Search for dissertations about: "rna sequencing analysis using ngs"

Showing result 1 - 5 of 9 swedish dissertations containing the words rna sequencing analysis using ngs.

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. Molecular characterization of the hepatitis C virus core protein

   Author : Priya Devi; Anders Bergqvist; Björn Olsen; Tanel Punga; Gerald McInerney; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; HCV; core protein; SHP-1; CpG methylation; bisulfite sequencing; NGS; PBMC; Ca2 NFAT; strand-specific RT qPCR; Klinisk virologi; Clinical Virology; Infektionssjukdomar; Infectious Diseases; Mikrobiologi; Microbiology; Medical Virology; Medicinsk virologi;

   Abstract : Hepatitis C virus (HCV) is an RNA virus that causes chronic infection, which can lead to hepatocellular carcinomas in humans. Besides liver diseases, the chronic HCV infection causes a broad spectrum of extrahepatic complications such as lymphoproliferative, metabolic and autoimmune disorders. READ MORE

5. 3. Development and Application of Genomic Resources in Non-model Bird Species

   Author : Biao Wang; Jacob Höglund; Christopher Wheat; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; genome; transcriptome; next generation sequencing; non-model species; bioinformatics; reference guided assembly; RNA-Seq; comparative genomics; gene expression; major histocompatibility complex; single nucleotide polymorphism; microsatellite; Biologi; Biology;

   Abstract : Understanding the genetic basis of biological processes is a fundamental component of modern ecology and evolutionary biology studies. With the recent advent of next generation sequencing (NGS) technologies, it is now possible to perform large genome and transcriptome projects for ecologically important non-model species. READ MORE

6. 4. Application of next generation sequencing in genetic and genomic studies

   Author : Jingwen Wang; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Genetic variants that spread along the human genome play vital roles in determining our traits, affecting development and potentially causing disorders. Most common disorders have complex underlying mechanisms involving genetic or environmental factors and the interaction between them. READ MORE

7. 5. Developing methods for mapping genetic heterogeneity in tumors : from bulk to single-cell resolution

   Author : Michele Simonetti; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Tumors are complex ecosystems composed of billions of cells that constantly evolve over time. Intra-tumor heterogeneity (ITH) represents the diversity of this complex environment quantifiable both at the genetic and phenotypic level. Recently, next-generation sequencing (NGS) costs have dropped and NGS has become the standard tool for studying ITH. READ MORE