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. 2023 Feb;142(2):161-164.
doi: 10.1007/s00439-022-02498-x. Epub 2022 Nov 10.

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

Monica H Wojcik  1 , Kristen P Fishler  2 , Bimal P Chaudhari  3
Affiliations

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

Monica H Wojcik et al. Hum Genet. 2023 Feb.

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.

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References

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