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Showing result 1 - 5 of 118 swedish dissertations matching the above criteria.

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

   Author : Aman Russom; Ulf Gyllensten; KTH; []
   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; Clinical genetics; 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

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

   Author : Martins Kalis; Diabetes - immunovirologi; []
   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

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

   Author : Annika Ahlford; Ann-Christine Syvänen; Mats Nilsson; David Schwartz; Uppsala universitet; []
   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; Medical genetics; Medicinsk genetik; Molecular biology; 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

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

   Author : Snaevar Sigurdsson; Ann-Christine Syvänen; Timothy Behrens; Uppsala universitet; []
   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

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

   Author : Per Unneberg; Joakim Lundberg; Leif Andersson; KTH; []
   Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Biotechnology; cDNA; EST; gene expression; SNP; SAGE; polymorphism; Bioteknik; Bioengineering; 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