Search for dissertations about: "Resequencing"

Showing result 1 - 5 of 15 swedish dissertations containing the word Resequencing.

  1. 1. Genetics of complex disease

    University dissertation from Lund University, Faculty of Science, Department of Biology

    Author : Viktor Henmyr; [2017-09]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; complex disease; allergic rhinitis; Chronic rhinosinusitis; genetics; associations; GWAS; resequencing;

    Abstract : To find true genetic associations in complex diseases, such as allergic rhinitis and chronic rhinosinusitis, is a difficult task. Both are polygenetic diseases where it is believed that genetic variation in several genes make up their phenotypes. READ MORE

  2. 2. Extracting Genomic Variations using Selector Technology

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Magnus Isaksson; Uppsala universitet.; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Selector; Selector probe; Genetic variation; Resequencing; Targeted sequencing; copy-number variations; MLGA; Bioinformatics; Next generation sequencing; NGS; Amplified single molecule; ASM; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; Genetics; Genetik; Molekylär medicin; Molecular Medicine;

    Abstract : This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic variation. The Selector technology provides multiplex amplification of targeted DNA sequences with a high specificity, and an enrichment factor in the same order of magnitude as PCR. READ MORE

  3. 3. DNA Sequence Variants in Human Autoimmune Diseases

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Chuan Wang; Uppsala universitet.; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Association study; Gene resequencing; ChIP-seq; Type I interferon system; Systemic lupus erythematosus; Rheumatoid arthritis; Asthma; Medicinsk genetik; Medical Genetics; Molekylär genetik; Molecular Genetics;

    Abstract : Human autoimmune diseases are hallmarked by inappropriate loss-of-tolerance and self-attacking response of the immune system. Studies included in this thesis are focusing on the implication and functional impact of genetic factors in three autoimmune diseases rheumatoid arthritis (RA), asthma, and systemic lupus erythematosus (SLE). READ MORE

  4. 4. Arrayed identification of DNA signatures

    University dissertation from Stockholm : KTH

    Author : Max Käller; KTH.; [2005]
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; apyrase; allele-specific extension; competitive hybridization; DNA sequencing; genotyping; human papillomavirus HPV ; MC1R; microarray; mutation; p53; protease; TECHNOLOGY Bioengineering; TEKNIKVETENSKAP Bioteknik;

    Abstract : In this thesis techniques are presented that aim to determine individual DNA signatures by controlled synthesis of nucleic acid multimers. Allele-specific extension reactions with an improved specificity were applied for several genomic purposes. Since DNA polymerases extend some mismatched 3’-end primers, an improved specificity is a concern. READ MORE

  5. 5. Bioinformatic screening for candidate mutations underlying phenotypic traits in domestic animals

    University dissertation from ; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences

    Author : Shumaila Sayyab; Sveriges lantbruksuniversitet.; [2014]

    Abstract : Domestic animals represent excellent model organisms for gene mapping and identification of mutations underlying phenotypic traits. Humans have selected spontaneous mutations in farm and companion animals since they were domesticated and this has resulted in large phenotypic variation among different breeds. READ MORE