Search for dissertations about: "disease genetics"

Showing result 1 - 5 of 513 swedish dissertations containing the words disease genetics.

  2. 1. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

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

    Abstract : 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. READ MORE

  4. 2. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia

    Author : Mohamed Arifin Bin Kaderi; Richard Rosenquist Rosenquist; Mahmoud Mansouri; Mattias Jansson; Denis Alexander; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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;

    Abstract : 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. READ MORE

  5. 3. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Author : Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Abstract : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. READ MORE

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

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

    Abstract : 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. READ MORE

  7. 5. Exploring the Genetics of SLE with Linkage and Association Analysis

    Author : Cecilia Johansson; Marta Alarcón-Riquelme; Peter Gregersen; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Systemic lupus erythematosus; complex disease; linkage analysis; association analysis; Genetik; Genetics; Genetik;

    Abstract : The aim with this thesis has been to identify genes involved in the pathogenesis of Systemic Lupus Erythematosus (SLE). SLE is a systemic autoimmune disorder, most likely caused by both several genetic and environmental factors. READ MORE