Sökning: "exome sequencing"

Visar resultat 1 - 5 av 47 avhandlingar innehållade orden exome sequencing.

  1. 1. Sequencing cancer

    Detta är en avhandling från Stockholm : Karolinska Institutet, Dept of Medical Biochemistry and Biophysics

    Författare :Una Kjällquist; Karolinska Institutet.; Karolinska Institutet.; [2014]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Cancer forms highly heterogeneous tissues at several molecular levels, genomic, proteomic, transcriptomic and other epigenetic traits. The level of complexity is further augmented by the dynamic nature of tumor progression with cancer cell populations evolving in a clonal manner. LÄS MER

  2. 2. Analysis of RNA and DNA sequencing data Improved bioinformatics applications

    Detta är en avhandling från Stockholm : KTH Royal Institute of Technology

    Författare :Benjamín Sigurgeirsson; KTH.; [2016]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; RNA sequencing; exome sequencing; bioinformatics; gene expression; differential expression; variant calling; Biotechnology; Bioteknologi;

    Sammanfattning : Massively parallel sequencing has rapidly revolutionized DNA and RNA research. Sample preparations are steadfastly advancing, sequencing costs have plummeted and throughput is ever growing. This progress has resulted in exponential growth in data generation with a corresponding demand for bioinformatic solutions. LÄS MER

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Diego Cortese; Uppsala universitet.; [2016]
    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

  4. 4. Technologies for Single Cell Genome Analysis

    Detta är en avhandling från Stockholm : KTH Royal Institute of Technology

    Författare :Erik Borgström; KTH.; [2016]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA; sequencing; single molecule; single cell; whole genome amplification; exome sequencing; emulsions; barcoding; phasin; Biotechnology; Bioteknologi;

    Sammanfattning : During the last decade high throughput DNA sequencing of single cells has evolved from an idea to one of the most high profile fields of research. Much of this development has been possible due to the dramatic reduction in costs for massively parallel sequencing. LÄS MER

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

    Detta är en avhandling från Stockholm : KTH Royal Institute of Technology

    Författare :Anna Rohlin; Göteborgs universitet.; Gothenburg University.; [2015]
    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