Search for dissertations about: "sequencing"

Showing result 21 - 25 of 1081 swedish dissertations containing the word sequencing.

  1. 21. 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 : NATURAL SCIENCES; NATURVETENSKAP; 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

  2. 22. Whole Genome Sequencing of Enterotoxigenic Escherichia coli

    Author : Astrid von Mentzer; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : ETEC; whole genome sequencing; evolution; colonization factor; reverse genetics;

    Abstract : Enterotoxigenic Escherichia coli (ETEC) infections are a common cause of diarrhea but little is known about the evolution and genomic composition of ETEC. The main aim of this thesis was to generate a large collection of whole genome sequenced ETEC isolates to study the evolution of such bacteria on a global level and to search for novel colonization factors (CFs) using both classical and cutting-edge genomic techniques. READ MORE

  3. 23. Software Tools and Algorithms for Shotgun Sequence Assembly

    Author : Martti T. Tammi; Bruce Roe; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Shotgun sequencing; multiple alignment; fragment assembly; repeats; sequencing error; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : During the last ten years, a genomics revolution has changed the ways biological research is carried out. The draft sequence of the human genome is available, as well as the sequence of 84 other completed genomes. READ MORE

  4. 24. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Author : Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Abstract : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. READ MORE

  5. 25. Towards spatial host-microbiome profiling

    Author : Britta Lötstedt; Joakim Lundeberg; Petri Auvinen; KTH; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; 16S sequencing; RNA sequencing; spatially resolved transcriptomics; antibody-based measurements; Biotechnology; Bioteknologi;

    Abstract : Sequencing technologies and applications have pushed the limits and enabled novel studies of biological mechanisms, evolutionary relationships and communication networks between cells. The technical developments leading to single cell RNA-sequencing have enabled detection of rare cell populations while spatial resolution added insights into larger biological environments, like tissues and organs. READ MORE