Integration of Variome Data Through a Link Discovery System

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 Human Genome Project efforts generated an unprecedented expansion in the availability of the human genome sequences"   Revolution in the biomedical research fields"   New investigation scenarios"   Synergy between genomics and medicine!   Study relations between genotypes and phenotypes!  The need for new software tools arises"

 Genotype-to-Phenotype Databases: A Holistic Solution Project"   Problem"  Huge amount of biological databases"  Specificity and heterogeneity: no daily usage"   Solution"  Unique views over various knowledge sources"  Seamless querying and navigation!

 Ease information publication process"  Increase data availability!  Exponential growth in the number of online available resources"   Novel and distinct tools are required"   Support for constantly growing datasets"   Efficient integration of distributed resources"

 DiseaseCard portal is a public information system that integrates information from distributed and heterogeneous public medical and genomic databases. The engine gathers information in real-time and presents it through a familiar visual paradigm."   Key features:"  Automatic database updates using link discovery strategies"   Integrate data gathered from both large databases (Ensembl, NCBI, Orphanet, PharmGKB, UniProt, PubMed, KEGG) and small applications such as specific LSDBs (LOVD, UMD)"  Centralized entry point to the entire biomedical information landscape"   Complete genotype to phenotype integration in a single interface"  No data replication and transparent access"  Original application inclusion"   Maintain due credit in scientific discoveries"   Enable the development of application extensions!

 GEN2PHEN is funded by the European Communityʼs Seventh Framework Programme (FP7/2007-2013) under grant agreement 200754."


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