Search for dissertations about: "Copy number variation"
Showing result 6 - 10 of 58 swedish dissertations containing the words Copy number variation.
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6. Meiotic Recombination in Human and Dog : Targets, Consequences and Implications for Genome Evolution
Abstract : Understanding the mechanism of recombination has important implications for genome evolution and genomic variability. The work presented in this thesis studies the properties of recombination by investigating the effects it has on genome evolution in humans and dogs. READ MORE
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7. Computational exploration of human genome variation
Abstract : In studies of human genome variation, researchers attempt to identify the DNA sequence differences between our genomes that contribute substantially to variation that can be observed on a physical level (phenotype). Genetic variation can also be used to study population dynamics in human history, and how evolutionary forces have shaped the human genome. READ MORE
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8. Structural genomic variation in human disease
Abstract : Structural variants (SVs) are physical changes in the structure of chromosomes and include both unbalanced copy number variants (CNVs) and balanced events (translocations, inversions and insertions). Many SVs constitute benign background variation and are found frequently in healthy individuals. READ MORE
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9. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors
Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE
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10. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors
Abstract : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. READ MORE