Sökning: "targeted deep sequencing"

Visar resultat 1 - 5 av 13 avhandlingar innehållade orden targeted deep sequencing.

  1. 1. Methods for Analyzing Genomes

    Författare :Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Nyckelord :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. 2. Next Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia

    Författare :Erik Delsing Malmberg; Göteborgs universitet; []
    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

  4. 3. Genomic characterization of pediatric acute lymphoblastic leukemia by deep sequencing

    Författare :Carl Mårten Lindqvist; Ann-Christine Syvänen; Gabor Marth; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children, with close to 200 cases per year in the Nordic countries. Despite recent advances in modern chemotherapies, 20% of the ALL patients experience a relapse. LÄS MER

  5. 4. Intrinsic subtypes and prognostic implications in epithelial ovarian cancer

    Författare :Jenny-Maria Jönsson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ovarian cancer; gene expression profiling; Lynch syndrome; targeted deep sequencing; chromatin remodeling; molecular subtypes; endocrine receptors; prognostic factors; tumor heterogeneity;

    Sammanfattning : Ovarian cancer is the seventh most common cancer in women globally, with approximately 240,000 new cases annually. Although a rare disease, it is the most lethal gynecologic malignancy. Unspecific symptoms result in late diagnosis and a generally poor prognosis. LÄS MER

  7. 5. Exploring next-generation sequencing in chronic lymphocytic leukemia

    Författare :Viktor Ljungström; Tobias Sjöblom; Richard Rosenquist; Larry Mansouri; Mats Nilsson; Catherine J. Wu; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CLL; next-generation sequencing; clonal evolution; stereotypy; RPS15; NFKBIE; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Next-generation sequencing (NGS) techniques have led to major breakthroughs in the characterization of the chronic lymphocytic leukemia (CLL) genome with discovery of recurrent mutations of potential prognostic and/or predictive relevance. However, before NGS can be introduced into clinical practice, the precision of the techniques needs to be studied in better detail. LÄS MER