In this study, we employed a closed discovery approach to LBD (literature-based discovery) as a complementary method in diagnostic NGS (next-generation sequencing) data analysis. In our analysis, the starting concept, the patient’s genotype, and the end concept, the patient’s phenotype, are known, and we want to find an intermediate, linking concept, which may help discover and explain the possibly previously unknown gene-phenotype relationships, thus providing us with a novel clinical hypothesis.

Learning Objective 1: After participating in this session, the learner should be better able to:
1. understand how literature-based discovery can be used to help in the interpretation of next-generation sequencing results
2. understand how data from different sources can be integrated in the Neo4j graph database


Dimitar Hristovski (Presenter)
University of Ljubljana

Gaber Bergant, University Clinical Center Ljubljana
Andrej Kastrin, University of Ljubljana
Borut Peterlin, University Clinical Center Ljubljana

Presentation Materials: