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FINDbase


NAR Molecular Biology Database Collection entry number 1020
Patrinos, George; Papadopoulos, Petros; Viennas, Emmanouil; Gkantouna, Vassiliki; Pavlidis, Cristiana; Bartsakoulia, Marina; Ioannou, Zafeiria-Marina; Ratbi, Ilham; Sefiani, Abdelaziz; Tsaknakis, John; Poulas, Konstantinos; Tzimas, Giannis
1Erasmus MC, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands
2 McGill University, Montreal Children's Hospital Research Institute, Montreal, Canada
3 Fox Chase Cancer Center, Human Genetics Division, Philadelphia, PA, USA
4 Centre for Human Genetics, Catholic University of Leuven, Campus Gasthuisberg, Leuven, Belgium
5 Dipartimento di Genetica, Biologia, Biochimica, Università di Torino, Torino, Italy
6 Charles University, University Hospital Motol and 2nd School of Medicine, Institute of Biology and Medical Genetics, Department of Molecular Genetics and National Cystic Fibrosis Centre, Prague, Czech Republic
7 Asclepion Genetics, Lausanne, Switzerland

Database Description

FINDbase (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Database access is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a “database-journal”.

Recent Developments

Data warehousing has been implemented and an online submission tool will soon be available for direct mutation frequency data submission

Acknowledgements

Most of our work has been supported by the Ithanet FP6 Collaboration Action (026539), the EuroGenTest FP6 Network of Excellence (512148), corporate funding from Asclepion Genetics (Switzerland) to GPP, by VZFNM 00064203(6112), Snip2Chip and Micro2DNA projects to MMJr and by a Fondazione per la ricerca sulla Fibrosi Cistica-Onlus (Italy) project (FFC#7-2004) to FR. We particularly thank Prof. Richard Cotton and the HGVS for their continuous encouragement.

References

1. van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP. (2007). FINDbase: A relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res. 35, in press.


Go to the abstract in the NAR 2014 Database Issue.
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