During the last 4 years (2012-2016) our research team has acquired unique resources to allow efficient bioinformatics systems development. It allowed us to continue the development of Locus Specific DataBases (LSDB) using the Universal Mutation Database (UMD) system with the creation of 20 new LSDBs. All UMD-LSDB hosted on our servers received an average of 990,840 queries/year, have been valorized through >50 publications (22 since 2012) and 1,847 citations. Two of these database have been licensed through the successful BRCA-Share™ public/private partnership with >1,660 registered users and >15,000 queries/month.
In parallel, we also developed, curate and host various patients' registries including the International Dysferlinopathies registry (www.dysferlinregistry.org), the French observatory of patients affected by the FSHMD (www.fshd.fr), the French registry of Marfan and related diseases (restricted access).
We developed two knowledge base systems, the UMD-Predictor® and Human Splicing Finder® (HSF) systems to predict the pathogenicity of mutations. These two systems are today the most efficient worldwide (Salgado et al. 2016, Desmet et al. 2009 - http://umd-predictor.eu; http://www.umd.be/HSF3/).
Because NGS data are difficult to analyze, we developed the Variant Annotation and Filtration Tool (VarAFT) that has been recently released and is already used in diagnostic and research contexts (http://varaft.eu).
Thanks to its international recognition (participation to 4 EU projects and 2 international projects since 2012) and the quality of these various systems/databases, our team has been labelled as a French National Bioinformatics Platform by the French Bioinformatics Institute (IFB) and is now an Elixir partner. It is leading the "Clinical and Bioinformatics" Work Package of the RD-Connect EU-funded project, which is the flagship for rare diseases in Europe.