Junwei Sun

This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.

This study validates a noninvasive prenatal diagnosis method for Duchenne Muscular Dystrophy using direct haplotype phasing from maternal DNA sequencing.

This study demonstrates the feasibility and accuracy of haplotype-based noninvasive prenatal diagnosis for Duchenne Muscular Dystrophy using targeted sequencing in a cohort of at-risk pregnancies.

This study shows that adding genetic screening to newborn hearing tests in China improves detection and reduces loss-to-follow-up, with significant benefits for identifying preventable hearing loss.

This study identifies a novel TTN mutation causing autosomal dominant atrioventricular block in a Chinese family through whole-exome sequencing and co-segregation analysis.

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.