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 5 of 5 for “"SNP detection"”.
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Development of Novel Methods to Minimize The Impact of Sequencing Errors In The Next-Generation Sequencing Data Analysis
… <em>de novo</em> assembly, mapping and variants detection is far from maturity, and the high sequencing error-rate is one of the major problems. .</p> <p>To minimize the impact of sequencing errors, we developed a highly robust and efficient method, MTM, to correct the errors in NGS reads. We …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… for the four distinct disorders with specific detection needs and analytical ranges could be combined on the OpenArray system and in multiplexed qPCR reactions. SNP detection of homozygous SMN1 deletions in SMA, CNV detection in the 22q11.2 critical region, and quantification of the SCID …
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Population Genetics and Host Specificity of a Rare Parasitic Plant, Cuscuta harperi
… markers and conclude that methods of SNP detection, such as targeted sequence capture, are likely to be superior for identification of polymorphisms in the genome of <em>C. harperi</em>. We also show that host selection by <em>C. harperi</em> is a result of active choice by seedlings …
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Statistical Machine Learning for Multi-platform Biomedical Data Analysis
… (DCE-MRI) and single nucleotide polymorphism (SNP) microarrays. The research work focuses on: (1) tissue-specific compartmental analysis for dynamic contrast-enhanced MR imaging of complex tumors; (2) computational Analysis for detecting DNA SNP interactions in genome-wide association studies. …
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Role of nuclear factor kappa B (NFkB) in the vascular complications of diabetes.
… determine what single nucleotide polymorphisms (SNP) may occur within the NFĸB1 gene in T2DM and ii) a molecular biology approach to investigate the role of the SNP of interest in a human monocyte cell line using polymerase chain reaction (PCR) and restriction enzymes. Methods: Genetic …