Journal of Biomedical Informatics
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The huge amount of information coming from genomics and proteomics research is expected to give rise to a new clinical practice, where diagnosis and treatments will be supported by information at the molecular level. However, navigating through bioinformatics databases can be a too complex and unproductive task. In this paper we present an information retrieval engine that is being used to gather and join information about rare diseases, from the phenotype to the genotype, in a public web portal – diseasecard.org.