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The Role of Genome Sequencing in Neonatal Intensive Care Units

8 Jun 2022

Abstract excerpt

Genetic diseases disrupt the functionality of an infant's genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the United States. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping and diverse clinical phenotypes, diagnostic genome sequencing in neonatal intensive care units has required the development of methods to shorten turnaround...

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PMID: 35676073
DOI: 10.1146/annurev-genom-120921-103442

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