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 45 for “"Genotype data"”.
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Analysis and standardization of marker genotype data for DNA fingerprinting applications
… of a particular individual is referred to as its genotype. A wide range of genotyping techniques have been developed to detect and visualize genetic polymorphisms. One such technique examines highly polymorphic repetitive DNA regions called microsatellites, also called “short tandem repeats” …
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Applying generative adversarial networks to generate artificial genotype data in livestock
Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2027-08-01
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Exploring new methodologies to identify disease-associated variants in African populations through the integration of patient genotype data and clinical phenotypes derived from routine health data: A case study for Type 2 Diabetes Mellitus in patients in the Western Cape Province, South Africa
… populations through the integration of patient genotype data and clinical phenotypes derived from routine health data: A case study for Type 2 Diabetes Mellitus patients in the Western Cape Province, South Africa. Abstract Introduction There is poor knowledge on the genetic drivers of disease in …
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Identification of loci for resistance to Sclerotinia stem rot (white mold) in accessions of perennial relative of soybean (Glycine latifolia)
… (MD5) Appendix F. GBS SNP genotype data for F5 mapping population.docx: 172727 bytes, checksum: bf91fb795a690e38c804b485113812ee (MD5) Appendix E. GBS SNP genotype data for F2 mapping population.docx: 211005 bytes, checksum: 23a1a3f5465ce51498cbfc28248b8e23 (MD5) Appendix D. …
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Algorithms For Haplotype Inference And Block Partitioning
… associated with empirically collecting haplotype data is prohibitively expensive. Therefore, the un-ordered bi-allelic genotype data is collected experimentally. The genotype data gives the two alleles in each SNP locus in an individual, but does not give information about which allele is on which …
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Using Dirichlet Process Priors For Bayesian Mixture Clustering
We describe a non-parametric Bayesian model using genotype data to classify individuals among populations where the total number of populations is unknown. The model assumes that a population is characterized by a set of allele frequencies that follow multinomial distributions. The Dirichlet …
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Enhancing genomic data quality through deep learning methods
… is fundamentally constrained by incomplete genotype data, as genotyping arrays capture only a subset of common variants while rare and structural variants remain underrepresented. Without complete genomes, predictive models cannot reach their full potential. This thesis traces a research …
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Novel Statistical Methods for Multiple-variant Genetic Association Studies with Related Individuals
… high-throughput sequencing technologies produce data of multiple genetic variants. Due to linkage disequilibrium (LD) and familial relatedness, the genotype data from such studies often carries complex correlations. Moreover, missing values in genotype usually lead to loss of power in genetic …
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Use of machine learning techniques for SNP based prediction of ancestry
… accuracy was then tested on independent data sets. A high degree of genetic similarity implies that groups will be difficult to distinguish, especially when only a limited amount of genetic information is used. It is shown that the genetic differences between continentally defined groups …
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Risk prediction with genomic data
… 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, namely a Support Vector Machine (SVM) …
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Selection for Run1-Ren1 Dihybrid Grapevines Using Microsatellite Markers
… and greenhouse conditions independently of the genotype data. Combined analysis of phenotypic and genotypic segregations confirmed that Ren1 and Run1 acted as single dominant loci, and assorted independently without considerable distortion of segregation. Recombinant chromosomes were detected in …
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Quantifying recent variation and relatedness in human populations
… detection of IBD segments in population genotype data. Our novel seed-based algorithm, GERMLINE, can reduce the computational burden of finding pairwise segments from quadratic to nearly linear time in a general population. We demonstrate that this approach is several orders of magnitude …
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Rice and mouse quantitative phenotype prediction in genome-wide association studies with support vector regression
Quantitative phenotypes prediction from genotype data is significant for pathogenesis, crop yields, and immunity tests. The scientific community conducted many studies to find unobserved quantitative phenotype high predictive ability models. Early genome-wide association studies (GWAS) focused on …
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Using electronic methods of adherence monitoring and therapeutic drug monitoring (TDM) to eliminate discordance between antiretroviral adherence and virological failure
… clinic-based pill count (CPC), pharmacy refill data (PR-average or PR-gaps) and efavirenz concentration. The predictive value of each adherence methodology on virological and HIV-1 resistance outcomes was compared by calculating the area under the receiver operating characteristic curve, from …
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Genetic analysis of bipolar disorder and alcohol use disorder
… The South African group of adolescents were genotyped using the Illumina Infinium iSelect custom 6000 BeadChip, childhood trauma data was obtained and brain magnetic resonance images were collected for a subset of this group. Genotype data on HPA-axis genes were obtained from a previous study …
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Assessment of Penalized Regression for Genome-wide Association Studies
The data from genome-wide association studies (GWAS) in humans are still predominantly analyzed using single marker association methods. As an alternative to Single Marker Analysis (SMA), all or subsets of markers can be tested simultaneously. This approach requires a form of Penalized Regression …
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Molecular genetic characterization of ataxic movement disorders in mouse and human
… autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease. Through linkage and sequence analysis a novel mutation in the gene encoding inositol 1,4,5-triphosphate receptor type 1 was identified to …
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Molecular Marker Applications in Oat (Avena Sativa L.) Breeding and Germplasm Diagnostics
… heterogeneity and heterozygosity. Pre-existing genotype data for 700 oat cultivars and breeding lines were also used to construct graphical genotypes for pedigree validation and discovery of potential sources for favourable quantitative trait loci (QTL) alleles. This methodology used historical …
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Host and pathogen genetics associated with pneumococcal meningitis
… to disease progression. Finally, I analysed host genotype data from four independent studies using GWAS and heritability estimates to determine the contribution of human sequence variation to pneumococcal meningitis. Host sequence accounted for some variation in susceptibility to and severity of …
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Quantifying Dyrk1a During Perinatal Development in the Hippocampus, Cerebral Cortex and Cerebellum of the Ts65Dn
… animals of different sexes within the same genotype. Data from Dyrk1a knockdown mice indicated that reducing only Dyrk1a in euploid and in otherwise trisomic animals yields highly variable levels of DYRK1A, dependent on sex and tissue type, supporting the non-intuitive relationship between …
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