Wenhao Zhou

The paper presents a hybrid experimental and computational framework to quantify variant abundance in globin genes, using saturation mutagenesis and deep learning for cross-paralog prediction.

The paper introduces HapICE, a method to improve variant detection in SBDS using NGS, achieving higher diagnostic accuracy than conventional methods.

This study identifies CNTNAP3 mutations in ASD cohorts and shows its role in synaptic development and social behavior in mice.