DiseaseCard: A Web-Based Tool for the Collaborative Integration of Genetic and Medical Information

摘要

The recent advances on genomics and proteomics research bring up a significant grow on the information that is publicly available. However, navigating through genetic and bioinformatics databases can be a too complex and unproductive task for a primary care physician. Moreover, considering the rare genetic diseases field, we verify that the knowledge about a specific disease is commonly disseminated over a small group of experts. The capture, maintenance and sharing of this knowledge over user-friendly interfaces will introduce new insights in the understanding of some rare genetic diseases. In this paper we present DiseaseCard, a web available collaborative service that aims to integrate and disseminate genetic and medical information on rare genetic diseases.