencies in haploid populations of fixed size with the density dependent models of ecological competition of Lotka, Volterra, Gause, and Kolmogorov. This allows for haploid populations of stochastically varying – but bounded – size. …

    toronto-retro Repository record

  10. A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy

    이, 종빈2014

    … and the unaffected parents, and I determined the allele frequency of the identified variants in an Asian population. Finally, I selected one candidate variant pair corresponding to an autosomal recessive genetic model. The two affected siblings had the same compound hetero zygous mutation in the …

    ajou Repository record

  11. Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia

    PIRAS, ROBERTAUniversità degli Studi di Cagliari2013

    … and Spain. In Sardinia the evaluation of the allele frequency for two out of the three founder mutations estimated a carrier frequency of 1,4% with an incidence of about 1 case per 20,700 newborns.

    cagliari Repository record

  12. Quantitative Analyses of Normal and Precancerous Somatic Evolution in Human Tissues

    Poon, Yeuk Pin GladysUniversity of Cambridge2022

    … mutations that hitchhike to high variant allele frequency are influenced by any driver mutation, regardless of type or location in the genome, and can therefore be used to estimate total levels of positive selection in healthy tissues. By comparing observed numbers of synonymous passengers …

    cambridge Repository record

  13. Complete computational sequence characterization of mobile element variations in the human genome using meta-personal genome data

    Girilishena, YaroslavaBrock University2017

    … that the SV characterization depends on the allele frequency and is influenced by the repetitiveness of flanking regions. Therefore, addressing these problems is a key to further improvements.

    brock Repository record

  14. Gene flow and population differentiation in two species of goodeid fishes (Cyprinidontiformes: Goodeidae)

    White, Matthew M.Virginia Polytechnic Institute and State University1983

    … do not necessarily imply genetic continuity and allele frequency homogeneity. Neighborhood effects (population subdivisions due to behavioral constraints such as homing or low vagility) were proposed as contributing to reductions in gene flow among populations from lakes and streams, but at least …

    vt Repository record

  15. Evaluation of microsatellite markers for parentage verification in South Africa Angora goats

    University of Pretoria2010

    … markers were evaluated based on the number of alleles, allele frequency, PIC, HE, HO and CPE of each individual marker and as a panel. Four microsatellite markers were excluded from the panel based on their poor performance for the above mentioned parameters. The panel of 14 markers allowed a …

    pretoria Repository record

  16. An investigation of the mechanism of PAX7 mediated oncogenesis via in silico and in vitro biology

    Mitchell, Maika G.Edith Cowan University, Research Online, Perth, Western Australia2006

    … where all heterozygous and thereby informative alleles are rendered homozygous in the cancer. This classical definition assumes that all data points are accurately identified and that all polymorphic alleles are mapped correctly within the genome. In this project we used in silica biology to …

    edithcowan Repository record

  17. Human host and malaria parasite genome variations to susceptibility to malaria

    Hordofa, HundaolDepartment of Clinical Laboratory Sciences2023

    … regions. For instance, the analysis of the minor allele frequency (MAF) proportion of all pharmacogenes variants obtained from the databases revealed that a high proportion of common variants (MAF > 0.05) of pharmacogenes were higher in the four African population from malaria endemic areas (MAF …

    cape-town Repository record

  18. Consequences of Pathogenic Mitochondrial DNA Mutations in Cancer Progression

    Shelton, Spencer Dewayne2026

    … tumor growth suppressed the pathogenic variant allele frequency (VAF) of mtDNA mutations. Lastly, chapter four analyzes renal cell carcinoma (RCC) patient-derived xenografts from the UT Southwestern Kidney Program, identifying RCC lines with either wildtype or pathogenic mtDNA mutations in …

    utswmed Repository record

  19. Evolution of Gene Regulation in Papio Baboons

    Vilgalys, Tauras Patrick2019

    … trait loci, meQTL) and differences in allele frequency between baboon species. I also show that changes in DNA methylation are associated with changes in gene expression. Finally, I identify genomic evidence for selection against admixture in baboons, especially near genes that are …

    duke Repository record

  20. 1,000 ancient genomes uncover 10,000 years of natural selection in Europe

    Le, Megan KhietThe University of Texas at Austin2023

    … 25 loci with evidence of rapid changes in allele frequency during these periods. All 10 candidate loci in the Historical period were detected in previous scans, with many associated with vitamin D metabolism. Strikingly, 17 out of 19 of the candidates from the Neolithic and Bronze Age …

    texas Repository record

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