Sökning: "single nucleotide variant resolution"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden single nucleotide variant resolution.

  1. 1. RNA-based spatial characterization of cell and tissue heterogeneity

    Författare :Elin Lundin; Mats Nilsson; Rickard Sandberg; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Padlock probes; in situ sequencing; single cell resolution; single nucleotide variant resolution; spatial transcription profiling; Biochemistry; biokemi;

    Sammanfattning : Technical advances in cell biology have revolutionized the field of cell biology. With new technology it is now possible to address scientific questions in cell biology at the molecular level. LÄS MER

  3. 2. Developing methods for mapping genetic heterogeneity in tumors : from bulk to single-cell resolution

    Författare :Michele Simonetti; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Tumors are complex ecosystems composed of billions of cells that constantly evolve over time. Intra-tumor heterogeneity (ITH) represents the diversity of this complex environment quantifiable both at the genetic and phenotypic level. Recently, next-generation sequencing (NGS) costs have dropped and NGS has become the standard tool for studying ITH. LÄS MER

  4. 3. Next generation molecular diagnostics using ultrasensitive sequencing

    Författare :Stefan Filges; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Liquid biopsy; cell-free DNA; circulating tumor DNA; molecular diagnostics; next-generation sequencing; unique molecular identifiers; melanoma;

    Sammanfattning : Massively parallel sequencing enables the exploration of the genetic heterogeneity within microbial, viral and tumor cell populations. Detecting circulating tumor DNA in blood and other body fluids has the potential to revolutionize molecular diagnostics. LÄS MER

  5. 4. SNP based strategies to study candidate genes for Alzheimer’s disease

    Författare :Lars Feuk; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Alzheimer s disease; complex disease; SNP; polymorphism; association study; genotyping; DASH;

    Sammanfattning : Alzheimer’s disease (AD) is the most common form of dementia in the elderly. It is a genetically heterogeneous disease characterized by progressive cognitive decline and memory impairment. The rare familial form of AD is caused by three different genes called APP, PSEN1 and PSEN2. LÄS MER

  7. 5. Barcoded DNA Sequencing for Parallel Protein Detection

    Författare :Mahya Dezfouli; Afshin Ahmadian; Ulf Landegren; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA barcoding; antibody labeling; antibody oligonucleotide bio-conjugation; DNAassisted proteomics; immuno-sequencing I-Seq ; droplet-based system; large-scale data analysis; Biotechnology; Bioteknologi;

    Sammanfattning : The work presented in this thesis describes methodologies developed for integration and accurate interpretation of barcoded DNA, to empower large-scale-omics analysis. The objectives mainly aim at enabling multiplexed proteomic measurements in high-throughput format through DNA barcoding and massive parallel sequencing. LÄS MER