A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
用于有效识别孟德尔疾病致病性调控变异的全基因组分析框架
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.07.005
Smedley, Damian; Schubach, Max; Jacobsen, Julius O B; Köhler, Sebastian; Zemojtel, Tomasz; Spielmann, Malte; Jäger, Marten; Hochheiser, Harry; Washington, Nicole L; McMurry, Julie A; Haendel, Melissa A; Mungall, Christopher J; Lewis, Suzanna E; Groza, Tudor; Valentini, Giorgio; Robinson, Peter N