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

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

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

Afiliação

Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Fishler KP; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Chaudhari BP; Divisions of Genetics and Genomic Medicine, Neonatology, Department of Pediatrics, The Ohio State College of Medicine and the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA. Bimal.Chaudhari@NationwideChildrens.org.

Hum Genet ; 142(2): 161-164, 2023 Feb.

Article em En | MEDLINE | ID: mdl-36355221

ABSTRACT

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.

Assuntos

Neonatologia; Recém-Nascido; Humanos; Testes Genéticos; Sequenciamento de Nucleotídeos em Larga Escala; Sequenciamento do Exoma; Mapeamento Cromossômico

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neonatologia Limite: Humans / Newborn Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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