Sökning: "Next generation sequencing"

Visar resultat 21 - 25 av 180 avhandlingar innehållade orden Next generation sequencing.

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

    Författare :Svea Stratmann; Linda Holmfeldt; Caroline Heckman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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;

    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

  3. 22. Birds as a Model for Comparative Genomic Studies

    Författare :Axel Künstner; Hans Ellegren; Hanna Johannesson; Chris Ponting; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Birds; Selection; Gene expression; Sequence evolution; Next-generation sequencing; Comparative genomics; Molecular evolution; Genomics; Substitution Rates; Non-coding DNA; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

    Sammanfattning : Comparative genomics provides a tool to investigate large biological datasets, i.e. genomic datasets. In my thesis I focused on inferring patterns of selection in coding and non-coding regions of avian genomes. LÄS MER

  4. 23. 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

  5. 24. Microfluidic and Molecular Tools for Genetic Analyses

    Författare :Henrik Johansson; Mats Nilsson; Ivo Gut; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; microfluidics; PCR; sequencing; cancer genetics; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Methods that enable interrogation of multiple genomic regions in parallel are very useful for efficient detection of genetic variation. Two different types of probes are described in this thesis that can be used for direct analysis or for sample preparation upstream of Next Generation Sequencing. LÄS MER

  7. 25. Single Molecule Detection : Microfluidic Automation and Digital Quantification

    Författare :Malte Kühnemund; Mats Nilsson; Ulf Landegren; Sten Linnarsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single molecule; digital; rolling circle amplification; magnetic particle; padlock probe; microfluidics; resistive pulse sensing; lab on chip; mobile phone microscopy; enrichment; sequencing;

    Sammanfattning : Much of recent progress in medical research and diagnostics has been enabled through the advances in molecular analysis technologies, which now permit the detection and analysis of single molecules with high sensitivity and specificity. Assay sensitivity is fundamentally limited by the efficiency of the detection method used for read-out. LÄS MER