Sökning: "Next generation sequencing"

Visar resultat 1 - 5 av 176 avhandlingar innehållade orden Next generation sequencing.

  1. 1. Next generation molecular diagnostics using ultrasensitive sequencing

    Författare :Stefan Filges; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Liquid biopsy; cell-free DNA; circulating tumor DNA; molecular diagnostics; next-generation sequencing; unique molecular identifiers; melanoma;

    Sammanfattning : Massively parallel sequencing enables the exploration of the genetic heterogeneity within microbial, viral and tumor cell populations. Detecting circulating tumor DNA in blood and other body fluids has the potential to revolutionize molecular diagnostics. LÄS MER

  2. 2. 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 :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  3. 3. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

    Författare :Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH 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

  4. 4. 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

  5. 5. 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