Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit

OBJECTIVES: Genetic disorders are a leading contributor to mortality in the neonatal and pediatric intensive care unit (ICU) in the United States. Although individually rare, there are over 6200 single gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome s...

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Udgivet i:Pediatr Crit Care Med
Main Authors: Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6832787/
https://ncbi.nlm.nih.gov/pubmed/31246743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/PCC.0000000000002056
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