Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools

Abstract excerpt

Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants through in 8 silico tools. Two guidelines were followed to deduce the pathogenicity. A total of 169 CF patients had...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cystic Fibrosis Research Advances
• Share to Neonatal Respiratory Health Research
• Share to Tracheal and airway disorders