Sökning: "rare variants"
Visar resultat 1 - 5 av 145 avhandlingar innehållade orden rare variants.
1. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors
Sammanfattning : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. LÄS MER
2. Assessing the importance of rare genetic variants for drug response
Sammanfattning : Inter-individual variability in drug response is commonly observed in pharmacological treatment, resulting in 40-70% of patients suffering from low drug efficacy or adverse drug reactions. These negative therapeutic effects significantly contribute to patient morbidity and mortality and constitute an important reason of post-market drug withdrawal. LÄS MER
3. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants
Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER
4. The effect of common and rare variants on inflammatory traits and diseases
Sammanfattning : Genome wide association studies (GWAS) have identified thousands of loci associated to an immense number of traits and diseases. Most associations have been to common variants, but rare variant associations are progressively being reported. LÄS MER
5. Bioinformatic methods in rare disease genomics
Sammanfattning : The larger goal of medical genetics is to map genotype to phenotype and to understand how genomic variation affects human health. In the field of rare disease genomics, there is a mendelian assumption that states: one disease one variant. LÄS MER
