The article discusses a method using whole-genome sequencing (WGS) to diagnose genetic disorders in neonates within 50 hours, significantly faster than traditional methods. The study highlights the potential of WGS in neonatal intensive care units (NICUs) for rapid diagnosis, which can lead to timely treatment and counseling. The research includes retrospective and prospective analyses, demonstrating the effectiveness of WGS in identifying genetic disorders and novel candidate genes. The article emphasizes the importance of rapid WGS in clinical settings, especially for acutely ill neonates.
documents/EFTA00315100.pdf
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