Search for dissertations about: "Targeted sequencing"

Showing result 1 - 5 of 81 swedish dissertations containing the words Targeted sequencing.

  1. 1. 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

  2. 2. Sequencing cancer

    Author : Una Kjällquist; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Cancer forms highly heterogeneous tissues at several molecular levels, genomic, proteomic, transcriptomic and other epigenetic traits. The level of complexity is further augmented by the dynamic nature of tumor progression with cancer cell populations evolving in a clonal manner. READ MORE

  3. 3. Methods for Analyzing Genomes

    Author : Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; array; sequence capture; genotyping; trinucleotide threading; sequencing; massively parallel sequencing; single molecule sequencing; Visual DNA; p53; single nucleotide polymorphism; biomarker; Genetics; Genetik;

    Abstract : The human genome reference sequence has given us a two‐dimensional blueprint of our inherited code of life, but we need to employ modern‐day technology to expand our knowledge into a third dimension. Inter‐individual and intra‐individual variation has been shown to be larger than anticipated, and the mode of genetic regulation more complex. READ MORE

  4. 4. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

  5. 5. Targeted disruption and subcellular distribution of phospholipase C 3

    Author : Shu Wang; Uppsala universitet; []
    Keywords : Medical sciences; Phosphoinositide specific phospholipase C; sequencing; fluorescence in situ hybridization; gene targeting; early embryonic development; electron microscopy; secretory granules; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Internal Medicine; invärtesmedicin;

    Abstract : Phosphatidylinositol specific phospholipase C (PLC) isoforms are key enzymes in the signal transduction pathway that control many cellular processes including cell proliferation, hormone secretion and egg fertilization. The PLCβ3 gene, assigned to the multiple endocrine neoplasia type 1 (MEN1) locus, has been implicated in endocrine tumorigenesis due to the low expression in several endocrine tumors. READ MORE