An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in intensive care units (ICUs). Gravely ill infants were...

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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Dimmock, David P., Clark, Michelle M., Gaughran, Mary, Cakici, Julie A., Caylor, Sara A., Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M., Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S., Kingsmore, Stephen F.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7675004/
https://ncbi.nlm.nih.gov/pubmed/33157007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.10.003
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