Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS improved from 3.7% to 25.2% following the implementatio...

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Detalles Bibliográficos
Autores principales: Sicko, Robert J., Stevens, Colleen F., Hughes, Erin E., Leisner, Melissa, Ling, Helen, Saavedra-Matiz, Carlos A., Caggana, Michele, Kay, Denise M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628990/
https://www.ncbi.nlm.nih.gov/pubmed/34842611
http://dx.doi.org/10.3390/ijns7040073

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