A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Damian Smedley, Max Schubach, Julius O O.B. Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L L. Washington, Julie A A. McMurry, Melissa A A. Haendel, Christopher J J. Mungall, Suzanna E E. Lewis, Tudor Groza, Giorgio Valentini, Peter N N. Robinson

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Medicine & Life Sciences