Skip to Main content Skip to Navigation
Journal articles

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Abstract : With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. CF and particularly CFTR-RD provide a particular challenge because of many unclassified variants and identical genotypes associated with different phenotypes. Using the Universal Mutation Database (UMD) software we have constructed UMD-CFTR (freely available at the URL: http://www.umd.be/CFTR/), the first comprehensive relational CFTR database that allows an in-depth analysis and annotation of all variations identified in individuals whose CFTR genes have been analyzed extensively. The system has been tested on the molecular data from 757 patients (540 CF and 217 CBAVD) including disease-causing, unclassified, and nonpathogenic alterations (301 different sequence variations) representing 3,973 entries. Tools are provided to assess the pathogenicity of mutations. UMD-CFTR also offers a number of query tools and graphical views providing instant access to the list of mutations, their frequencies, positions and predicted consequences, or correlations between genotypes, haplotypes, and phenotypes. UMD-CFTR offers a way to compile not only disease-causing genotypes but also haplotypes. It will help the CFTR scientific and medical communities to improve sequence variation interpretation, evaluate the putative influence of haplotypes on mutations, and correlate molecular data with phenotypes.
Complete list of metadatas

https://hal-amu.archives-ouvertes.fr/hal-01681834
Contributor : Christophe Beroud <>
Submitted on : Thursday, January 11, 2018 - 6:48:12 PM
Last modification on : Monday, December 2, 2019 - 9:48:01 AM

Links full text

Identifiers

Collections

Citation

Corinne Bareil, Corinne Thèze, Christophe Béroud, Dalil Hamroun, Caroline Guittard, et al.. UMD-CFTR: A database dedicated to CF and CFTR-related disorders. Human Mutation, Wiley, 2010, 31 (9), pp.1011 - 1019. ⟨10.1002/humu.21316⟩. ⟨hal-01681834⟩

Share

Metrics

Record views

157