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 19 of 19 for “"Mutation detection"”.
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
… people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported …
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DNA mutation detection via fluorescence imaging in a spatial thermal gradient, capillary electrophoresis system
Thesis (S.M.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering, 2001.
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Germline Mutation Detection In Next Generation Sequencing Data and Tp53 Mutation Carrier Probability Estimation For Li-Fraumeni Syndrome
… transmission information with <em>de novo</em> mutation and sequencing data to improve the variant calling accuracy. We investigated the factors impacting the improvement of family-based variant calling in simulation data and validated it in real sequencing data. In both simulation and real …
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Somatic Mutation Detection in Leukemia-Derived Circulating DNA: Utility in Monitoring Clonal Dynamics and Disease Response in Pediatric Acute Lymphoblastic Leukemia
… other than the major diagnostic clone. Somatic mutation detection in circulating-tumor DNA (Ct-DNA) offers a new venue for non-invasive studying of genetic heterogeneity and tracking clonal dynamics throughout therapy. Here, we employ targeted Next-Generation Sequencing (NGS) using a …
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One hundred channel electrophoresis prototypes for application to an ultra-high throughput mutational spectrometer
Mutation detection within the human genome is becoming an increasingly important field today. It is possible that with a correlation between diseases and the mutations that cause them, new therapeutic treatments could be developed against many of today's common diseases In order to accomplish …
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Germline and somatic mutational processes across the Tree of Life
… which are widely used for ultra-rare somatic mutation detection. To test this hypothesis, I designed and developed himut, a bioinformatics software that leverages the read length and high base accuracy of CCS reads to detect and phase somatic mutations in bulk normal tissues, agnostic of …
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Optimization of BRAF V600 Assay as A 2-Step Real-time PCR Protocol
<p>The QClamp® BRAF Codon Specific Mutation Detection Kit is a real-time PCR assay for the detection of somatic mutations in codon 600 Valine at exon 15 in the BRAF gene which encodes the serine/threonine protein kinase, using purified DNA. The V600E mutation is the most common BRAF gene mutation …
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New insights in the molecular pathogenesis of neurofibromatosis type 1
… symptoms by exploiting improved somatic mutation detection strategies on a diverse spectrum of cellular entities.
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MOLECULAR GENETICS OF HAEMOPHILIA A IN SINGAPORE
… polymorphism-based genetic markers and direct mutation detection techniques to study 344 normals and 46 affected families. Our main objective is to determine suitable DNA polymorphisms which reveals maximum informativity in the three major ethnic groups, namely Chinese, Indian and Malay, in …
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Implementation and Cost Analysis of Performing Molecular Assays using FFPE Tissue Blocks in the Clinical Laboratory at VA Palo Alto Health Care System
… System, FFPE samples for BRAF, KRAS and EGFR mutation detection assays are usually sent out to reference laboratories. However, with the increasing demand and cost of these tests, it would be more cost effective to bring these assays to be performed in-house. The activities for this project …
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Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease
… is becoming increasingly apparent that heritable mutations play a major role in developmental disorders, yet we still know little about the role of environmental agents in the etiology of heritable mutations. This is because germ cell mutations are rare and difficult to detect. In this thesis, …
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Mutation analysis at the lipoprotein lipase gene locus in two South African kindreds
… this disease is well-characterised and over 40 mutations have been described at the LPL gene loci. In this report three mutations are described at the LPL locus in two unrelated probands, namely, JJ (Kindred I) and LB (Kindred II). JJ presented early in childhood with signs and symptoms …
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Characterising the evolutionary dynamics of hypermutated tumours using single-cell sequencing
… MMRD results in an elevated rate of point mutations and indels, called hypermutation, which leads to a high burden of neoantigens and increased tumour immunogenicity. As a result, hypermutated cancers show the highest response rates to immune checkpoint blockade (ICB), a type of …
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Leveraging Whole Genome Sequences to Compare Mutational Mechanism and Identify Medically Relevant Variation in African versus Non-African Descend Populations
… (WGS) analysis pipeline to ensure reliable mutation detection. Therefore, it is essential to ensure that all steps of WGS downstream analysis are accurate, mainly the variant calling (VC). Current VC tools may produce falsepositive/negative results; such result may produce misleading …
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Isothermal Nucleic Acid Assays for the Detection of HIV Drug Resistance and Sickle Cell Disease in Low-Resource Settings
… of global importance that results from a point mutation in the β-globin gene which causes red blood cells to sickle. This in turn leads to painful vaso-occlusion and a host of other clinical consequences. The goal of this thesis work was to develop low-cost nucleic acid tests that can improve …
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Prognostic markers associated with tyrosine kinase inhibitor treatment response and maintenance of treatment free remission in chronic myeloid leukaemia
… resistance mediated by BCR-ABL1 kinase domain mutations, demonstrating an increased number of low level mutants via the use of ultra sensitive mutation detection techniques may help prognosticate patients with a history of the T315I mutation. Early molecular response (EMR, BCR-ABL1 ≤10% at 3 …
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Novel clinical and etiopathogenetic findings in Pseudoxanthoma elasticum
… analysis yielded a significant increase in ABCC6 mutations compared to a healthy reference population. This signified another example of heterozygous carriers being prone to cardiovascular and/or cerebrovascular disease and introduced the ABCC6 gene in stroke research. In single and multi-center …
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Circulating tumour DNA: A non-invasive biomarker for melanoma
… of Health and Welfare, 2016). Whilst early detection and successful surgical removal of primary melanomas have improved survival rates (DeSantis et al., 2014), approximately 30% of these patients will have disease recurrence at some point in their lives (Soong et al., 1992; Soong et al., …
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Detection of the calreticulin type 1 and type 2 mutations in a group of myeloproliferative neoplasm patients using molecular methods
… (PMF) or myelofibrosis (MF). In 2013, somatic mutations at exon 9 of CALR, the gene that encodes for calreticulin, were discovered through whole-exome sequencing and targeted re-sequencing in patients with MPNs. Among these mutations, more than 80% of CALR mutated patients possessed one of only …