Sökning: "next generation sequencing WGS WES"
Hittade 4 avhandlingar innehållade orden next generation sequencing WGS WES.
1. Multi-omics analysis of relapsed acute myeloid leukemia
Sammanfattning : 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. LÄS MER
2. Genetic studies of craniosynostosis with focus on syndromic forms
Sammanfattning : 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. LÄS MER
3. Sequence based identification of genetic variation associated with intellectual disability
Sammanfattning : 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. LÄS MER
4. Pharmacogenetic biomarkers for chemotherapy-induced adverse drug reactions
Sammanfattning : 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). LÄS MER
