Search for dissertations about: "WGS"

Showing result 1 - 5 of 47 swedish dissertations containing the word WGS.

  2. 1. The age of museomics : How to get genomic information from museum specimens of Lepidoptera

    Author : Elsa Call; Biodiversitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Museomics; Museum specimens; Lepidoptera; WGS; Target enrichment; Phylogenomics; NGS;

    Abstract : In the age of museomics, the ability to sequence the genetic material from old museum specimens provides an invaluable and often untapped molecular resource. The application of the latest Next-Generation sequencing (NGS) technologies to such specimens allows us to utilise the diverse biobank that is natural history museums. READ MORE

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

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

    Abstract : 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. READ MORE

  5. 3. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

    Author : Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

    Abstract : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). READ MORE

  6. 4. Genetic diversity and differentiation in natural and managed stands of Norway spruce (Picea abies)

    Author : Helena Eklöf; Pär K. Ingvarsson; Xiao-Ru Wang; Carolina Bernhardsson; Katri Kärkkäinen; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Norway spruce; Picea abies; forestry; genetic diversity; seed orchards; forest management; WGS; GBS; sequencing; PoolSeq; capture probes; genetic differentiation;

    Abstract : Being one of Sweden’s most important tree species, both as a keystone species and for the forest industry, it is important that we keep our stands of Norway spruce (Picea abies (L.) Karst.) as healthy as possible. READ MORE

  7. 5. Exploring genetic heterogeneity in cancer using high-throughput DNA and RNA sequencing

    Author : Erik Fasterius; Cristina Al-Khalili Szigyarto; Mathias Uhlén; Peter-Bram ’t Hoen; KTH; []
    Keywords : 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;

    Abstract : 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. READ MORE