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 5 of 5 for “"somatic variant"”.
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Understanding and Improving Identification of Somatic Variants
… important to understand the entire spectrum of somatic variants to gain more insight into mutations that occur in different cancers for development of better diagnostic, prognostic and therapeutic tools. This thesis outlines our work in understanding somatic variant calling, improving the …
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Improving quality of high-throughput sequencing reads
… analyzes the effect of sequencing errors on variant calling, which is one of the most important clinical applications for HTS data. For this, the environments for tracing the effect of sequencing errors on germline and somatic variant calling was developed. Using the environment, this …
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Bioinformatics pipeline development for analyses of data generated by target capture-based Next-Generation Sequencing, to characterise mutations and the utility of using off-target sequences to detect genomic imbalances in Multiple Myeloma patients.
… methods, especially regarding structural variant (SV)/copy number alteration (CNA) detection. This study aimed to exemplify target-capture Next-Generation Sequencing data utility in bioinformatics-mediated sequence variant/SV/CNA detection, using a 1,138-gene cancer gene panel …
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Establishing the feasibility of using ctDNA for molecular profiling in DLBCL
… this thesis was to develop and validate a custom somatic variant calling and annotation pipeline for use on DLBCL FFPE biopsy and plasma ctDNA samples. This was conducted in the context of a prospective observational clinical trial, DIRECT. After establishing the variant calling pipeline, the next …
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Defining the Epigenetic Evolutionary Dynamics that Precede Acute Myeloid Leukaemia
… research has predominantly centred on the somatic and inherited variants which drive cancer. However, altered methylation is also a hallmark of cancer development and is a promising tissue-specific biomarker for early detection. It remains unknown how early in tumour development methylation …