Search for dissertations about: "Copy number"

Showing result 21 - 25 of 299 swedish dissertations containing the words Copy number.

2. 21. Computational Analysis of Tumour Heterogeneity

   Author : Stefanie Friedrich; Erik Sonnhammer; Martin Hemberg; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; tumour heterogeneity; human genome and gene expression analyses; pathway annotation; fusion transcript detection; copy number calling; and high-resolution data; Biochemistry towards Bioinformatics; biokemi med inriktning mot bioinformatik;

   Abstract : Every tumour is unique and characterised by its genetic, epigenetic, phenotypic, and morphological signature. The diversity observed between and within tumours, and over time, is termed tumour heterogeneity. An increased heterogeneity within a tumour correlates with cancer progression, higher resistance rates, and poorer outcome. READ MORE

4. 22. Genetic studies of children with mental retardation

   Author : Saideh Rajaei; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

   Abstract : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. READ MORE

5. 23. Role of mitochondria in early molecular diagnosis and prognosis of cancer

   Author : Yanni Li; Allmänmedicin och klinisk epidemiologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; mtDNA copy number; mitochondrial-related nuclear genes; mtDNA mutations; diagnosis; prognosis; biomarker;

   Abstract : Background:Earlier clinical detection of cancer may improve survival as well as offer opportunities for less invasive treatment options. This thesis explores whether the mitochondria and its related genes in the nuclear genome can be used as novel methods for the diagnosis and prognosis of cancers. READ MORE

6. 24. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

   Author : Naveen Ravi; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anaplastic thyroid cancer; copy number alterations; somatic mutations; mutational signatures; DNA methylation analysis; Gene expression analysis;

   Abstract : Anaplastic thyroid cancer (ATC) is a rare and highly aggressive thyroid malignancy, usually resistant to conventional therapeutic strategies. The prognosis of ATC is extremely poor with a median survival rate of 6 months. Current treatment therapy includes surgical resection in combination with external radiotherapy and chemotherapy. READ MORE

7. 25. Genomic Profiling, Mutations and Deranged Signaling in Esophageal Cancer and Hereditary Colorectal Cancer

   Author : Anna Isinger Ekstrand; Institutionen för immunteknologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Esophageal cancer; hereditary cancer; HNPCC; copy number analysis; CGH; gene expression; Wnt; PIK3CA; CHEK2; gastric cancer; colorectal cancer;

   Abstract : Esophageal cancer and colorectal cancer represents two major types of gastrointestinal tumors. Though refined surgery and introduction of novel chemotherapeutics have improved outcome, more than 2500 Swedes die from these diseases every year. Novel markers for early diagnosis, prognosis and treatment prediction are therefore needed. READ MORE