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Article

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

7 Mar 2019

Abstract excerpt

PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. METHODS: We performed trio whole genome sequence (WGS) analysis on a...

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PMID: 30847515
DOI: 10.1007/s00134-019-05552-x

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