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Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards

23 Jun 2025

Abstract excerpt

OBJECTIVE: To assess the impact on diagnostic yield and time to precise genetic diagnosis (PrGD) for children receiving genetic consultations in non-critical care settings after policy implementation allowing rapid exome sequencing (rES) and rapid genome sequencing (rGS) as first-line tests. STUDY DESIGN: Retrospective chart review for children admitted to a general pediatric ward who received a genetics...

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PMID: 40562302
DOI: 10.1016/j.jpeds.2025.114699

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