Sökning: "Single nucleotide"

Visar resultat 1 - 5 av 437 avhandlingar innehållade orden Single nucleotide.

  1. 1. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

    Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

  3. 2. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data

    Författare :Johanna K Sandling; Ann-Christine Syvänen; Lovisa Lovmar; Joseph Terwilliger; Javier Martín Ibáñez; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic lupus erythematosus; Multiple Sclerosis; Association study; Type I interferon system; Single nucleotide polymorphism; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER

  4. 3. Genetic Sequence Analysis by Microarray Technology

    Författare :Emilie Hultin; Joakim Lundeberg; Afshin Ahmadian; Marie Allen; KTH; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  5. 4. Single-molecule Detection in situ

    Författare :Chatarina Larsson; Mats Nilsson; Ulf Landegren; Sanjay Tyagi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; Molekylär medicin; Molecular Medicine; molekylär medicin genetik och patologi ;

    Sammanfattning : The human body contains a variety of different cell types that share a common genome, but differ in how they use the information encoded therein. Variation in molecular content exists even at the level of individual cells, and to provide deeper insight into complex cellular processes methods that permit analysis of each cell on its own are needed. LÄS MER

  7. 5. Methods for Analyzing Genomes

    Författare :Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER