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 9 of 9 for “"genotype imputation"”.
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Genome-wide Genotype Imputation-Aspects of Quality, Performance and Practical Implementation
… a relation between a particular phenotype and genotype is one of the central themes in medical genetics. Single-nucleotide polymorphisms are easily assessable markers allowing genome wide association (GWA) studies and meta-analysis. Hundreds of such analyses were performed in the last decades. …
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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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LEVERAGING EVOLUTION TO UNDERSTAND GENETIC LOAD IN CASSAVA (MANIHOT ESCULENTA)
… genetic load. Obtaining accurate and consistent genotype data across thousands of cassava clones is necessary to more effectively implement genomic selection strategies. Genomic selection uses genome-wide markers to predict plant performance to accelerate genetic gain, by reducing time and money …
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Mapping of monogenic and quantitative trait loci using a whole genome scan approach and single nucleotide polymorphism platforms
… of hypotrichosis in the Hereford breed. Genotype imputation from the BovineSNP50 to the high density BovineHD platform was conducted to provide a denser marker panel to carry out whole genome association mapping and allow for more refinement of genomic regions associated with traits. The …
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Novel Statistical Methods for Multiple-variant Genetic Association Studies with Related Individuals
… (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 association tests. Also, repeated measurements of phenotype and dynamic covariates from longitudinal …
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GENOMIC AND MICROBIOME ANALYSIS TO IMPROVE FILLET YIELD AND QUALITY TRAITS IN RAINBOW TROUT
… whole-genome sequencing (1x WGS) with genotype imputation and microbiome data for genomic prediction. Our findings show that combining 1x WGS with pedigree data provides predictive power that outperforms the pedigree-only-based models. Moreover, incorporating microbiome data improved …
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Medaka fish as a model for complex trait genetics
… 2025; Pierotti et al., 2024). They include genotype imputation from shallow sequencing data, mixed-model Genome-Wide Association Studies (GWAS), and post-GWAS causal variant prioritisation. In Chapter 3, I investigate heart rate in medaka embryos— a phenotype relevant to human physiology— …
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Genomics of sickle cell disease and fetal hemoglobin in African populations
… Tanzanian, and the USA through a multiple imputation panel and genome-wide association approach, with fine-mapping and functional analysis. Briefly, the performance of different reference haplotype panels on genotype imputation accuracy for African SCA populations from Cameroon and Tanzania …
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Identification of genetic loci underlying equine metabolic syndrome and laminitis risk
… PhD thesis has consisted of using phenotype and genotype data on 286 Morgan horses and 264 Welsh ponies, two high risk breeds for EMS. Phenotype data collected on all horses included: signalment, medical history, laminitis status, environmental management (feed, supplements, turnout and exercise …