Ontology highlight
ABSTRACT:
SUBMITTER: Trujillano D
PROVIDER: S-EPMC4585447 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Trujillano Daniel D Weiss Maximilian E R ME Köster Julia J Papachristos Efstathios B EB Werber Martin M Kandaswamy Krishna Kumar KK Marais Anett A Eichler Sabrina S Creed Jenny J Baysal Erol E Jaber Iqbal Yousuf IY Mehaney Dina Ahmed DA Farra Chantal C Rolfs Arndt A
Molecular genetics & genomic medicine 20150416 5
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq™ CFTR panel. The DNA libraries were pooled, ba ...[more]