Sökning: "Deep sequencing"

Visar resultat 1 - 5 av 50 avhandlingar innehållade orden Deep sequencing.

  1. 1. Tagging systems for sequencing large cohorts

    Författare :Mårten Neiman; Afshin Ahmadian; Peter Savolainen; KTH; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; next generation sequencing; genotyping; massive parallel sequencing; 454; Pyrosequencing; amplicon sequencing; enrichment; DNA barcodes; Genetics; Genetik;

    Sammanfattning : Advances in sequencing technologies constantly improves the throughput andaccuracy of sequencing instruments. Together with this development comes newdemands and opportunities to fully take advantage of the massive amounts of dataproduced within a sequence run. LÄS MER

  2. 2. Methods for Analyzing Genomes

    Författare :Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 3. Methods for deep examination of DNA

    Författare :Mårten Neiman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; massive parallel sequencing;

    Sammanfattning : The development of sequencing technology has had a rapid pace during the last years and today, the sequencing instruments harbors enormous capacity. This thesis is about the development of methods to make the most out of this capacity and to use it for various applications. LÄS MER

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

    Författare :Erik Delsing Malmberg; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acute myeloid leukemia; minimal residual disease; massively parallel sequencing; next generation sequencing; NPM1; alloHCT;

    Sammanfattning : 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. LÄS MER

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

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER