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Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Human mutation - 1 Feb 2016

Hughes Erin E, Stevens Colleen F, Saavedra-Matiz Carlos A, Tavakoli Norma P, Krein Lea M, Parker April, Zhang Zhen, Maloney Breanne, Vogel Beth, DeCelie-Germana Joan, Kier Catherine, Anbar Ran D, Berdella Maria N, Comber Paul G, Dozor Allen J, Goetz Danielle M, Guida Louis, Kattan Meyer, Ting Andrew, Voter Karen Z, van Roey Patrick, Caggana Michele, Kay Denise M

Abstract excerpt

Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diverse NYS CF population. The study included 439 infants with CF identified via newborn screening (NBS) from 2002 to 2012. All had been screened using the Abbott...

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PMID: 26538069
DOI: 10.1002/humu.22927

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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