The major goal of this project is to apply second generation resequencing technology to identify disease causing variants influencing pediatric and adult lung diseases in a collection of two longitudi
Seven missense variants of unknown significance (VUS) from the CFTR2.org database with their respective AM scores and predicted pathogenicity. Variants D923N and M952T are predicted to be pathogenic.
The major goal of this project is to apply second generation resequencing technology to identify disease causing variants influencing pediatric and adult lung diseases in a collection of two longitudi