Sökning: "WES"

Visar resultat 1 - 5 av 23 avhandlingar innehållade ordet WES.

  1. 1. The effect of common and rare variants on inflammatory traits and diseases

    Författare :Julia Höglund; Åsa Johansson; Matthew Robinson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; inflammation; biomarkers; WES; WGS; NSPHS; UK Biobank; association study;

    Sammanfattning : Genome wide association studies (GWAS) have identified thousands of loci associated to an immense number of traits and diseases. Most associations have been to common variants, but rare variant associations are progressively being reported. LÄS MER

  3. 2. Exploring genetic heterogeneity in cancer using high-throughput DNA and RNA sequencing

    Författare :Erik Fasterius; Cristina Al-Khalili Szigyarto; Mathias Uhlén; Peter-Bram ’t Hoen; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Biotechnology; bioinformatics; RNA-seq; WGS; WES; systems biology; variant analysis; single nucleotide variant; gene expression; machine learning; clustering; open source; R; bioconductor; Python; Bioteknologi; Biotechnology;

    Sammanfattning : High-throughput sequencing (HTS) technology has revolutionised the biomedical sciences, where it is used to analyse the genetic makeup and gene expression patterns of both primary patient tissue samples and models cultivated in vitro. This makes it especially useful for research on cancer, a disease that is characterised by its deadliness and genetic heterogeneity. LÄS MER

  4. 3. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

    Författare :Jakob Hofvander; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Sarcomas; Gene fusion; tumor evolution; clonal heterogeneity; RNA-seq; WES; SNP-array;

    Sammanfattning : .... LÄS MER

  5. 4. Forestry machine and soil interaction for sustainable forestry

    Författare :Abdurasul Pirnazarov; Ulf Sellgren; Kjell Andersson; Sally Shoop; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; CTL-logging; forestry machine; forwarder; multi-body simulations; roots; terramechanics; wheel-soil interaction; WES model; Machine Design; Maskinkonstruktion;

    Sammanfattning : More than 50 percent of the land area of the Nordic countries Finland, Norway, and Sweden are covered by dense forests and they are among the most important producers of forest products in the world. Forestry in these countries is based on sustainable management principles – reforestation follows harvesting. LÄS MER

  7. 5. 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