Sökning: "snvs"

Visar resultat 1 - 5 av 15 avhandlingar innehållade ordet snvs.

  1. 1. Molecular and genetic studies in high-risk neuroblastoma

    Författare :Angela Martinez-Monleon; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; neural crest; neuroblastoma; heterogeneity; relapse; sequencing; CNVs; SVs; SNVs; LSAMP; CDK4; MDM2;

    Sammanfattning : Neuroblastoma is the most common and deadly cancer in the first year of life. Children with high-risk neuroblastoma have a very poor prognosis, despite heavy multimodal treatment, with less than 50% of 5 years of overall survival. LÄS MER

  3. 2. Next Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia

    Författare :Erik Delsing Malmberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acute myeloid leukemia; minimal residual disease; massively parallel sequencing; next generation sequencing; NPM1; alloHCT;

    Sammanfattning : Acute myeloid leukemia (AML) is the most common form of acute leukemia and generally associated with a poor prognosis. For both children and adults, the treatment is based on chemotherapy. Allogeneic hematopoietic stem cell transplant (alloHCT) is reserved for patients with intermediate or high risk of relapse, due to its associated risks. LÄS MER

  4. 3. Taxane-Induced Peripheral Neuropathy among Early-Stage Breast Cancer Survivors : Prevalence, Risk Factors, Quality of Life and Genetic Prediction Models

    Författare :Kristina Engvall; Elisabeth Åvall-Lundqvist; Henrik Gréen; Niklas Loman; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Early-stage breast cancer; Taxane; Chemotherapy-induced peripheral neuropathy; Risk factors; Polygenic prediction models;

    Sammanfattning : Background: Taxane-induced peripheral neuropathy (TIPN) is a common and distressful side effect. Little is known on how long TIPN persist and its effect on health-related quality of life (HRQL). LÄS MER

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

    Författare :Eleonor Olsson; Bröstcancer-genetik; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  7. 5. Tools and pipelines for interpreting the impacts of genetic variants

    Författare :Abhishek Niroula; Proteinbioinformatik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Genetic variants; Machine Learning; cancer genomics; Variation interpretation;

    Sammanfattning : Next generation sequencing (NGS) methods have been widely used for diagnosis. As time and cost of sequencing has reduced sharply during the last decade, genome and exome-wide sequencing have increasingly been used. LÄS MER