Sökning: "linked-read sequencing"

Hittade 4 avhandlingar innehållade orden linked-read sequencing.

  1. 1. Phasing single DNA molecules with barcode linked sequencing

    Författare :David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single molecule sequencing; DNA barcoding; whole genome haplotyping; linked-read sequencing; phasing; de novo genome assembly.; Biotechnology; Bioteknologi;

    Sammanfattning : Elucidation of our genetic constituents has in the past decade predominately taken the form of short-read DNA sequencing. Revolutionary technology developments have enabled vast amounts of biological information to be obtained, but from a medical standpoint it has yet to live up to the promise of associating individual genotypes to phenotypic states of wide-spread clinical relevance. LÄS MER

  3. 2. Resolving the Genomic Complexity of Pediatric Acute Lymphoblastic Leukemia

    Författare :Yanara Marincevic-Zuniga; Ann-Christine Syvänen; Caroline Heckman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute lymphoblastic leukemia ALL ; 450k array; DNA methylation; RNA-sequencing; linked-read WGS; B-other; fusion gene; chromosomal translocation; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer in the Nordic countries. Structural chromosomal rearrangements are a hallmark of ALL and represent key markers for diagnosis, risk stratification and prognosis. LÄS MER

  4. 3. Exploring human variations by droplet barcoding

    Författare :Pontus Höjer; Afshin Ahmadian; Pelin Sahlén; Lars Feuk; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; droplets; linked-read sequencing; DNA barcoding; proteomics; genomics; single cell; single extracellular vesicle; single exosome; pipelines; Biotechnology; Bioteknologi;

    Sammanfattning : Biological variations are being explored at ever-increasing rates through the rapid advancement of analytical techniques. Techniques like massively parallel sequencing empower scientists to accurately differentiate individuals’ genetic compositions, cellular functionalities, and healthy tissue from diseased. LÄS MER

  5. 4. Gene regulation in normal and malignant B-lineage cells

    Författare :Lucía Peña Pérez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : B-cells are the central players of humoral immunity. It is known that their development is orchestrated by a small group of transcription factors including the E-proteins and the FOXO proteins, yet this process is far from completely understood. LÄS MER