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Showing result 1 - 5 of 73 swedish dissertations matching the above criteria.

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. Exploring genetic diversity in natural and domestic populations through next generation sequencing

   Author : Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Ecological adaptation; seasonal reproduction; Atlantic herring; domestication; speciation; rabbit; skeletal atavism; Shetland ponies; NGS; SMRT sequencing; genome; transcriptome; assembly; structural variation; genetic diversity; HCE; TSHR; SHOX; CRLF2;

   Abstract : Studying genetic diversity in natural and domestic populations is of major importance in evolutionary biology. The recent advent of next generation sequencing (NGS) technologies has dramatically changed the scope of these studies, enabling researchers to study genetic diversity in a whole-genome context. READ MORE

5. 3. Hepatitis E virus in the virome of water and animals

   Author : Hao Wang; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; pig; wild boar; wastewater; tap water; enteric virus; NGS;

   Abstract : This thesis was aimed to investigate viruses in different animals and water to get some understanding of viruses that disseminate into the environment. Next generation sequencing (NGS) was used to explore the virome from raw to treated water at two Swedish drinking water treatment plants (DWTP) and in tap water. READ MORE

6. 4. 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

7. 5. The age of museomics : How to get genomic information from museum specimens of Lepidoptera

   Author : Elsa Call; Biodiversitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Museomics; Museum specimens; Lepidoptera; WGS; Target enrichment; Phylogenomics; NGS;

   Abstract : In the age of museomics, the ability to sequence the genetic material from old museum specimens provides an invaluable and often untapped molecular resource. The application of the latest Next-Generation sequencing (NGS) technologies to such specimens allows us to utilise the diverse biobank that is natural history museums. READ MORE