Sökning: "Copy number variation"

Visar resultat 1 - 5 av 61 avhandlingar innehållade orden Copy number variation.

  1. 1. Post-zygotic Genetic Variation in Health and Disease

    Författare :Hamid Reza Razzaghian; Jan P. Dumanski; David Gisselsson Nord; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Post-zygotic genetic variation; monozygotic twins; copy number variation; single nucleotide polymorphism; variable number tandem repeat; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. LÄS MER

  3. 2. The human pancreatic polypeptide receptor Y4 : Genetic and functional variation

    Författare :Kateryna Shebanits; Dan Larhammar; Sadaf Farooqi; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NPY4R; Y4; obesity; CNV; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Humans are evolutionarily adapted to an environment where food is scarce, but today many live in a world of food abundance. Paired with low physical activity, this may lead to weight gain and obesity. Efficient anti-obesity treatments require understanding of the mechanisms that control hunger, satiety, energy metabolism and body weight. LÄS MER

  4. 3. 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

  5. 4. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

    Författare :Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

    Sammanfattning : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. LÄS MER

  7. 5. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

    Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER