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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Pediatr Crit Care Med
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2019
विषय:
Article
ऑनलाइन पहुंच: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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