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

Monica Hsiung Wojcik Kristen P Fishler Bimal P Chaudhari

Published in: Human genetics (2022)

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.

Keyphrases

healthcare
palliative care
loop mediated isothermal amplification
quality improvement
copy number
high resolution
pain management
single cell
gene expression
genome wide
single molecule
dna methylation
mass spectrometry