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Recent Submissions

  • A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss 

    Stritt, S; Nurden, P; Turro, Ernest; Greene, D; Jansen, SB; Westbury, SK; Petersen, R et al. (American Society of Hematology, 2016-06-09)
    Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because ...
  • A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases 

    Greene, Daniel; NIHR BioResource,; Richardson, Sylvia Therese; Turro, Ernest (Elsevier, 2017-07-06)
    We present a rapid and powerful inference procedure for identifying loci associated with rare hereditary disorders using Bayesian model comparison. Under a baseline model, disease risk is fixed across all individuals in a ...
  • HGVA: the Human Genome Variation Archive. 

    Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, Wasim et al. (2017-05-23)
  • Platelet function is modified by common sequence variation in megakaryocyte super enhancers 

    Petersen, R; Lambourne, John Joseph; Javierre, BM; Grassi, Luigi; Kreuzhuber, R; Ruklisa, Dace; Rosa, IM et al. (Springer Nature, 2017-07-13)
    Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to ...

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