Sökning: "De Novo sequencing"

Visar resultat 11 - 15 av 51 avhandlingar innehållade orden De Novo sequencing.

  1. 11. Genomics and metabolomics in the North Atlantic deep-sea sponge Geodia barretti

    Författare :Karin Steffen; Paco Cárdenas; Ulf Göransson; Anders Backlund; Susanna López-Legentil; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; demosponge; whole genome sequencing; population genetics; peptide synthesis; Farmakognosi; Pharmacognosy;

    Sammanfattning : Sponges are among the earliest diverging taxa in the animal tree of life. They are sessile, filter-feeding animals found in marine and freshwater habitats. Many species are characterized by a close, specific and consistent association with microbes, mainly Bacteria and Archaea. LÄS MER

  3. 12. Genetic studies of craniosynostosis with focus on syndromic forms

    Författare :Alexandra Topa; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cranial; suture; genetic; diagnostic; next generation sequencing;

    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

  4. 13. Measurable residual disease and clonal evolution in acute myeloid leukemia with focus on NPM1-mutations

    Författare :Louise Pettersson; Lund Patologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; AML; MRD; Measurable residual disease; NPM1; NPM1-mutation; NPM1 type A mutation; clonal evolution; clonal patterns; subclones; genetic evolution; qPCR; RQ-PCR; ddPCR; deep seq; deep sequencing; NGS; RT-qPCR; old; elderly; MFC; flow cytometry;

    Sammanfattning : Acute myeloid leukemia (AML) is the most common form of acute leukemia in adults, with mutations in the NPM1 gene occurring in almost one third of all cases. The ability to detect residual leukemia below the resolution of conventional microscopy is crucial for evaluation of relapse risk after therapy. LÄS MER

  5. 14. Sequence based analysis of neurodevelopmental disorders

    Författare :Jonatan Halvardson; Lars Feuk; Alexandre Reymond; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical Genetics; Medicinsk genetik;

    Sammanfattning : In this thesis the main focus is the use of methods and applications of next generation sequencing in order to study three of the most common neurodevelopmental disorders: intellectual disability, epilepsy and schizophrenia. A large fraction of the genes in our genome produce several distinct transcript isoforms through the process of splicing and there is an increasing amount of evidence pinpointing mutations affecting splicing as a mechanism of disease. LÄS MER

  7. 15. Epigenetic Control of Mammalian Development : Studies on an imprinting control region

    Författare :Liang Liu; Pärt Peterson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Epigenetic; Genomic imprinting; DNA methylation; Igf2; H19; Insulator; CTCF; Imprinting control region; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; zoologisk utvecklingsbiologi; Animal Development;

    Sammanfattning : A subset of autosomal genes is preferentially or exclusively expressed from one of the parental alleles. This phenomenon, termed genomic imprinting, is highlighted by the neighboring Igf2 and H19 genes, which are monoallelically expressed on opposite parental chromosomes. These features are governed by a 2. LÄS MER