Search for dissertations about: "next generation sequencing WGS WES"

Found 4 swedish dissertations containing the words next generation sequencing WGS WES.

  2. 1. Multi-omics analysis of relapsed acute myeloid leukemia

    Author : Svea Stratmann; Linda Holmfeldt; Caroline Heckman; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute myeloid leukemia AML ; relapse and resistance; next generation sequencing WGS WES ; RNA-sequencing; DNA methylation; HiRIEF LC-MS; proteogenomics; Molekylär medicin; Molecular Medicine;

    Abstract : The prognosis for patients suffering from acute myeloid leukemia (AML) remains unsatisfactory and survival is often measured in months. Although the majority of patients achieve complete remission after aggressive treatment, most of them relapse within a few years. READ MORE

  4. 2. Genetic studies of craniosynostosis with focus on syndromic forms

    Author : Alexandra Topa; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : cranial; suture; genetic; diagnostic; next generation sequencing;

    Abstract : Craniosynostosis (CS) represents the premature closure of skull sutures and affects ~1 in 2500 children. Untreated CS can lead to significant complications in craniofacial and psychomotor development. The only treatment available is surgical and requires access to highly specialized healthcare. READ MORE

  5. 3. Sequence based identification of genetic variation associated with intellectual disability

    Author : Jin Zhao; Lars Feuk; Anna Lindstrand; Uppsala universitet; []
    Keywords : ;

    Abstract : Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic variation in ID patients. READ MORE

  6. 4. Pharmacogenetic biomarkers for chemotherapy-induced adverse drug reactions

    Author : Niclas Björn; Henrik Green; Svante Vikingsson; Joakim Lundeberg; Johan Staaf; Linköpings universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES;

    Abstract : Cancer is a serious disease expected to be the world-leading cause of death in the 21st century. The use of harsh chemotherapies is motivated and accepted but, unfortunately, is often accompanied by severe toxicity and adverse drug reactions (ADRs). READ MORE