Search for dissertations about: "single-nucleotide polymorphism SNP"

Showing result 1 - 5 of 105 swedish dissertations containing the words single-nucleotide polymorphism SNP.

  1. 1. Microfluidic bead-based methods for DNA analysis

    University dissertation from Stockholm : KTH

    Author : Aman Russom; KTH.; [2005]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; single nucleotide polymorphism; DNA analysis; SNP; microfluidics; pyrosequencing; beads; lab on a chip; hybridization; DASH; microsystem; micro totat analysis system; allele-specific extension; DASH; microcontact printing; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik;

    Abstract : With the completion of the human genome sequencing project, attention is currently shifting toward understanding how genetic variation, such as single nucleotide polymorphism (SNP), leads to disease. To identify, understand, and control biological mechanisms of living organisms, the enormous amounts of accumulated sequence information must be coupled to faster, cheaper, and more powerful technologies for DNA, RNA, and protein analysis. READ MORE

  2. 2. Beta Cell Function: from Human Genetics to Animal Models

    University dissertation from Lund University

    Author : Martins Kalis; Lunds universitet.; Lund University.; [2009]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; animal model; Dicer1; genetics; genetic association; single nucleotide polymorphism; SNP; INS-1E; AAT; FOXP3; beta cell function; insulin secretion; FFAR1; insulin; T2D; glucose; T1D;

    Abstract : Beta cell function is an important factor in the development of both Type 1 (T1D) and Type 2 (T2D) diabetes mellitus. T1D is characterized by a primary defect in insulin secretion due to the immune-mediated beta cell destruction, however, the more common T2D beside insulin resistance also include impaired beta cell function as a consequence to abnormal glucose homeostasis. READ MORE

  3. 3. Applications of Four-Colour Fluorescent Primer Extension Technology for SNP Analysis and Discovery

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Annika Ahlford; Uppsala universitet.; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single nucleotide polymorphism; Genotyping; Massively parallel sequencing; Gene mapping; Lab-on-a-chip; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Molecular biology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Molekylärbiologi; Molekylär medicin; Molecular Medicine;

    Abstract : Studies on genetic variation can reveal effects on traits and disease, both in humans and in model organisms. Good technology for the analysis of DNA sequence variations is critical. Currently the development towards assays for large-scale and parallel DNA sequencing and genotyping is progressing rapidly. READ MORE

  4. 4. Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Snaevar Sigurdsson; Uppsala universitet.; [2006]
    Keywords : Molecular medicine; Minisequencing; SNP; Microarray; Polymorphism; Mitochondria; Systemic Lupus Erythematosus; Rheumatoid Arthritis; Association study; Type I interferon; Genotyping; Molekylärmedicin;

    Abstract : Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We developed a novel multiplexed method for SNP genotyping based on four-color fluorophore tag-microarray minisequencing. This method allows simultaneous genotyping of 80 samples and up to 200 SNPs in any allele combination. READ MORE

  5. 5. Computational approaches for in-depth analysis of cDNA sequence tags

    University dissertation from Bioteknologi

    Author : Per Unneberg; KTH.; [2004]
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Biotechnology; cDNA; EST; gene expression; SNP; SAGE; polymorphism; Bioteknik; TECHNOLOGY Bioengineering; TEKNIKVETENSKAP Bioteknik;

    Abstract : Major recent improvements in biotechnology have led to an accelerated production of DNA sequences. The completion of the human genome sequence, along with the genomes of more than two hundred other species, has marked the arrival of the genome era. The ultimate goal is to understand the structure and function of genomes and their genes. READ MORE