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 33 for “"Targeted sequencing"”.
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IDENTIFICATION OF SPLICING PATHWAY MUTATIONS VIA TARGETED SEQUENCING
… splicing pathway I have developed a series of targeted-sequencing based quantitative genetic screens in S. pombe, a yeast species which is genetically tractable yet retains features of complex splicing patterns that have been lost in the S. cerevisiae lineage. Through these screens I have …
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Targeted sequencing : single cells and single strand breaks
Sequencing the human genome has spurred systematic work on understanding how gene expression and genomic integrity contribute to disease. To date, 3,519 genes have been identified as the underlying cause of specific single gene disorders. However, complex diseases still pose a daunting challenge …
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Investigation of Genetic Alterations In Emt Suppressor, Dear1, Through Pan-Cancer Analysis and Ultra-Deep Targeted Sequencing In Ductal Carcinoma In Situ
… event in multiple epithelial cancers and that targeted deletion of <em>Dear1</em> in the mouse recapitulates the tumor spectrum of human tumor types undergoing <em>DEAR1</em> copy number losses, including mammary tumors. Therefore, these results indicate the relevance of the <em>Dear1</em> …
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Genetic variation in the IFITM locus and its phenotypic consequences
… variation in the IFITM region. I employ a targeted sequencing method using two different sequencing technologies: short-read sequencing (Illumina MiSeq) and single molecule, real-time sequencing (PacBio RS). Conventional pulldown protocols for targeted sequencing have not been designed for …
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Improving earlier non-invasive diagnosis of high-grade serous ovarian cancer
… low-cost high-throughput next generation sequencing assays in plasma samples collected from women with newly diagnosed OC. The secondary aim was to apply these methods to other non-invasive samples including cervical liquid based cytology samples that might contribute to earlier diagnosis …
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The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition
The development of whole exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition variants and potentially provide clinical insight into disease management. …
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Expanding the genome editing toolbox for biomedical applications
… a thorough quality control (QC) process for the targeted site following this method has yet to be developed, and as a result, unwanted mutations may go undetected. To this end, we targeted two mouse genes, Ace2 and Foxg1, via CRISPR-READI, and generated three GM mouse lines. Next, we employed …
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Monitoring lactococcal phages during milk fermentation
… strains. Routine methods such as 16S rRNA sequencing confirmed the Lactococcus lactis species. This was followed by use of the histidine operon PCR to confirm subspecies lactis and cremoris. Further genotypic differentiation was supported through sequencing of the purR gene, a core gene …
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Mutational Landscape of Noncoding Ultraconserved Elements in Human Cancers: Functional Relevance and Clinical Utility
… we perform a systematic analysis of whole-genome sequencing (WGS) data from the International Cancer Genome Consortium (ICGC) and in-house targeted sequencing of 13,736 UCEs and demonstrate that ncUCE somatic alterations are pervasive. Using a genome-wide multiplexed CRISPR knockout screen in …
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The pre-clinical evolution of haematological malignancies
… complications of bone marrow failure. Using deep targeted sequencing of stored blood DNA samples from individuals who went on to develop AML and controls, we identified features of CH that predict leukaemic progression. The number, type and burden of genetic changes, as well as certain clinical …
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Small RNA and A-to-I editing in Autism Spectrum Disorders
… complex behavior in animals. We used ultradeep sequencing to quantify A-to-I recoding of candidate synaptic genes in postmortem cerebella from individuals with ASD and neurotypical controls. We found unexpectedly wide distributions of human A-to-I editing levels, whose extremes were consistently …
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Unleashing the potential of liquid biopsy: allele-informed evaluation of plasma samples for cancer patients management
Liquid biopsy and next-generation sequencing of cell-free DNA (cfDNA) in cancer patients’ plasma offer a minimally-invasive solution to detect tumor cell genomic information to aid real-time clinical decision-making. Reliability and sensitivity in the detection of genomic alterations is crucial for …
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Identifying Novel Causes of X-Linked Heterotaxy
… but ZIC3 variants, primarily identified through targeted sequencing of its coding region, are the only recognized cause of X-liked heterotaxy. This dissertation focuses on a heterotaxy pedigree with four affected males, demonstrating an X-linked inheritance. No coding variant in ZIC3 was …
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Accumulation of Somatic Mutations in Normal Human Colonic Epithelium
… of mutant epithelium in aged humans. Further, targeted sequencing revealed dramatic expansion of KRAS-mutant clones in histologically normal colon. Patches may arise from crypt fission and fusion events. Using a clonal mark based on mild periodic acid-Schiff staining, the neutral crypt fission …
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Somatic evolution in human blood and colon
… are ubiquitous and others that are sporadic. Targeted sequencing of an additional 1,500 crypts allowed us to quantify the frequency of driver mutations in normal human colon. Together, these two studies inform on the somatic evolution of normal tissues, describing new biology in human tissue …
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Genetic Mechanisms of Transcriptional Regulation in Childhood Acute Lymphoblastic Leukemia
… Advances in genomic profiling and sequencing studies have identified germline and somatic variations that are associated with childhood ALL, improving our understanding of the genetic basis of childhood acute lymphoblastic leukemia (ALL). Recent genome-wide association studies …
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The Influence of Diet on the Mammalian Gut Microbiome
… different portions of the mammalian tree, Targeted sequencing of the bacterial 16S rRNA gene and shotgun gene sequencing of total fecal DNA revealed that animals with similar diets possessed similar microbiomes, both in terms of bacterial species detected and the functions that their …
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Identifying New Genes for Inherited Breast Cancer by Exome Sequencing
… identify additional breast cancer genes by exome sequencing. In order to select families for gene discovery, we first screened families for mutations in all known breast cancer genes using targeted capture and massively parallel sequencing (BROCA). Families that remained unsolved after screening …
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Targeted next generation sequencing to improve solid tumour diagnosis using tissue-derived and cell-free DNA
Next generation sequencing (NGS) allows for high throughput sequencing of DNA and is commonly utilised in oncology research. Whilst whole genome and exome sequencing have been used to identify novel mutations in cancer patients, a more rapid and cost-efficient technology is required for clinical …
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Mining Genomic Variants And Causal Pathways Linking Hdl And Triglycerides To Coronary Disease
… how HDL and TG may relate to CHD. First, through sequencing and exome-wide genotyping of subjects with extremely high HDL-C, we identified the first homozygote for a loss-of-function (LOF) variant in SCARB1, which encodes scavenger receptor class BI (SR-BI), a hepatic receptor for HDL-C. Despite …
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