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 8 of 8 for “"Duplex sequencing"”.
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Origin and Role of Nuclear Somatic Mutations in Frontotemporal Dementia
… and reproducibility of bulk and single-cell sequencing technologies at the sub-clonal levels, respectively. Duplex Sequencing, the error-corrected next generation sequencing (NGS) technique that combines the strengths of bulk and single-cell sequencing, was applied to genomic DNA extracted …
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Sperm sequencing reveals extensive positive selection in the human germline
… been limited by the need for a low error rate sequencing technology. Using the duplex sequencing method known as NanoSeq, which achieves a sufficiently low error rate, we sequenced bulk sperm and whole blood from the same individuals. We show that mutation rates and mutation signatures in sperm …
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A comprehensive survey of somatic mutation landscapes in normal human cells
… accurate RE-NanoSeq method, which is based on duplex sequencing of single DNA molecules with < 5x10e-9 errors per base pair, I can detect somatic mutations in any tissue, regardless of their clonality. Mutation rates vary within and across tissue types, with the lowest in the seminiferous …
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Somatic Mutations in Ageing and Degenerative Disease
… clonal units. In recent years, large scale sequencing efforts have begun to characterise the process of mutagenesis in normal tissues. These observations have improved our understanding of how somatic cells evolve oncogenic phenotypes and hinted that somatic changes may contribute to the …
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Mutational processes in normal human tissues
… normal human small intestine through extensive sequencing and phylogenetic reconstruction of multiple biopsies from a group of 39 individuals within UK. Subsequently, I demonstrated how mutational signatures in normal tissues can be used for global surveillance of mutagenic exposures that may …
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Later Life Consequences of Developmental Mitochondrial DNA Damage in C. elegans
… dimers can be mutagenic [12]. We are using duplex sequencing of C. elegans mtDNA to determine mutation rates in nematodes exposed to our serial UVC protocol. Furthermore, by including mutant strains deficient in mitochondrial fission and mitophagy, we hope to determine if deficiencies in …
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The evolutionary dynamics of clonal haematopoiesis and its progression to acute myeloid leukaemia
… haematopoiesis driver mutation. Using blood sequencing data amassed from ~50,000 individuals, combined with insights from evolutionary theory, we developed a framework to quantify the mutation rates and fitness effects of clonal haematopoiesis variants down to single nucleotide resolution. …
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The impact of cytotoxic chemotherapy on somatic mutation in normal human cells
… *in vitro* using organoid models; and the sequencing of samples of a wide range of tissue types from chemotherapy-treated patients. This work was enabled by recent developments in highly error-corrected duplex sequencing approaches, facilitating accurate detection of mutations at single …