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Review
. 2022 Mar;49(1):167-179.
doi: 10.1016/j.clp.2021.11.018. Epub 2022 Jan 21.

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Michael Muriello  1
Affiliations
Review

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Michael Muriello. Clin Perinatol. 2022 Mar.

Abstract

The role of genomic sequencing (exome and whole genome) in the neonatal intensive care unit (NICU) has changed with advances in technology and bioinformatics in the last decade. Evidence from 18 retrospective and prospective studies of exome and whole genome sequencing in pediatric intensive care settings has demonstrated an average diagnostic yield of close to 40% and an immediate impact on clinical management in more than 20% of patients tested, and the highest clinical utility was in the perinatal setting. Genomic sequencing, when indicated, should be the standard of care for patients in the NICU.

Keywords: Exome sequencing; Genomic sequencing; Whole genome sequencing.

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Conflict of interest statement

Disclosure The author has no commercial or financial conflicts of interests and no external funding sources.