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 26 for “"SNV"”.
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Simultaneous SNV calling and Phylogenetic Inference for Single-cell Sequencing Data
Single-cell sequencing provides a powerful approach for elucidating intratumor heterogeneity by resolving cell-to-cell variability. However, it also poses additional challenges including elevated error rates, allelic dropout, and non-uniform coverage. Variant calling in this context is the task of …
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Developing the spin qubit of the tin-vacancy center in diamond for quantum networks
… develops the spin properties of the tin-vacancy (SnV) center in diamond, a system for which the excellence of the photonic properties have already been demonstrated. Specifically, this thesis presents the (1) first measurements of key properties of the SnV spin qubit such as its lifetime and …
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Mechanisms of retroviral replication
… leukemia virus (MLV) and spleen necrosis virus (SNV). SNV proteins can package RNA of both SNV and MLV with similar efficiency. In contrast, MLV proteins cannot package SNV RNA. NC domain was shown to be the determinant of nonreciprocal RNA recognition by these two viruses.;This study was …
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Deterministic spin and photon control with a symmetry protected colour centre
… the negatively charged tin vacancy centre (SnV) in diamond is presented as a viable, symmetry protected, platform for quantum networking applications. The stationary qubit in the network is formed by the SnV centre's intrinsic optically addressable spin-1/2 qubit. This thesis accesses the …
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Elucidating the Genetic Basis of Canine Progressive Retinal Atrophies in Several Breeds of Dog
… genomes identified a single nucleotide variant (SNV) in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.G182R). Screening 5,130 canids revealed only the three PRA-affected GS were homozygous for the SNV, yet heterozygotes were identified in the GS breed and in other breeds …
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MITO: ROBUST INFERENCE OF MITOCHONDRIAL PHYLOGENIES AND CLONES
… tissues. In this scenario, mtDNA variants (MT-SNVs) have gained special attention recently, due to their low-profiling costs and compatibility with other informative cell-state modalities. This thesis introduces MiTo, an novel toolkit for MT-SNV-based scLT. MiTo provides an integrated pipelines …
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Caratterizzazione molecolare delle delezioni parziali del gene DAZ: come e perchè
… approcci molecolari: Single Variant Nucleotide (SNV), Real Time PCR, Sequenziamento.
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Hyperfine Interaction of the Group IV Color Centers
The group IV-negative color centers (SiV⁻, GeV⁻, SnV⁻) are one of the leading candidates for spin-photon interfaces for use in quantum information technologies. They feature highly coherent optical transitions, as well as native electron and nuclear spins that can be used as quantum memories. While …
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Análisis de herramientas bioinformáticas para la detección de CNVs en muestras de pacientes mediante secuenciación de exoma completo (WES)
… variaciones tanto a nivel de un nucleótido (SNV), como de inserciones o delección de 3 -4 nucleótidos, así como variaciones estructurales tanto equilibradas (inversiones y translocaciones) como desequilibradas (delección y duplicaciones). La secuenciación de los exomas de todo el genoma (WES) …
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Improving Dbnsfp
… has focused on single nucleotide variants (SNVs). Since indels are as important as SNVs, especially indels in coding regions are often candidates of disease-causing variants, thus, it is necessary to expand the focus to include indel mutations.</p> <p>The goal of my project is to provide an …
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Förster Resonance Energy Transfer-Based Quantification of D-2-Hydroxyglutarate & Locked Nucleic Acid Loop-Mediated Isothermal Amplification Mediated Detection of IDH1-R132 Single Nucleotide Variants in Glioma
… <em>IDH1</em>-R132 single nucleotide variant (SNV) present. The biosensor’s robust function in biological fluids suggests its powerful utility in liquid biopsies and monitoring remission vs. recurrence, while the genotyping panel aids in the genetic detection of oncogenic missense mutations. In …
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Knowledge for development? : reflections from consultants and advisors in Bolivia
… Proyectos (CEP) and a Dutch development agency (SNV). Using, as a conceptual framework, the notions of knowledge/power and discourse developed by Michel Foucault and aspects of Jürgen Habermas’s theory of communicative action, the thesis finds that knowledge engagements are heavily framed by …
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Investigating the prevalence, knowledge and regulations regarding counterfeit medicines.
… normal variant second derivative spectra (SNV-D2). The identification of the counterfeit medicines was a success along with identifying partial trends to how the public perceives self-prescription and their opinions of counterfeit medicines. Strengths and limitations regarding the new …
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Evolution of the genome in myeloproliferative neoplasms and the methylome in blood
… Moreover, by robustly identifying all SNV mutations in major clones, we can ascribe estimates of timing over which the driver mutations may have occurred. Our timing estimates are in line with recent work by our group using single cell derived haematopoietic colonies (scHCs) and …
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Engineering Scalable Quantum Systems From First-Principles to Large-Scale Control
… centers. A novel color center system, the ¹¹⁷SnV⁻ hyperfine color center, will be presented and its advantages compared to traditional group-IV color centers will be explored. Secondly, a method to integrate color centers with application specific integrated circuit (ASICs) will be …
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Comprehensive Analysis of the Molecular Underpinnings of Pediatric Glioma
… underlying alteration type: rearrangement or SNV. Further sub-classification stratified pLGG into clinical risk groups, highlighting patients at risk for a worsened prognosis. Diffuse intrinsic pontine glioma (DIPG) is a subtype of pediatric glioma that arises in the pons of children. DIPG …
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Evaluations and Consequences of Tumour Evolution
… and reveal systematic biases introduced by SNV and CNA detection tool choice. I also quantify the extent that single-region subclonal reconstruction underestimates intra-tumour heterogeneity as compared to multi-region reconstruction. Taken together, these findings illustrate the algorithmic …
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The Evolutionary Origins of Autism Associated Genes and Their Role in Great Ape Socio-Communicative Behavior
… study to see if the single nucleotide variance (SNV) affects social communication in bonobos. Research on how these genes affect great apes would provide insight into the role SNPs play in determining individual variation in behavior.</p>
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Determination of the frequency of four pathogenic variants causing inborn errors of metabolism in the western cape black population, using a multiplexed arms pcr approach
… parents. Four single nucleotide variants (SNV) were identified in our black South African population, on two or more separate alleles, namely, c.484C>T(p.Arg162Ter) in the GALNT3 gene causing hyperphosphataemic familial tumoral calcinosis (HFTC); c.803G>A(p.Arg268His) in the OXCT1 gene …
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Identifying the Genetic Factors in Natural Genome Backgrounds That May Modulate Phenotypic Outcomes in C. elegans
… genomes, including Single Nucleotide Variants (SNVs) and complex Structural Variants (SVs) such as deletions, duplications, inversions, as well as complex genomic rearrangements that may act as potential genetic modifiers. This study is the first to explore the SV category in natural isolates of …
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