Leveraging Splice-Affecting Variant Predictors and a Minigene Validation System to Identify Mendelian Disease-Causing Variants among Exon-Captured Variants of Uncertain Significance

Zachry T. Soens,Justin Branch,Shijing Wu,Zhisheng Yuan,Yumei Li,Hui Li,Keqing Wang,Mingchu Xu, Lavan Rajan,Fabiana L. Motta,Renata T. Simoes,Irma Lopez-Solache,Radwan Ajlan,David G. Birch,Peiquan Zhao,Fernanda B. Porto,Juliana Sallum,Robert K. Koenekoop,Ruifang Sui,Rui Chen

Human Mutation（2017）

Cited 28|Views60

Key words

inherited retinal degenerations,minigene,Mendelian disease,molecular diagnosis,noncanonical splicing variants,variants of uncertain significance (VUS)

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