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

• Main Authors: Robert J. Sicko (Author), Colleen F. Stevens (Author), Erin E. Hughes (Author), Melissa Leisner (Author), Helen Ling (Author), Carlos A. Saavedra-Matiz (Author), Michele Caggana (Author), Denise M. Kay (Author)
• פורמט: ספר
• יצא לאור: MDPI AG, 2021-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...