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 9 of 9 for “"Somatic copy number alterations"”.
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Prevalence and prevention of large-scale somatic copy number alterations
… of megabases, as occurs with sub-chromosome copy number variants (CNVs) or whole-chromosome aneuploidy, is almost always associated with embryonic lethality or severe disease. However, while large-scale genomic imbalance has adverse consequences at the organismal level, both CNVs and …
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Evolution and vulnerabilities of somatic copy number alterations in cancer
… of endometrial cancers, whereas BAF complex alterations occur late. We identified novel recurrent alterations in primary tumors, including mutations in the estrogen receptor cofactor NRIPJ in 12% of patients. Phylogenetic analyses in cases with multiple metastases indicated these metastases …
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Non-Invasive cancer detection: computational applications in liquid biopsy and radiomics
… in breast cancer through the analysis of somatic copy number alterations (SCNAs). The panel's unique combination of elements, including genome-wide and focal single nucleotide polymorphisms (SNPs), exonic regions of key cancer-related genes, and a bespoke computational strategy, enhances …
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Accurate Identification of Significant Aberrations in Cancer Genome: Implementation and Applications
Somatic Copy Number Alterations (CNAs) are common events in human cancers. Identifying CNAs and Significant Copy number Aberrations (SCAs) in cancer genomes is a critical task in searching for cancer-associated genes. Advanced genome profiling technologies, such as SNP array technology, facilitate …
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Computational Analysis of Genome-Wide DNA Copy Number Changes
DNA copy number change is an important form of structural variation in human genome. Somatic copy number alterations (CNAs) can cause over expression of oncogenes and loss of tumor suppressor genes in tumorigenesis. Recent development of SNP array technology has facilitated studies on copy number …
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The Intra-Tumour Heterogeneity Landscape of Human Cancers
Tumours accumulate many somatic mutations in their lifetime. Some of these mutations, drivers, convey a selective advantage and can induce clonal expansions. Incomplete clonal expansions give rise to intra-tumour heterogeneity. Somatic mutations can be measured through massively parallel …
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Probabilistic modelling of somatic alterations in bulk tissue and single cells using repeat DNA
… cancer types, in which large-scale structural alterations of the genome accumulate at an increased rate. An important class of structural alterations are somatic copy number alterations (SCNAs). SCNAs have been shown to be major drivers of oncogenesis and are associated with prognosis and …
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Computational Insights Into The Generation of Chromosomal Copy Number Changes
… and complex forms of diseases. These chromosomal alterations — such as duplications, deletions or copy-neutral loss-of-heterozygosity — are thus important forms of genetic variation for phenotyping populations of individuals as well as populations of cells. Indeed, copy number variants (CNVs) …
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Algorithms for analyzing complex structural variations in cancer genomes
Analysis of somatic alterations in cancer genomes has been accelerated through the rapid growth of the quantity, quality and depth of data generated by next-generation sequencing (NGS). Previously most of cancer genome studies were focusing on single nucleotide variations (SNVs), small insertions …