Genome Medicine


Open Access Highly Access Database

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

Roland Barriot3,1,2, Jeroen Breckpot4, Bernard Thienpont4,5, Sylvain Brohée1, Steven Van Vooren1, Bert Coessens1, Leon-Charles Tranchevent1, Peter Van Loo4,1,6, Marc Gewillig7, Koenraad Devriendt4 and Yves Moreau1*

Author Affiliations

1 Bioinformatics Group, Department of Electrical Engineering, ESAT-SCD, Katholieke Universiteit Leuven, Kasteelpark Arenberg 10, B-3001 Leuven, Belgium

2 Université de Toulouse, UPS, Laboratoire de Microbiologie et Génétique Moléculaires, 118 route de Narbonne, F-31000 Toulouse, France

3 Centre National de la Recherche Scientifique, LMGM, 118 route de Narbonne, F-31000 Toulouse, France

4 Center for Human Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium

5 Laboratory of Molecular Signalling and Laboratory of Developmental Genetics and Imprinting, Babraham Research Campus, Cambridge CB22 3AT, UK

6 Department of Molecular and Developmental Genetics, VIB, Herestraat 49, box 602, B-3000 Leuven, Belgium

7 Department of Pediatric Cardiology, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium

For all author emails, please log on.

Genome Medicine 2010, 2:16 doi:10.1186/gm137

Published: 1 March 2010

Abstract

Background

How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question.

Description

We built on the recent advances in Wiki-based technologies to develop a collaborative knowledge base and gene prioritization portal aimed at mapping genes and genomic regions, and untangling their relations with corresponding human phenotypes, congenital heart defects (CHDs). This portal is not only an evolving community repository of current knowledge on the genetic basis of CHDs, but also a collaborative environment for the study of candidate genes potentially implicated in CHDs - in particular by integrating recent strategies for the statistical prioritization of candidate genes. It thus serves and connects the broad community that is facing CHDs, ranging from the pediatric cardiologist and clinical geneticist to the basic investigator of cardiogenesis.

Conclusions

This study describes the first specialized portal to collaboratively annotate and analyze gene-phenotype networks. Of broad interest to the biological community, we argue that such portals will play a significant role in systems biology studies of numerous complex biological processes.

CHDWiki is accessible at http://www.esat.kuleuven.be/~bioiuser/chdwiki webcite