LOVD v.2.0: the next generation in gene variant databases.


Locus-Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. We developed the Leiden Open-source Variation Database (LOVD) as a platform-independent Web-based LSDB-in-a-Box package. LOVD was designed to be easy to set up and maintain and follows the Human Genome Variation Society (HGVS) recommendations. Here we describe LOVD v.2.0, which adds enhanced flexibility and functionality and has the capacity to store sequence variants in multiple genes per patient. To reduce redundancy, patient and sequence variant data are stored in separate tables. Tables are linked to generate connections between sequence variant data for each gene and every patient. The dynamic structure allows database managers to add custom columns. The database structure supports fast queries and allows storage of sequence variants from high-throughput sequence analysis, as demonstrated by the X-chromosomal Mental Retardation LOVD installation. LOVD contains measures to ensure database security from unauthorized access. Currently, the LOVD Website (http://www.LOVD.nl/) lists 71 public LOVD installations hosting 3,294 gene variant databases with 199,000 variants in 84,000 patients. To promote LSDB standardization and thereby database interoperability, we offer free server space and help to establish an LSDB on our Leiden server.

DOI: 10.1002/humu.21438
Citations per Year

3,317 Citations

Semantic Scholar estimates that this publication has 3,317 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Fokkema2011LOVDVT, title={LOVD v.2.0: the next generation in gene variant databases.}, author={Ivo Fokkema and Peter E. M. Taschner and Gerard C P Schaafsma and Jacopo Celli and Jeroen F. J. Laros and Johan T den Dunnen}, journal={Human mutation}, year={2011}, volume={32 5}, pages={557-63} }