Search for dissertations about: "Sanger sequencing"

Showing result 1 - 5 of 45 swedish dissertations containing the words Sanger sequencing.

2. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

   Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

   Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

4. 2. Genetic Aspects of Endocrine Tumorigenesis : A Hunt for the Endocrine Neoplasia Gene

   Author : Alberto Delgado Verdugo; Peyman Björklund; gunnar westin; Per Hellman; Filip Farnebo; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Exome sequencing; SDHAF2; epigenetics; methylation; methylation array; Sanger sequencing; pheochromocytoma; SI-NETs; carcinoid; oncology; endocrine surgery; parathyroid; Genetics; Genetik; Kirurgi; Surgery;

   Abstract : Endocrine tumors arise from endocrine glands. Most endocrine tumors are benign but malignant variants exist. Several endocrine neoplasms display loss of parts of chromosome 11 or 18, produce hormones and responds poorly to conventional chemotherapeutics. The multiple endocrine neoplasia syndromes are mainly confined to endocrine tumors. READ MORE

5. 3. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

   Author : Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mitochondrial DNA; next generation sequencing; massively parallel sequencing; forensic genetics; nuclear mitochondrial DNA segment NUMT ; length heteroplasmy; haplogroup; quality control; population data; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

   Abstract : Mitochondrial DNA (mtDNA) analysis plays a specialized role in forensic applications, overcoming certain limitations of autosomal DNA markers. The high copy number and uniparental inheritance pattern of mtDNA are advantageous in cases involving shed hairs and aged skeletal elements, especially decades-old missing persons cases. READ MORE

6. 4. Microfluidic and Molecular Tools for Genetic Analyses

   Author : Henrik Johansson; Mats Nilsson; Ivo Gut; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; microfluidics; PCR; sequencing; cancer genetics; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; Medicinsk genetik;

   Abstract : Methods that enable interrogation of multiple genomic regions in parallel are very useful for efficient detection of genetic variation. Two different types of probes are described in this thesis that can be used for direct analysis or for sample preparation upstream of Next Generation Sequencing. READ MORE

7. 5. Molecular Analysis of Breast Cancer Transcriptomes, Genomes, and Circulating Tumor DNA

   Author : Eleonor Olsson; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer stem cells; RNA splicing; breast cancer; mutations; circulating tumor DNA; early detection of recurrent breast cancer; sequencing;

   Abstract : Breast cancer is a very heterogeneous disease in terms of clinical characteristics, genetic aberrations and prognosis. In Paper I, we focused on the CD44 molecule that often is aberrantly expressed in breast cancer and is widely used as a marker for cancer stem cells. READ MORE