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

著者: Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson - The American Journal of Human Genetics 2016 被引用: 295