CyFidb: A Molecular Atlas for Cystic Fibrosis

Abstract

Background: Cystic fibrosis (CF) is a disease triggered by more than 2,100 variants in a single gene encoding for the CF Transmembrane Conductance Regulator (CFTR) protein, which is expressed in epithelial cells, where it functions an anion channel. A new era of high-throughput technologies ('omics') enabled the production and exploration of large CF-related datasets with unprecedented detail. However, this knowledge is scattered among different resources thus requiring a significant amount of time and training to collect and exploit. The objective of this work is to build a resource (CyFidb) that concentrates CF-related information in a single repository.

Methods: This tool results from the intense manual curation of 407 scientific articles, including studies with CFTR variants in distinct conditions, drug treatments and cells/tissues.

Results: CyFidb is divided into three levels of information: protein-protein interactions, gene expression and functional studies, from which it is possible to search and extract information.

Conclusions: CyFidb is an open-access resource (https://cyfidb.di.fc.ul.pt) designed to provide continuously updated, curated information on CFTR variants and their associated biological data.

Keywords: Bioinformatics; CFTR; Cystic fibrosis; Database; Systems-biology; repository.