Search for dissertations about: "massive parallel sequencing"

Showing result 11 - 15 of 16 swedish dissertations containing the words massive parallel sequencing.

  2. 11. Genome and Transcriptome Comparisons between Human and Chimpanzee

    Author : Anna Wetterbom; Ulf Gyllensten; Lucia Cavelier; Tomas Bergström; Evan Eichler; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; human; chimpanzee; genome; transcriptome; comparative studies; exon arrays; next-generation sequencing; premature termination codon; alternative splicing; primate evolution; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Bioinformatik; Bioinformatics;

    Abstract : The chimpanzee is humankind’s closest living relative and the two species diverged ~6 million years ago. Comparative studies of the human and chimpanzee genomes and transcriptomes are of great interest to understand the molecular mechanisms of speciation and the development of species-specific traits. READ MORE

  4. 12. Identification of disease genes in rare neurological conditions

    Author : Martin Engvall; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnosis before treatment is a principle often told to medical students. READ MORE

  5. 13. Bioinformatic methods in rare disease genomics

    Author : Måns Magnusson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The larger goal of medical genetics is to map genotype to phenotype and to understand how genomic variation affects human health. In the field of rare disease genomics, there is a mendelian assumption that states: one disease one variant. READ MORE

  6. 14. Hereditary predisposition and prognostic prediction in cancer

    Author : Karin Wallander; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Cancer is a genetic disease. The cancer cells evolve clonally through changes of their genome, gaining malignant characteristics. In hereditary cancer syndromes, a genetic aberration which puts the cells one step closer to being malignant is inherited and present throughout whole body. READ MORE

  7. 15. Molecular biomarkers in melanoma susceptibility and therapy response

    Author : Muyi Yang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Melanoma accounts for the majority of the mortality from all types of skin cancers. Five to ten percent of the cases are familial melanoma, yet more than 50% of the melanoma families cannot be explained by established susceptibility genes. READ MORE