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 260 for “"single nucleotide polymorphisms (SNPs)"”.
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Application of single nucleotide polymorphisms (SNPs) to forensic casework in Malaysia
… advances in the identification and analysis of single nucleotide polymorphisms (SNPs) have demonstrated the advantage of these markers over short tandem repeats (STRs) in that they only require small amplicons. However, before applying to casework, it is important to develop allele frequency …
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The Association of Single Nucleotide Polymorphisms (SNPs) in the Nitric Oxide Synthase 1 Adaptor Protein Gene (NOS1AP) and the QT Interval Duration Across Race/Ethnicity in Adults Without Clinical Cardiovascular Disease
… The MESA study provides an opportunity to study single nucleotide polymorphisms (SNPs) in NOS1AP for association with QT interval in an ethnically diverse cohort. Methods: Twenty-eight tagging SNPs, starting in the first intron and spanning the entire gene, were genotyped in 2847 men and women, …
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Ranking single nucleotide polymorphisms with support vector regression in continuous phenotypes
… (SVM) have been used to improve the ranking of single nucleotide polymorphisms (SNPs) over traditional chi-square tests in disease case studies [2]. In this investigation, ranking SNPs with support vector regression (SVR) was compared to the Wald test in predicting continuous phenotypes. …
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Genetic risk factors for anterior cruciate ligament ruptures
… design to identify specific sequence variants (single nucleotide polymorphisms, SNPs) within these candidate genes which may predispose individuals to ACL ruptures. Candidate genes (COL1A1, COL5A1 and COL12A1) were selected based on the biological function of their encoded proteins (type I, type …
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Private Random Variate Sampling for Secure and Federated Polygenic Risk Scores
… are used to quantify the additive effect of single nucleotide polymorphisms (SNPs) on an individual’s genetic risk for developing a particular trait or condition. Collaborations between data centers are important for improving the statistical power and validity of PRS through larger, more …
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High-throughput Amplicon Sequencing Optimization for Downstream Prediction Purposes
… and biogeographical ancestry from single-nucleotide polymorphisms (SNPs). This project involves the optimization of a high-throughput amplicon sequencing assay targeting ~2,000 SNPs associated with pigmentation, facial morphology, and ancestry. Over 400 samples were processed …
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Single Nucleotide Polymorphisms in the Folypoly-gamma-glutamate synthetase Gene
… for the synthesis of purine and thymidine nucleotides, which are necessary for cell growth and proliferation. As a result, the enzymes that participate in the metabolism of folic acid have been good targets for cancer chemotherapy. Folylpoly-γ-glutamate synthetase (FPGS) is an enzyme in the …
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LA VARIANTE ASSOCIATA ALLA LONGEVITA' (LAV) DEL GENE BPIFB4 MODULA eNOS E LA FUNZIONALITA' VASCOLARE
… LLIs are thought to be enriched/depleted in single-nucleotide polymorphisms (SNPs) that influence aging, a phenomenon associated with progressive decline in nitric oxide (NO) production and impairment of endothelial function. Preliminary data have shown that a variation of the …
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The genetics of lithium-induced adverse drug reactions in bipolar disorder patients : a pilot study
… years. The present pilot study explored whether single nucleotide polymorphisms (SNPs) within GSK3B, AKT1, ARRB2, GRIA2 and PPPARGC1A could be associated with the incidence and severity of lithium-induced side effects.
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Array-based genomic diversity measures portray Mus musculus phylogenetic and genealogical relationships, and detect genetic variation among C57Bl/6J mice and between tissues of the same mouse
… assessment. Using a validated list of >500,000 single nucleotide polymorphisms (SNPs), we applied the first comprehensive analysis of SNP differences to detect genetic distance across 362 Mus musculus samples. Genetic distance measured between distantly and closely related mice correlates with …
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Oxytocin and Genetic Links with Eating Behaviours and Relevant Endophenotypes
… study by Davis et al. (2017) identified several single nucleotide polymorphisms (SNPs) on the OXT receptor gene (OXTR), associated with overeating and relevant behaviours. The present study expanded on this work by analyzing SNPs of the LNPEP, CD38, and OXTG genes. Additionally, sex differences …
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Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome
… significant tracts of homozygosity (TOH) using single nucleotide polymorphisms (SNPs) from a large-scale genome data set can contribute to the discovery of genetic factors related to human diseases. The proposed system helps users to visually examine TOH clusters computed from the underlying …
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Integrated array-on-a-chip for genotyping
The ubiquity of single nucleotide polymorphisms (SNPs) in the human genome requires platforms that enable high-throughput, cost-effective and fast detection, which most conventional platforms fall short of. Here, a spatially addressable array-on-a-chip (or bead array chip) is developed that allows …
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Ruolo del gene AIRE nel melanoma
Polymorphisms of AIRE, a transcription factor that up-regulates intrathymic expression of tissue-specific antigens including melanoma-associated antigens (MAAs), may variably affect the selection of MAAs-specific thymocytes, generating T-cell repertoires protecting or predisposing individuals to …
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Quantitative Trait Loci (Qtl) Analysis Of Sulfur Sensitivity In Vitis Aestivalis-Derived 'Norton'
… and linkage mapping were conducted using single nucleotide polymorphisms (SNPs) and simple sequence repeat (SSR) markers, respectively. A major quantitative trait loci (QTL) for sulfur sensitivity was detected on linkage group 14 (LOD=15). Identification of this QTL will allow future grape …
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Imputation of Microsatellite Markers With Tag SNPs
… forms of genetic variation in the human genome, Single Nucleotide Polymorphisms (SNPs) and Variable Number Tandem Repeat Polymorphisms (VNTRs), SNPs are much more easily and inexpensively assayed in a high-throughput manner. For this reason, we seek to explore methods that can allow us to use the …
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Predicting the Functional Effects of Human Short Variations Using Hidden Markov Models
… the human genome have been identified, including single nucleotide polymorphisms (SNPs), short insertions and deletions (indels), and large structural variations such as large duplications and deletions. Of great research interest is the functional effects of these variants. Although many programs …
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MOL-PCR For SNP Based Detection and Characterization of STEC non-O157 Strains
… serogroups O26, O45, O103, O111, O121, and O145. Single nucleotide polymorphisms (SNPs) have been identified in the O-antigen gene cluster for each of the non-O157 STEC serogroups that can differentiate between a STEC and non-STEC strain. In this study, the multiplex oligonucleotide ligation-PCR …
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Bioinformatics framework for genotyping microarray data analysis
… the genotypes of DNA sequences containing single nucleotide polymorphisms (SNPs), and can help biologists probe the functions of different genes and/or construct complex gene interaction networks. The enormous amount of data from these experiments makes it infeasible to perform manual …
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A GPU program to compute SNP-SNP interactions in genome-wide association studies
… presented. Pairwise interaction effects of the Single Nucleotide Polymorphisms (SNPs) have proven to uncover the underlying complex disease traits. Computing the disease risk based on the interaction effects of SNPs on a case - control study is a difficult problem. As another part of the thesis, …
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