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."