Search for dissertations about: "single nucleotide polymorphism array"

Showing result 1 - 5 of 23 swedish dissertations containing the words single nucleotide polymorphism array.

2. 1. Methods for Analyzing Genomes

   Author : Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
   Keywords : 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. 2. Genetic Sequence Analysis by Microarray Technology

   Author : Emilie Hultin; Joakim Lundeberg; Afshin Ahmadian; Marie Allen; KTH; []
   Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Genotyping; single nucleotide polymorphism SNP ; protease-mediated allele-specific extension PrASE ; microarray; tag-array; competitive hybridization; human papillomavirus HPV ; single cell; loss of alleles; differentiation; epidermis.; Bioengineering; Bioteknik;

   Abstract : Developments within the field of genetic analysis have during the last decade become enormous. Advances in DNA sequencing technology have increased throughput from a thousand bases to over a billion bases in a day and decreased the cost thousandfold per base. READ MORE

5. 3. Genetic Determinants of Dyslipidemia

   Author : Tibor V Varga; Genetisk och molekylär epidemiologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetic epidemiology; Genetic polymorphism; dyslipidaemia; Cholesterol; Triglyceride; Genetic risk; genetic risk score; Single nucleotide polymorphism; Prediction; Gene-environment interactions; Randomized controlled trial; prospective cohort studies; Observational study; GLACIER Study; Diabetes Prevention Program;

   Abstract : Dyslipidemia is a chronic deviation from normal blood lipid levels that can lead to atherosclerosis and other cardiovascular diseases; dyslipidemia and its sequelae are caused by the complex interplay of genetic and environmental factors. Although circulating concentrations of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (LDL-C) have a strong genetic underpinning, not much is known about the genetic factors that affect long-term deteriorations in lipid concentrations. READ MORE

6. 4. Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia

   Author : Henrik Lilljebjörn; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP array; array CGH; ETV6 RUNX1-positive ALL; childhood ALL; exome sequencing;

   Abstract : The t(12;21) translocation generates the ETV6/RUNX1 fusion gene, present in 25% of childhood acute lymphoblastic leukemia. This fusion gene is important for leukemia development but is not sufficient for leukemia to arise. READ MORE

7. 5. 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