Search for dissertations about: "sequencing"

Showing result 16 - 20 of 1083 swedish dissertations containing the word sequencing.

  2. 16. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

    Author : Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

    Abstract : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. READ MORE

  4. 17. Phasing single DNA molecules with barcode linked sequencing

    Author : David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single molecule sequencing; DNA barcoding; whole genome haplotyping; linked-read sequencing; phasing; de novo genome assembly.; Biotechnology; Bioteknologi;

    Abstract : Elucidation of our genetic constituents has in the past decade predominately taken the form of short-read DNA sequencing. Revolutionary technology developments have enabled vast amounts of biological information to be obtained, but from a medical standpoint it has yet to live up to the promise of associating individual genotypes to phenotypic states of wide-spread clinical relevance. READ MORE

  5. 18. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Author : Anna Rohlin; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Abstract : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. READ MORE

  6. 19. RNA Sequencing for Molecular Diagnostics in Breast Cancer

    Author : Christian Brueffer; Translational Oncogenomics; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Cancer; Breast Cancer; RNA sequencing; Gene Expression; Mutation; Biomarker; SCAN-B; Diagnostics; Precision Medicine;

    Abstract : Breast cancer is the most common type of cancer in women and, in Sweden, is the most deadly second only to lung cancer. While treatment and diagnostic options have improved in the past decades and short- to mid-term survival is good, long-term survival is much poorer. READ MORE

  7. 20. Next Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia

    Author : Erik Delsing Malmberg; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acute myeloid leukemia; minimal residual disease; massively parallel sequencing; next generation sequencing; NPM1; alloHCT;

    Abstract : Acute myeloid leukemia (AML) is the most common form of acute leukemia and generally associated with a poor prognosis. For both children and adults, the treatment is based on chemotherapy. Allogeneic hematopoietic stem cell transplant (alloHCT) is reserved for patients with intermediate or high risk of relapse, due to its associated risks. READ MORE