Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Kyle A BeauchampKatherine A Johansen TaberPeter V GraumanLindsay SpurkaJeraldine Lim-HarashimaAshley SvensonJames D GoldbergDale Muzzey

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Modern NGS and variant interpretation enable accurate sequencing-based CF screening. Limiting screening to 23 variants does not improve analytical validity, clinical validity, or clinical utility, but does fail to detect approximately 30% (18/58) of ARCs.

Keyphrases

cystic fibrosis
single cell
pseudomonas aeruginosa
copy number
lung function
dna methylation
liquid chromatography