Search for dissertations about: "sequencing"

Showing result 6 - 10 of 1081 swedish dissertations containing the word sequencing.

  1. 6. Analysis of RNA and DNA sequencing data : Improved bioinformatics applications

    Author : Benjamín Sigurgeirsson; Joakim Lundeberg; Simon Anders; KTH; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; RNA sequencing; exome sequencing; bioinformatics; gene expression; differential expression; variant calling; Biotechnology; Bioteknologi;

    Abstract : 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. READ MORE

  2. 7. Detection and Sequencing of Amplified Single Molecules

    Author : Rongqin Ke; Mats Nilsson; Ulf Landegren; Radoje Drmanac; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; padlock probes; proximity ligation assay; rolling circle amplification; circle-to-circle amplification; single molecule detection; amplified single molecules; sequencing; in situ; single cell; Molecular Biotechnology; Molekylär bioteknik;

    Abstract : Improved analytical methods provide new opportunities for both biological research and medical applications. This thesis describes several novel molecular techniques for nucleic acid and protein analysis based on detection or sequencing of amplified single molecules (ASMs). READ MORE

  3. 8. Methods for Analyzing Genomes

    Author : Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; 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;

    Abstract : 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. READ MORE

  4. 9. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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.;

    Abstract : 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. READ MORE

  5. 10. Technologies for Single Cell Genome Analysis

    Author : Erik Borgström; Afshin Ahmadian; Sten Linnarsson; KTH; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; DNA; sequencing; single molecule; single cell; whole genome amplification; exome sequencing; emulsions; barcoding; phasin; Biotechnology; Bioteknologi;

    Abstract : 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. READ MORE