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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Publicat a:Genet Med
Autors principals: Wojcik, Monica H, Zhang, Tian, Ceyhan-Birsoy, Ozge, Genetti, Casie A, Lebo, Matthew S., Yu, Timothy W, Parad, Richard B, Holm, Ingrid A, Rehm, Heidi L, Beggs, Alan H, Green, Robert C, Agrawal, Pankaj B
Format: Artigo
Idioma:Inglês
Publicat: 2021
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Article
Accés en línia: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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