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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha: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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