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 13 of 13 for “"HapMap"”.
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Algorithms For Haplotype Inference And Block Partitioning
… variation in the human genome. The International HapMap Project was started in 2002 with the aim of identifying genetic variation in the human genome and studying the distribution of genetic variation across populations of individuals. The information collected by the HapMap project will enable …
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Use of machine learning techniques for SNP based prediction of ancestry
… nucleotide polymorphisms from the International HapMap Project were used to train classifiers for prediction of ancestral continent of origin. Predictive accuracy was then tested on independent data sets. A high degree of genetic similarity implies that groups will be difficult to distinguish, …
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Proxy genotypes and phenotypes for human genetics
… are selected from an incomplete resource such as HapMap. We demonstrate an efficient haplotypebased tagging approach and other methods that dramatically increase tagging efficiency. Examining all observed haplotypes for association increases power to detect rare causal alleles, while reducing …
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Bayesian Hidden Markov Models for finding DNA Copy Number Changes from SNP Genotyping Arrays
… Each model is assessed using a subset of the HapMap data. More general parameterizations of the transition intensity matrix of the continuous-time Markov process produced more accurate inference with respect to the length of CNV regions. The observed SNP array measurements are assumed to be …
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XPC Haplotypes Alter DNA Repair Capacity and Levels of Genetic Damage
… a minor allele frequency (MAF) ≥0.05, from the HapMap CEPH population were analyzed using PHASE, generating a series of likely phylogenetically clustered haplotypes. Cigarette smokers and matched non-smokers from a White, non-Hispanic population residing in the Houston-Galveston area were …
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Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… many earlier sequencing projects like the HapMap and 1000 Genomes panels focussed on a limited set of populations. Therefore, more research has been required to better characterise genetic diversity in understudied regions, such as Island Southeast Asia and Siberia. This thesis contributes …
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Genome-wide Genotype Imputation-Aspects of Quality, Performance and Practical Implementation
… panels from publicly available projects like HapMap and 1000 genome projects on the imputation quality. More specifically, we analysed the relationship between genetic distance of the reference and the resulting imputation quality. For this purpose, we considered different summary statistics …
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Variable selection for high-dimensional complex data
… conditions. Numerical studies and the ‘HapMap’ gene data application also confirm that the proposed method outperforms the traditional Lasso, adaptive Lasso, SCAD, and Peter–Clark-simple methods for highly correlated predictors. In the second project, we propose a Multiple Block-wise …
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Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati
… of haplotype blocks, utilising data from the HapMap project, across the two strongest peaks of linkage on chromosome 2 and 7. More than 3000 SNPs have been selected in each locus in all known genes, as well as SNPs in non-genic highly conserved sequences. All markers have been genotyped to …
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Studies of aldosterone renin ratio and genetic variation at the CYP11B1/CYP11B2 locus in human essential hypertension
… in the promoter region of CYP11B1. Using the HapMap data for Caucasians together with information from previous genotyping of this locus in 26 normotensive subjects from the MONItoring of trends and determinants in CArdiovascular disease Study (MONICA), a further eighteen SNPs were chosen for …
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Development of A Bayesian Joint Logistic Model to Better Study The Association Between Haplotypes and Disease
<p>In 2011, there will be an estimated 1,596,670 new cancer cases and 571,950 cancer-related deaths in the US. With the ever-increasing applications of cancer genetics in epidemiology, there is great potential to identify genetic risk factors that would help identify individuals with increased …
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Estudio multiple de polimorfismos genéticos en pacientes con linfoma de células B maduraú
… genotípicas fueron similares a las dadas por HapMap-CEU para individuos europeos: - EPHX1: TT 54.8%, TC 36.7%, CC 8.5%. - NQO1: CC 59.5%, CT 35.0%, TT 5.4%. - PON1: AA 42.7%, AG 47.3%, GG 10.0%. No se observamos diferencias significativas para los polimorfismos NQO1 y EPHX respectivamente. Al …
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Diversity in APOBEC3 and CCR5 host genes and HIV-1 in a South African population
… reported in the 1000 Genome Phase III and HapMap. A Chi-square goodness-of-fit was used to verify if whether observed genotype frequencies were in agreement with the Hardy-Weinberg Equilibrium. Haplotypes and Linkage disequilibrium were inferred to determine SNP association. vii The HIV-1 …