Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Hyun Joo LeeJoo Hee LimJeong Eun ShinHo Seon EunMin Soo ParkKook In ParkRan NamgungJin Sung LeePublished in: Yonsei medical journal (2019)
The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlier diagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.