Sökning: "DNA copy number"

Visar resultat 1 - 5 av 110 avhandlingar innehållade orden DNA copy number.

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

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

    Sammanfattning : 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. LÄS MER

  3. 2. Copy Number Analysis of Cancer

    Författare :Markus Mayrhofer; Anders Isaksson; Simon Tavaré; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  4. 3. Mitochondrial DNA in Sensitive Forensic Analysis

    Författare :Martina Nilsson; Marie Allen; Ulf Gyllensten; Antti Sajantila; Uppsala universitet; []
    Nyckelord :Genetics; Forensic genetics; Mitochondrial DNA; HVI HVII; Nuclear DNA; Quantification; Real-time PCR; Immobilised SSO probe assay; Pyrosequencing; Discrimination power; Coding region; Mixtures; Genetik;

    Sammanfattning : Genetic profiling is commonly performed on the autosomes using multiple DNA markers. Although routine forensic DNA analysis is robust and based on reliable technologies, samples with degraded or limited amounts of DNA often fail. In these cases, the analysis of mitochondrial DNA (mtDNA) can be very valuable due to the high copy number per cell. LÄS MER

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

    Författare :Øystein Flagstad; Ettore Randi; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  7. 5. DNA methylation profiling of CNS tumors; implications for clinical diagnostics

    Författare :Sandra Ferreyra Vega; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Central nervous system tumors; DNA methylation; clinical diagnostics; diffuse gliomas; meningiomas; heterogeneity;

    Sammanfattning : Diffuse gliomas and meningiomas are the most common primary tumors of the central nervous system (CNS) in adults and these tumors cause significant morbidity and mortality worldwide. Deregulation of the epigenetic mechanisms, e.g. LÄS MER