Sökning: "Genetics"

Visar resultat 1 - 5 av 1163 avhandlingar innehållade ordet Genetics.

  1. 1. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia

    Författare :Mohamed Arifin Bin Kaderi; Richard Rosenquist Rosenquist; Mahmoud Mansouri; Mattias Jansson; Denis Alexander; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; prognostic markers; single nucleotide polymorphisms; RNA-based markers; Medical genetics; Medicinsk genetik; Genetics; Genetik; Clinical genetics; Klinisk genetik; Medical laboratory science; Medicinsk laboratorievetenskap; Oncology; Onkologi; Haematology; Hematologi; Clinical Genetics; Klinisk genetik; Molekylär medicin; Molecular Medicine; Oncology; Onkologi; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER

  2. 2. 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 :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH 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

  3. 3. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

    Författare :Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. LÄS MER

  4. 4. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  5. 5. Complex Trait Genetics : Beyond Additivity

    Författare :Simon Forsberg; Örjan Carlborg; Julien Ayroles; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; genetic interactions; epistasis; additivity; GWAS; vGWAS; Genetic mapping; yeast; Arabidopsis Thaliana; dog; Genetik; Genetics;

    Sammanfattning : The link between the genotype and the phenotype of an organism is immensely complex. Despite this it can, to a great extent, be captured using models that assume that gene variants combine their effects in an additive manner. This thesis explores aspects of genetics that cannot be fully captured using such additive models. LÄS MER