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

Monica H. Wojcik; Kristen P. Fishler; Bimal P. Chaudhari

doi:10.1007/s00439-022-02498-x

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

Monica H. Wojcik, Kristen P. Fishler, Bimal P. Chaudhari

Research output: Contribution to journal › Letter › peer-review

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.

Original language	English (US)
Pages (from-to)	161-164
Number of pages	4
Journal	Human genetics
Volume	142
Issue number	2
DOIs	https://doi.org/10.1007/s00439-022-02498-x
State	Published - Feb 2023
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”",

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.",

author = "Wojcik, {Monica H.} and Fishler, {Kristen P.} and Chaudhari, {Bimal P.}",

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AB - 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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Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”

Abstract

ASJC Scopus subject areas

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