Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Abstract
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 trios were sequenced from October...
Paper Details
Title
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Published Date
Jun 13, 2019
Volume
7
Issue
7
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