Sökning: "rare DNA"

Visar resultat 16 - 20 av 153 avhandlingar innehållade orden rare DNA.

  1. 16. Tagging systems for sequencing large cohorts

    Författare :Mårten Neiman; Afshin Ahmadian; Peter Savolainen; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; next generation sequencing; genotyping; massive parallel sequencing; 454; Pyrosequencing; amplicon sequencing; enrichment; DNA barcodes; Genetics; Genetik;

    Sammanfattning : Advances in sequencing technologies constantly improves the throughput andaccuracy of sequencing instruments. Together with this development comes newdemands and opportunities to fully take advantage of the massive amounts of dataproduced within a sequence run. LÄS MER

  3. 17. The Neuroblastoma Genome and Epigenome - Patient Stratification and Identification of Candidate Genes

    Författare :Helena Carén; Göteborgs universitet; []
    Nyckelord :cancer; neuroblastoma; epigenetics; DNA methylation; microarray; tumor suppressor gene; tumor; embryonal; neural crest; bisulfite sequencing; 1p36; 11q; MYCN; CASZ1; PIK3CD; PRKCDBP; SCNN1A; TGFBI; DHRS3; KRT19; DUSP23; APITD1; H2AFX;

    Sammanfattning : Neuroblastoma (NB) is a tumor of the sympathetic nervous system, and the most common extracranial tumor of childhood. The prognosis for high-stage NBs is still poor, with survival rates of about 35%. Side-effects of treatment in these young children can also be severe. LÄS MER

  4. 18. Risk and prognostic factors for malignant glioma

    Författare :Sara Sjöström; Beatrice S Melin; Ulrika Andersson; Monika Hegi; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioma; Glioblastoma; Risk; Outcome; EGR; EGFR; VEGF; VEGFR; DNA repair; virus; Oncology; Onkologi; onkologi; Oncology;

    Sammanfattning : Background: Glioblastoma is the most common and aggressive type of glioma and associated with poor prognosis. Apart from ionizing radiation and some rare genetic disorders, few aetiological factors have been identified for primary brain tumours. LÄS MER

  5. 19. lnclusion body myositis - Genetic, clinical, and epidemiological aspects

    Författare :Ulrika Lindgren; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; inclusion body myositis; mitochondrial DNA; epidemiology; cytochrome c oxidase; inflammatory myopathy;

    Sammanfattning : The inflammatory myopathy inclusion body myositis (IBM) is characterized by progressive muscle weakness and dysphagia in individuals over 45 years of age. Muscle biopsy shows inflammatory infiltrates, vacuoles with protein accumulation and cytochrome c oxidase (COX)-deficient muscle fibers. LÄS MER

  7. 20. Molecular Characterization of Male Breast Cancer

    Författare :Ida Johansson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; male breast cancer; aCGH; gene expression; DNA-methylation; microarray; profiling; NAT1; THY1;

    Sammanfattning : Cancer is today a major healthcare problem worldwide. There are many forms of cancer, which is a genetic disease, believed to result from a multistep process with genetic and epigenetic changes accumulating over time. Breast cancer is one of the most common forms of cancer in women, while it is much more rare in men. LÄS MER