Open access
Aug 2026
Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns
A comprehensive PAH gene sequencing technology based on the HiFi LRS platform that enables comprehensive detection of the PAH gene, including complex variants and cis–trans configurations, thereby improving the accuracy of second-tier PKU screening in newborns and reducing unnecessary recalls.
Shu-Yuan Xue, Ziyi Feng, Jingying Zhu et al.
· Orphanet Journal of Rare Dis... · 0 citations