Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the d...

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Bibliographic Details
Main Authors: María José de Castro, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Enrique Salguero, Segundo Rite, Olalla López-Suárez, Alejandro Pérez-Muñuzuri, María-Luz Couce
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Journal of Clinical Medicine
Subjects:
critically ill newborn
genomic sequencing
genetic diagnosis
trio sequencing
Online Access:https://www.mdpi.com/2077-0383/9/8/2362

Internet

https://www.mdpi.com/2077-0383/9/8/2362

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