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Updated: Aug 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Using literature-based discovery to identify disease candidate genes
Dimitar Hristovski1, Borut Peterlin, Joyce A Mitchell
1Institute of Biomedical Informatics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2/2 1104 Ljubljana, Slovenia. dimitar.hristovski@mf.uni-lj.si
Abstract:
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 http://www.mf.uni-lj.si/bitola/.
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