Using literature-based discovery to identify disease candidate genes

Int J Med Inform. 2005 Mar;74(2-4):289-98. doi: 10.1016/j.ijmedinf.2004.04.024.


We present BITOLA, an interactive literature-based biomedical discovery support system. The goal of this system is to discover new, potentially meaningful relations between a given starting concept of interest and other concepts, by mining the bibliographic database MEDLINE. To make the system more suitable for disease candidate gene discovery and to decrease the number of candidate relations, we integrate background knowledge about the chromosomal location of the starting disease as well as the chromosomal location of the candidate genes from resources such as LocusLink and Human Genome Organization (HUGO). BITOLA can also be used as an alternative way of searching the MEDLINE database. The system is available at

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Algorithms
  • Chromosome Mapping
  • Databases, Factual*
  • Genetic Predisposition to Disease*
  • Humans
  • Medical Subject Headings