Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Human Mutation
Soens, Zachry T ZT; Branch, Justin J; Wu, Shijing S; Yuan, Zhisheng Z; Li, Yumei Y; Li, Hui H; Wang, Keqing K; Xu, Mingchu M; Rajan, Lavan L; Motta, Fabiana L FL; Simões, Renata T RT; Lopez-Solache, Irma I; Ajlan, Radwan R; Birch, David G DG; Zhao, Peiquan P; Porto, Fernanda B FB; Sallum, Juliana J; Koenekoop, Robert K RK; Sui, Ruifang R; Chen, Rui R