Bioinformatics of genomic association mapping

    Research output: ThesisThesis fully internal (DIV)

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    Abstract

    In this thesis we present an overview of bioinformatics-based approaches for genomic association mapping, with emphasis on human quantitative traits and their contribution to complex diseases. We aim to provide a comprehensive walk-through of the classic steps of genomic association mapping illustrating the application and development of bioinformatics tools along the way. We start with a classic heritability study, continue with providing novel tools for genome-wide association studies (GWASs) of complex traits, and end with an integrated post-GWAS pipeline for translating GWAS findings of any human trait or disease to biological knowledge. Using this A-to-Z approach, we emphasize the importance of following the consecutive steps of genomic association mapping. To show how bioinformatics tools can facilitate and support analysis of high-throughput biological data, in Chapters 2, 3, 5, 6, and 7 we applied a number of already available tools, whereas in Chapters 3, 4, and 7 we developed novel bioinformatics tools supporting appropriate analysis of “big data” for genomic association mapping. Our in-house developed and extensively documented bioinformatics tools are freely available to the scientific community for further use. Furthermore, and as a running example of genomic association mapping of a typical human complex trait, we strictly adhered to serum levels of C-reactive protein (CRP). Using appropriate bioinformatics-based tools, either already available or our in-house developed ones, we succeeded to gain in knowledge of biological mechanisms controlling serum levels of CRP as well as its (causal) contribution to the pathophysiology of human diseases.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    Supervisors/Advisors
    • Snieder, Harold, Supervisor
    • Alizadeh, Behrooz, Co-supervisor
    • Nolte, Ilja, Co-supervisor
    • Boezen, Marike, Assessment committee
    • Franco, Oscar H., Assessment committee, External person
    • Chasman, Daniel I., Assessment committee, External person
    Award date23-Sep-2015
    Place of Publication[Groningen]
    Publisher
    Print ISBNs978-90-367-8202-9
    Electronic ISBNs978-90-367-8201-2
    Publication statusPublished - 2015

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