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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2021
Pynciau:
Article
Mynediad Ar-lein: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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