Article
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Nature communications - 13 Jul 2017
Petersen Romina, Lambourne John J, Javierre Biola M, Grassi Luigi, Kreuzhuber Roman, Ruklisa Dace, Rosa Isabel M, Tomé Ana R, Elding Heather, van Geffen Johanna P, Jiang Tao, Farrow Samantha, Cairns Jonathan, Al-Subaie Abeer M, Ashford Sofie, Attwood Antony, Batista Joana, Bouman Heleen, Burden Frances, Choudry Fizzah A, Clarke Laura, Flicek Paul, Garner Stephen F, Haimel Matthias, Kempster Carly, Ladopoulos Vasileios, Lenaerts An-Sofie, Materek Paulina M, McKinney Harriet, Meacham Stuart, Mead Daniel, Nagy Magdolna, Penkett Christopher J, Rendon Augusto, Seyres Denis, Sun Benjamin, Tuna Salih, van der Weide Marie-Elise, Wingett Steven W, Martens Joost H, Stegle Oliver, Richardson Sylvia, Vallier Ludovic, Roberts David J, Freson Kathleen, Wernisch Lorenz, Stunnenberg Hendrik G, Danesh John, Fraser Peter, Soranzo Nicole, Butterworth Adam S, Heemskerk Johan W, Turro Ernest, Spivakov Mikhail, Ouwehand Willem H, Astle William J, Downes Kate, Kostadima Myrto, Frontini Mattia
Abstract excerpt
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 determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential...
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