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Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

13 Jun 2019

Abstract excerpt

BACKGROUND: Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown. METHODS: RapSeq, a newly developed panel targeting 4,503 disease-causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty...

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PMID: 31192527
DOI: 10.1002/mgg3.796

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