Sökning: "copy number analysis"

Visar resultat 41 - 45 av 157 avhandlingar innehållade orden copy number analysis.

  1. 41. Genetic analysis and software development for studies on complex human traits

    Författare :Lisette Graae; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Rapidly advancing genotyping and genome sequencing technologies have recently given us the opportunity to watch evolution at work. It turns out that the genome, like so many other workplaces, is rather messy. The sequences of no two humans are exactly alike, not even those of “identical” twins. LÄS MER

  3. 42. Molecular Analysis of Breast Cancer Transcriptomes, Genomes, and Circulating Tumor DNA

    Författare :Eleonor Olsson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer stem cells; RNA splicing; breast cancer; mutations; circulating tumor DNA; early detection of recurrent breast cancer; sequencing;

    Sammanfattning : Breast cancer is a very heterogeneous disease in terms of clinical characteristics, genetic aberrations and prognosis. In Paper I, we focused on the CD44 molecule that often is aberrantly expressed in breast cancer and is widely used as a marker for cancer stem cells. LÄS MER

  4. 43. A cohort study of sex differences and prognostic biomarkers in colorectal cancer

    Författare :Sakarias Wangefjord; Tumörmikromiljö; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; prognosis; treatment prediction; biomarkers; sex differences; cyclin D1; microsatellite instability; beta-catenin; KRAS mutation; BRAF mutation; EGFR expression; EGFR gene copy number alterations;

    Sammanfattning : Colorectal cancer (CRC) is one of the most common forms of cancer worldwide, with an annual incidence of more than 1 million cases. Despite advancements in the management of CRC, mortality remains high. LÄS MER

  5. 44. Genomic and functional analysis of microRNAs and PIWI-interacting RNAs in human cancers

    Författare :Mahmut Deniz Özata; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Small non-coding RNAs, including microRNAs (miRNAs) and piwi-interacting RNAs (piRNAs), play an important role in gene expression regulation and are involved in many biological and pathological processes. Study of small RNA expression and function in cancer cells could contribute to greater understanding of how small RNAs are involved in cancer development. LÄS MER

  7. 45. Bioinformatic analysis of whole genome sequencing data : detection of selective sweeps and structural changes

    Författare :Khurram Maqbool; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Evolution has shaped the life forms for billion of years. Domestication is an accelerated process that can be used as a model for evolutionary changes. The aim of this thesis project has been to carry out extensive bioinformatic analyses of whole genome sequencing data to reveal SNPs, InDels and selective sweeps in the chicken, pig and dog genome. LÄS MER