Querying Phenotype-Genotype Associations across Multiple Knowledge Bases using Semantic Web Technologies

Oya Deniz Beyan, Aftab Iqbal, Yasar Khan, Athos Antoniades, John Keane, Panagiotis Hasapis, Christos Georgousopoulos, Myrto Ioannidi, Stefan Decker, Ratnesh Sahay

13th IEEE International Conference on BioInformatics and BioEngineering
Conference Paper
Biomedical and genomic data are inherently heterogeneous and their recent proliferation over the Web has demanded innovative querying methods to help domain experts in their clinical and research studies. In this paper we present the use of Semantic Web technologies in querying diverse phenotype-genotype associations for supporting personalized medicine and potentially helping to discover new associations. Our initial results suggest that Semantic Web technologies has competitive advantages in extracting, consolidating and presenting phenotype-genotype associations that resides in various bioinformatics resources. The developed querying method could support researchers and medical professionals in discovering and utilizing information on published associations relating disease, treatment, adverse events and environmental factors to genetic markers from multiple repositories.