Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
CONCLUSION: 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.
PMID: 31637888 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Lee H, Lim J, Shin JE, Eun HS, Park MS, Park KI, Namgung R, Lee JS Tags: Yonsei Med J Source Type: research