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Discordant Results Between Conventional Newborn Screening and Genomic Sequencing in the BabySeq Project
PURPOSE: Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized neonates to receive conventional NBS or NBS plus exome sequencing (ES) capable of detecting sequence variants that may a...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genet Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8263473/ https://ncbi.nlm.nih.gov/pubmed/33772220 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01146-5 |
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