In a prospective cohort study of 9,992 newborns in Qingdao, China, whole-genome sequencing (WGS) identified 268 screen-positive cases and clinically confirmed 19 disorders, 8 of which were missed by traditional newborn screening. These findings highlight that WGS can detect monogenic conditions more effectively than standard methods and could improve early diagnosis in routine neonatal screening.
- Songchang Chen
- Hui Huang
- Silin Pan
