Sökning: "Copy number changes"

Visar resultat 1 - 5 av 72 avhandlingar innehållade orden Copy number changes.

  1. 1. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells

    Författare :Pär Lundin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER

  3. 2. Computational exploration of cancer genomes

    Författare :Joakim Karlsson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Cancer genomics; Transcriptomics; Driver genes; Copy number changes; Immunogenomics; Cancer of unknown primary; Uveal melanoma;

    Sammanfattning : Cancer evolves due to changes in DNA that give a cell an advantage at the expense of the remaining organism. These alterations range from individual base substitutions to broad losses or duplications of chromosomal material. LÄS MER

  4. 3. 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

  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. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

    Författare :Marta Persson; Göteborgs universitet; []
    Nyckelord :cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

    Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER