Yulan Lu

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

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.