Integrating medical and genomic data: a successful example for rare diseases

Stud Health Technol Inform. 2006:124:125-30.

Abstract

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. In this paper we present diseasecard, a web portal for rare disease that provides transparently to the user a virtually integration of distributed and heterogeneous information.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology
  • Genomics*
  • Humans
  • Information Storage and Retrieval
  • Rare Diseases / genetics*