Sökning: "DNA copy number"

Visar resultat 1 - 5 av 116 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; 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. 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

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