Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance
利用剪接影响变异预测器和微基因验证系统，从外显子捕获的、意义未明的变异中识别孟德尔遗传病致病变异。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23294
Soens, Zachry T; Branch, Justin; Wu, Shijing; Yuan, Zhisheng; Li, Yumei; Li, Hui; Wang, Keqing; Xu, Mingchu; Rajan, Lavan; Motta, Fabiana L; Simões, Renata T; Lopez-Solache, Irma; Ajlan, Radwan; Birch, David G; Zhao, Peiquan; Porto, Fernanda B; Sallum, Juliana; Koenekoop, Robert K; Sui, Ruifang; Chen, Rui
