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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Bibliografiset tiedot
Julkaisussa:NPJ Genom Med
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
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Article
Linkit: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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