Sökning: "Resequencing"

Visar resultat 1 - 5 av 16 avhandlingar innehållade ordet Resequencing.

  1. 1. Genetics of complex disease

    Författare :Viktor Henmyr; Molekylär cellbiologi; []
    Nyckelord :complex disease; allergic rhinitis; Chronic rhinosinusitis; genetics; associations; GWAS; resequencing;

    Sammanfattning : 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. LÄS MER

  3. 2. Extracting Genomic Variations using Selector Technology

    Författare :Magnus Isaksson; Mats Nilsson; Radoje Drmanac; Uppsala universitet; []
    Nyckelord :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; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Genetics; Genetik; Molekylär medicin; Molecular Medicine;

    Sammanfattning : 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. LÄS MER

  4. 3. DNA Sequence Variants in Human Autoimmune Diseases

    Författare :Chuan Wang; Ann-Christine Syvänen; Anna Lobell; Jeffrey C. Barrett; Uppsala universitet; []
    Nyckelord :Association study; Gene resequencing; ChIP-seq; Type I interferon system; Systemic lupus erythematosus; Rheumatoid arthritis; Asthma; Medicinsk genetik; Medical Genetics; Molekylär genetik; Molecular Genetics;

    Sammanfattning : 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). LÄS MER

  5. 4. The roles of demography and natural selection in shaping genome-wide variation of Norway spruce

    Författare :Xi Wang; Pär K. Ingvarsson; Carolina Bernhardsson; Xiao-Ru Wang; Nathaniel Street; Tanja Pyhäjärvi; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Norway spruce; whole-genome resequencing; variant calling; genetic linkage map; nucleotide diversity; natural selection;

    Sammanfattning : Understanding the relative contribution of genetic drift, natural selection, and mutation to genetic variation, and quantifying adaptive evolution and the effects of natural selection in species are enduring goals of evolutionary genetics. Norway spruce (Picea abies) is one of the most important conifer species that dominates from both an ecological and economical point of view in many boreal ecosystems. LÄS MER

  7. 5. Arrayed identification of DNA signatures

    Författare :Max Käller; Lundeberg Joakim; Mats Nilsson; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; apyrase; allele-specific extension; competitive hybridization; DNA sequencing; genotyping; human papillomavirus HPV ; MC1R; microarray; mutation; p53; protease; Bioengineering; Bioteknik;

    Sammanfattning : 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. LÄS MER