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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...
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| Wydane w: | Genet Med |
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| Główni autorzy: | , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2021
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| Hasła przedmiotowe: | |
| Dostęp 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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