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.
Results
Showing 1 to 13 of 13 for “"Single nucleotide variant"”.
-
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
… panel identifies the specific <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 …
-
Germline Genetic Modulator of Cancer Metastasis
… I identified a common missense germline variant in PCSK9 (rs562556, V474I) that associates with reduced survival in breast cancer cohorts from multiple countries. This highly prevalent variant is homozygous in ~70% of people of European ancestry. Genetic modeling of this gain-of-function …
-
Non-coding RNA genes lost in Prader-Willi Syndrome stabilize target RNAs
… 45 minutes of its transcription. Additionally, a single nucleotide variant within Nhlh2 at the predicted Snord116 interaction site may disrupt Snord116's protective effect. This is the first observation of a molecular mechanism for Snord116, identifying its role in RNA stability, and leads us …
-
Elucidating the Genetic Basis of Canine Progressive Retinal Atrophies in Several Breeds of Dog
… study sought to elucidate novel PRA-associated variants of distinct forms of PRA in three breeds of dog: the Lhasa Apso (LA), Giant Schnauzer (GS) and Shetland Sheepdog (SS). A genome-wide association study identified a 1.3 Mb disease-associated region on canine chromosome 33 in LA dogs. Whole …
-
Somatic Mutation in Cancer and Healthy Human Tissue
… modulation in cancer. Secondly, G&T-seq, a single cell multiomics technique, is extended to single nucleotide variant analysis. When applied to cortical neurons, it suggested a substantial level of technical artefacts in previously published mutational spectra. Thus, this multiomic approach …
-
Dynamic DNA Nanotechnology for Probing Single Nucleotide Variants and DNA Modifications
… that attempt to conquer the challenge of single-nucleotide-variants (SNVs) detection. Even though a powerful toolbox including the toehold-exchange reaction, the dynamic ‘sink’ design, and the polymerase chain reaction (PCR) has been built, it still faces practical problems. For example, …
-
Elucidating the constitutional genetic basis of multiple primary tumours
… and panel based sequencing to elicit causative variants in known cancer predisposition genes (CPGs) or at novel loci. Analysis of WGS data for variants affecting known CPGs showed that a pathogenic or likely pathogenic (P/LP) variant was detected in around 15% of previously undiagnosed cases. …
-
Germline mutation in rare disease
… of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human disease. With the advent of exome and …
-
Transcription Factor-Centric Approaches to Identify Regulatory Driver Mutations in Cancer
… for predicting the quantitative effects of single nucleotide variants on transcription factor (TF) binding. Unlike most of the previous work on driver identification, our method does not require the driver mutations to be highly recurrent; instead, we assess the mutations’ significance by …
-
Genetic and functional studies in inherited platelet disorders
… loci associated with platelet traits. Common variants, with a minor allele frequency (MAF) ≥1% are associated with mild variation in platelet parameters, whereas rare variants (MAF <1%) are associated with extreme phenotypes and inherited platelet disorders (IPDs). The polygenic score (PGS) …
-
The evolutionary dynamics of clonal haematopoiesis and its progression to acute myeloid leukaemia
… and fitness effects of clonal haematopoiesis variants down to single nucleotide resolution. This enabled us to build a league table of the fittest and potentially most pathogenic variants in blood. We also quantified the distribution of fitness across key clonal haematopoiesis genes and found …
-
The Evolutionary Origins of Autism Associated Genes and Their Role in Great Ape Socio-Communicative Behavior
… studies have found associations between gene single nucleotide polymorphisms (SNPs) and patients diagnosed with ASD. For this study, the focus is on OXTR, AVPR1A, and FOXP2. OXTR is reported to regulate empathy and stress reactivity while AVPR1A is reported to regulate stress management and …
-
Proteogenomics for Personalised Molecular Profiling
… integration and unbiased modification and variant detection hinder efforts for large-scale proteogenomics studies. The main objectives of this work are to address these issues by developing and applying new software tools and data analysis methods. Firstly, I address mapping of peptide …