Search for dissertations about: "Copy number"

Showing result 1 - 5 of 246 swedish dissertations containing the words Copy number.

  1. 1. Modelling Allelic and DNA Copy Number Variations using Continuous-index Hidden Markov Models

    Author : Susann Stjernqvist; Matematisk statistik; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Hidden Markov models; DNA copy number; allelic copy number; Markov chain Monte Carlo;

    Abstract : In human cells there are usually two copies of each chromosome, but in cancer cells abnormalities could exist. The differences consist of segments of chromosomes with an altered number of copies. There can be deletions as well as amplifications and the lengths of the segments can also vary. READ MORE

  2. 2. Copy Number Analysis of Cancer

    Author : Markus Mayrhofer; Anders Isaksson; Simon Tavaré; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; chromosomes; oncology; bioinformatics; Bioinformatik; Bioinformatics; Oncology; Onkologi; Clinical Genetics; Klinisk genetik;

    Abstract : By accurately describing cancer genomes, we may link genomic mutations to phenotypic effects and eventually treat cancer patients based on the molecular cause of their disease, rather than generalizing treatment based on cell morphology or tissue of origin.Alteration of DNA copy number is a driving mutational process in the formation and progression of cancer. READ MORE

  3. 3. Population History and Non-invasive Monitoring : Use of low copy number DNA in Conservation Genetics

    Author : Øystein Flagstad; Ettore Randi; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; Biology; genetic tagging; immigration; loss of genetic variability; non-invasive molecular techniques; population decline; Swayne’s hartebeest; wolf; wolverine; Biologi; Biology; Biologi; ekologisk botanik; Ecological Botany;

    Abstract : Conservation genetics research is increasingly becoming an integrated part of the management of small and endangered populations. In this thesis I developed tools for genetic analysis of low copy number sources of DNA, such as old teeth from museum specimens as well as field-collected faeces and urine. READ MORE

  4. 4. Regulation of mitochondrial transcription and mtDNA copy number in mammals

    Author : Anja Rantanen; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; mtDNA; transcription factor; evolution; transmission; inheritance; expression; mitochondria; transgenic; mapping; testis-specific;

    Abstract : Functional mitochondria are essential for wellbeing of the cell and the whole organism. Gene expression from the mitochondrial genome (mtDNA) is indispensable for oxidative phosphorylation, but also for the replication of mtDNA, as the replication primers are processed from mtDNA transcripts. READ MORE

  5. 5. Array based genetic profiling of chronic lymphocytic leukemia

    Author : Rebeqa Gunnarsson; Stamcellscentrum (SCC); []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; copy-number neutral loss of heterozygosity; copy-number aberrations; chronic lymphocytic leukemia; genomic microarrays; clonal evolution; stereotyped B-cell receptors;

    Abstract : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. READ MORE