Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"

Authors :: Wojcik MH
Fishler KP
Chaudhari BP
Source :: Human genetics [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 161-164. Date of Electronic Publication: 2022 Nov 10.
Publication Year :: 2023
Abstract: Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.<br /> (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Subjects :: Infant, Newborn
Humans
Genetic Testing
High-Throughput Nucleotide Sequencing
Exome Sequencing
Chromosome Mapping
Neonatology

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