Search for dissertations about: "whole-exome"

Showing result 1 - 5 of 44 swedish dissertations containing the word whole-exome.

  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. Characterizing the spectrum of somatic alterations in canine and human cancers

    Author : Sharadha Sakthikumar; Kerstin Lindblad-Toh; Richard Rosenquist Brandell; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; dog; osteosarcoma; hemangiosarcoma; glioblastoma; non-coding; whole-exome; whole-genome; sequencing; bioinformatics; comparative genetics.;

    Abstract : Cancers arise as a result of deleterious somatic alterations accumulating in the genome during the process of cell division. These alterations arise either via exposure to mutagens or due to errors occurring during DNA replication. READ MORE

  5. 3. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies

    Author : Kalliopi Sofou; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mitochondrial diseases; mitochondrial encephalopathy; Alpers syndrome; Leigh syndrome; neuroimaging; whole exome sequencing;

    Abstract : Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. READ MORE

  6. 4. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Author : Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Abstract : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. READ MORE

  7. 5. Novel genetic associations with common variable immunodeficiency

    Author : Omar Khalid Sharif Alkhairy; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Common variable immunodeficiency (CVID) is the most frequently encountered primary immunodeficiency disorder in clinical practice and is a cause of significant morbidity and mortality for patients. The main clinical features are hypogammaglobulinemia, recurrent infections and autoimmune disorders. READ MORE