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Article

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

2 Nov 2021

Abstract excerpt

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 implementation of a three-tier IRT-DNA-SEQ approach using commercially available tests. Here we describe a modification of the...

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PMID: 34842611
DOI: 10.3390/ijns7040073

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