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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genet Med
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2021
Gaiak:
Article
Sarrera elektronikoa: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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