Sökning: "genomic variation"

Visar resultat 1 - 5 av 177 avhandlingar innehållade orden genomic variation.

  1. 1. Metabolic variation in autoimmune diseases

    Författare :Rasmus Kirkegaard Madsen; Johan Trygg; Thomas Moritz; Torbjörn Lundstedt; Matej Oresic; Umeå universitet; []
    Nyckelord :Rheumatoid Arthritis; Diabetes Mellitus type 1; Metabolic Profiling; Metabolomics; Chemometrics; Multivariate Data Analysis; Mass Spectrometry; biologisk kemi; biological chemistry;

    Sammanfattning : The human being and other animals contain immensely complex biochemical processes that govern their function on a cellular level. It is estimated that several thousand small molecules (metabolites) are produced by various biochemical pathways in humans. LÄS MER

  3. 2. Genomic variation in American trypanosomes

    Författare :Jan Henriksson; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  4. 3. Structural genomic variation in human disease

    Författare :Maria Pettersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) are physical changes in the structure of chromosomes and include both unbalanced copy number variants (CNVs) and balanced events (translocations, inversions and insertions). Many SVs constitute benign background variation and are found frequently in healthy individuals. LÄS MER

  5. 4. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

    Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

    Sammanfattning : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. LÄS MER

  7. 5. Population genomic analyses of regulatory variation and selection in Brassicaceae species

    Författare :Robert Horvath; Tanja Slotte; Peter Hambäck; Douglas G. Scofield; Matthew Webster; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Capsella grandiflora; Arabidopsis thaliana; Arabidopsis lyrata; natural selection; gene expression variation; DNA and gene body methylation; transposable elements; DNA accessibility; gene expression noise; epigenetic silencing; linked selection; ekologi och evolution; Ecology and Evolution;

    Sammanfattning : The impact of selection on regulatory variation and the contribution of regulatory changes to phenotypic variation has long been debated in evolutionary genetics. Because cis-regulatory elements such as promoters and enhancers can be difficult to identify, it has been more challenging to quantify the impact of selection on variation in cis-regulatory regions than in protein-coding regions. LÄS MER