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Showing result 16 - 20 of 1406 swedish dissertations matching the above criteria.

  2. 16. Strategies for de novo DNA sequencing

    Author : Anna Blomstergren; KTH; []
    Keywords : DNA sequencing; DNA purification; automation; solid-phase; streptavidin; biotin; modular probes; Helicobacter pylori; cag PAI;

    Abstract : The development of improved sequencing technologies hasenabled the field of genomics to evolve. Handling andsequencing of large numbers of samples require an increasedlevel of automation in order to obtain high throughput andconsistent quality. READ MORE

  4. 17. Enabling massive genomic and transcriptomic analysis

    Author : Henrik Stranneheim; Joakim Lundeberg; Elaine Mardis; KTH; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; DNA; RNA; sequencing; massively parallel sequencing; alignment; assembly; single nucleotide polymorphism; LHON;

    Abstract : In recent years there have been tremendous advances in our ability to rapidly and cost-effectively sequence DNA. This has revolutionized the fields of genetics and biology, leading to a deeper understanding of the molecular events in life processes. READ MORE

  5. 18. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

    Author : Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
    Keywords : 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

  6. 19. Phasing single DNA molecules with barcode linked sequencing

    Author : David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
    Keywords : 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

  7. 20. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

    Author : Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mitochondrial DNA; next generation sequencing; massively parallel sequencing; forensic genetics; nuclear mitochondrial DNA segment NUMT ; length heteroplasmy; haplogroup; quality control; population data; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Abstract : Mitochondrial DNA (mtDNA) analysis plays a specialized role in forensic applications, overcoming certain limitations of autosomal DNA markers. The high copy number and uniparental inheritance pattern of mtDNA are advantageous in cases involving shed hairs and aged skeletal elements, especially decades-old missing persons cases. READ MORE