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Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

18 Nov 2022

Abstract excerpt

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone...

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PMID: 36422100
DOI: 10.3390/jpm12111924

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