Sökning: "Copy number"

Visar resultat 1 - 5 av 313 avhandlingar innehållade orden 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; 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 :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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. Molecular mechanism of plasmid copy number control in Yersinia

    Författare :Tifaine Héchard; Helen Wang; Javier Pizarro-Cerda; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Yersinia pseudotuberculosis; plasmid copy number; T3SS; infection; ddPCR; Mikrobiologi; Microbiology;

    Sammanfattning : The ability of pathogenic bacteria to cause disease depends on various virulence mechanisms. The three pathogenic species of Yersinia use a type III secretion system (T3SS) to translocate effector proteins into host cells and disrupt the immune system. This T3SS is encoded on a 70kb, low-copy, virulence plasmid. LÄS MER

  5. 4. Ovarian Carcinoma - Early Detection and Prognostication

    Författare :Laura Martin de la Fuente; Bröst- och ovarialcancer; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; High-grade serous ovarian carcinoma; early detection markers; pre-diagnostic cervical sample; copy number alterations CNA ; copy number signatures; Claudin-4; immune cell infiltration; PD-1 PD-L1 pathway;

    Sammanfattning : .... LÄS MER

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

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