The CFTR-NGS variants catalogue is a patient-related database integrating sequence variations, genotypes and phenotypes, extending the CFTR-France database to all variants identified by high throughput approaches and including numerous deep-intronic variants.

The specificities of CFTR-NGS catalogue are to collect and to annotate all the variants (disease-causing, non disease-causing and variants of unknown clinical significance) that have been identified by NGS approaches of whole CFTR locus sequencing, in order to provide specific curated analytical data.
Patients includes:

• Patients affected with cystic fibrosis (CF)
• Patients presenting milder phenotypes named CFTR-related disorders (CFTR-RD)
• Patients with CF suspicion or inconclusive diagnosis
• Asymptomatic individuals like healthy carriers carrying one disease-causing variation or individuals without any disease-causing variant.

The catalogue includes phenotypes of these individuals and annotations for all variants identified in the proccess including the allele frequency of healthy vs. patients in our population of sequenced individuals, relevant quality criteria and specific annotations like resulting variant status (artefacts, repeats), Sanger sequencing or functional assays -minigenes-).
CFTR-NGS catalogue is meant to be a source of information on rare CFTR variants, regularly updated and to contribute to a better knowledge on their clinical significance.

Soon: the catalogue will allow direct submission

Coordinating Team

• Directors of the project: Dr. Anne BERGOUGNOUX and Dr. Caroline RAYNAL
• Software developers: Dr. Corinne BAREIL and Dr. Souphatta SASORITH
• Data curators: Dr. Souphatta SASORITH, Dr. Corinne BAREIL, Dr. Anne BERGOUGNOUX and Dr. Caroline RAYNAL

The coordinating team in Montpellier assumes the following tasks:

• To collect and curate data sent by the laboratories,
• To create appropriate bioinformatics tools for storage, analysis and retrieval,
• To implement the database infrastructure,
• To retrieve, on request, all data on a variant identified in problematic diagnosis situations e.g. fetal suspicion of CF, genetic counseling for couples [data restricted to the French network of diagnostic laboratories],

Board of Collaborators

The Board of Collaborators includes the laboratories who accepted to contribute and share genetic or clinical data and to bring their experience and expertise. Its task is to contribute and take decisions about future developments and orientations of the database, research projects and collaborative works to solve difficulties in the interpretation of CFTR genetic variations.

Database curation

The CFTR-NGS catalogue was created and is maintained at Montpellier University by Corinne BAREIL, Souphatta SASORITH, Anne BERGOUGNOUX and Caroline RAYNAL [IURC, Institut Universitaire de Recherche Clinique, Inserm U827].
The curation of the database is funded by "Vaincre la Mucoviscidose".
The conception of the software and the bioinformatics management of the database are not funded by external grants.

CFTR-NGS catalogue constitutes the intellectual property of the director and curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright and database right infringement with possible ensuing litigation. Copyright © 2017. All rights reserved. For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of March 11 (1996) on the legal protection of databases.

The public information provided by CFTR-NGS catalogue is for scientific purposes only, not for clinical usage. Whilst CFTR-NGS catalogue exercises all reasonable care to ensure that the database and data contained therein are of high quality, it makes no warranty, expressed or implied, as to the accuracy or completeness thereof or that this database or the data contained therein, is fit for a particular purpose such as the diagnosis, genetic counseling and treatment of patients. The Directors, Curators and Collaborators cannot be held responsible for any consequences arising out of any inaccuracies, omissions or misusages.

Citing CFTR-France:

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. PMID: 28603918

Email

Corinne BAREIL or Souphatta SASORITH

Postal address

Molecular Genetic Laboratory for rare diseases and EA7402
IURC (Institut Universitaire de Recherche Clinique)
640 avenue du Doyen Gaston Giraud
34093 MONTPELLIER
FRANCE