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  • A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases 

    Greene, D; NIHR BioResource; Richardson, S; Turro, E (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, J; Coll, J; Haimel, M; Kandasamy, S; Tarraga, J; Furio-Tari, P; Bari, W et al. (2017-07-03)
  • Platelet function is modified by common sequence variation in megakaryocyte super enhancers 

    Petersen, R; Lambourne, JJ; Javierre, BM; Grassi, L; Kreuzhuber, R; Ruklisa, D; 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 ...
  • Mapping platelet trait associated variants with DNA long-range interactions reveals super enhancer role in thrombosis 

    Petersen, RK
    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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