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

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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Bibliographic Details
Main Authors: Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Neonatal Screening
Subjects:
cystic fibrosis (CF)
next-generation sequencing (NGS)
newborn screening (NBS)
IRT-DNA-SEQ algorithm
Online Access:https://www.mdpi.com/2409-515X/7/4/73

Internet

https://www.mdpi.com/2409-515X/7/4/73

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