Sökning: "Disease genetics"
Visar resultat 1 - 5 av 514 avhandlingar innehållade orden Disease genetics.
1. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry
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
2. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia
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
3. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden
Sammanfattning : 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. LÄS MER
4. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes
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. Exploring the Genetics of SLE with Linkage and Association Analysis
Sammanfattning : 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. LÄS MER