Sökning: "sequencing technologies"

Visar resultat 6 - 10 av 144 avhandlingar innehållade orden sequencing technologies.

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

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

    Sammanfattning : 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. LÄS MER

  3. 7. Methods to Prepare DNA for Efficient Massive Sequencing

    Författare :Sverker Lundin; Joakim Lundeberg; Harold Swerdlow; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA; Massive sequencing; Next Generation Sequencing; Library Preparation; Barcoding; Multiplexing;

    Sammanfattning : Massive sequencing has transformed the field of genome biology due to the continuous introduction and evolution of new methods. In recent years, the technologies available to read through genomes have undergone an unprecedented rate of development in terms of cost-reduction. LÄS MER

  4. 8. Strategies for de novo DNA sequencing

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

    Sammanfattning : 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. LÄS MER

  5. 9. Phasing single DNA molecules with barcode linked sequencing

    Författare :David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

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

    Författare :Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER