Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort stu...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:NPJ Genom Med
Κύριοι συγγραφείς: Farnaes, Lauge, Hildreth, Amber, Sweeney, Nathaly M., Clark, Michelle M., Chowdhury, Shimul, Nahas, Shareef, Cakici, Julie A., Benson, Wendy, Kaplan, Robert H., Kronick, Richard, Bainbridge, Matthew N., Friedman, Jennifer, Gold, Jeffrey J., Ding, Yan, Veeraraghavan, Narayanan, Dimmock, David, Kingsmore, Stephen F.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group UK 2018
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5884823/
https://ncbi.nlm.nih.gov/pubmed/29644095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0049-4
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