Sökning: "genomic DNA sequencing"

Visar resultat 1 - 5 av 163 avhandlingar innehållade orden genomic DNA sequencing.

  1. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Författare :Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Sammanfattning : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. LÄS MER

  3. 2. 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

  4. 3. Molecular Genetic Studies of the Blood Group ABO Locus in Man

    Författare :Martin L Olsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chi sequence; recombination; population studies; blood group serology; erythrocyte; blood transfusion; sequencing; DNA; PCR; genomic; Blood group ABO; allele; Immunology; serology; transplantation; Immunologi; serologi; Clinical genetics; Klinisk genetik;

    Sammanfattning : The ABO blood group system is undoubtedly the most important genetic and phenotypic marker in clinical transfusion medicine. The A and B determinants are immunodominant, terminally located carbohydrate residues of glycoconjugates on erythrocytes and other cell surfaces. LÄS MER

  5. 4. Ribonucleotides in DNA - Application in genome-wide DNA polymerase tracking and physiological role in eukaryotes

    Författare :Katrin Kreisel; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ribonucleotides; DNA instability; DNA polymerase eta; nuclear DNA; mitochondrial DNA;

    Sammanfattning : The genetic code in the eukaryotic cell is stored in the form of DNA, which is more resistant to hydrolysis than RNA. Replication fidelity and DNA repair mechanisms are in place to ensure genomic integrity to preserve the information encoded. LÄS MER

  7. 5. Chlorite dismutase of ideonella dechloratans

    Författare :Helena Danielsson Thorell; KTH; []
    Nyckelord :Chlorite dismutase; Ideonella dechloratans; Purification; Genomic; Library; Gene; PCR DNA; Sequencing; Signal peptide;

    Sammanfattning : .... LÄS MER