Sökning: "exome sequencing"
Visar resultat 11 - 15 av 73 avhandlingar innehållade orden exome sequencing.
11. Statistical assessment of somatic mutations and genomic variability using DNA sequence data
Sammanfattning : The development of new DNA sequencing techniques have made it possible to generate high-resolution genomic data at an unprecedented pace. However, the high dimensionality in combination with the substantial levels of technical errors and biological variability make the analysis challenging. LÄS MER
12. New Insights in Genetic and Epigenetic Mechanisms Involved in Parathyroid Tumorigenesis
Sammanfattning : Primary hyperparathyroidism (pHPT) is a pathology associated with one or multiple hyperfunctioning parathyroid glands. The disease prevalence occurs in roughly 1-2% of the population primarily post-menopausal women. The molecular pathology of the disease is poorly understood. LÄS MER
13. Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia
Sammanfattning : The t(12;21) translocation generates the ETV6/RUNX1 fusion gene, present in 25% of childhood acute lymphoblastic leukemia. This fusion gene is important for leukemia development but is not sufficient for leukemia to arise. LÄS MER
14. Analysis of inherited and somatic variants to decipher canine complex traits
Sammanfattning : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). LÄS MER
15. Exploring next-generation sequencing in chronic lymphocytic leukemia
Sammanfattning : Next-generation sequencing (NGS) techniques have led to major breakthroughs in the characterization of the chronic lymphocytic leukemia (CLL) genome with discovery of recurrent mutations of potential prognostic and/or predictive relevance. However, before NGS can be introduced into clinical practice, the precision of the techniques needs to be studied in better detail. LÄS MER