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Showing result 21 - 25 of 1406 swedish dissertations matching the above criteria.

  2. 21. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Author : Anna Rohlin; Göteborgs universitet; []
    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

  4. 22. Environmental sequencing to infer patterns of eukaryotic evolution : Combining long-read and short-read metabarcoding

    Author : Mahwash Jamy; Fabien Burki; Micah Dunthorn; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Protists; eukaryotes; environmental sequencing; ribosomal DNA; PacBio; long-read metabarcoding; phylogenetics; salt barrier; habitat evolution; eukaryotes evolution; evolutionary rate; Apicomplexa; pathogen; Biology with specialization in Systematics; Biologi med inriktning mot systematik;

    Abstract : Our view of eukaryotes is biased towards plants, animals, and fungi. But the vast majority of eukaryotic diversity is microbial in nature. These microbial eukaryotes are key players in all ecosystems on earth and are collectively known as protists. READ MORE

  5. 23. 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; 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

  6. 24. Next Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia

    Author : Erik Delsing Malmberg; Göteborgs universitet; []
    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

  7. 25. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Author : Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Abstract : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. READ MORE