Sökning: "Massively parallel sequencing"

Visar resultat 6 - 10 av 36 avhandlingar innehållade orden Massively parallel sequencing.

  1. 6. Enabling massive genomic and transcriptomic analysis

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

    Sammanfattning : 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. LÄS MER

  3. 7. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

    Författare :Jakob Hofvander; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Sarcomas; Gene fusion; tumor evolution; clonal heterogeneity; RNA-seq; WES; SNP-array;

    Sammanfattning : .... LÄS MER

  4. 8. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Författare :Anna Rohlin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

  5. 9. 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

  7. 10. 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