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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
OBJECTIVE: To assess the performance of a standardized age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening (NBS), and compare it with the results from other contemporary methods. STUDY DESIGN: The North Carolina Newborn Exome Sequencing for U...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Pediatr |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6535354/ https://ncbi.nlm.nih.gov/pubmed/30851990 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2018.12.027 |
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