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Updated: May 19, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Validation and discovery of genotype-phenotype associations in chronic diseases using linked data
Jyotishman Pathak1, Richard Kiefer, Robert Freimuth
1Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. pathak.jyotishman@mayo.edu
Abstract:
This study investigates federated SPARQL queries over Linked Open Data (LOD) in the Semantic Web to validate existing, and potentially discover new genotype-phenotype associations from public datasets. In particular, we report our preliminary findings for identifying such associations for commonly occurring chronic diseases using the Online Mendelian Inheritance in Man (OMIM) and Database for SNPs (dbSNP) within the LOD knowledgebase and compare them with Gene Wiki for coverage and completeness. Our results indicate that Semantic Web technologies can play an important role for in-silico identification of novel disease-gene-SNP associations, although additional verification is required before such information can be applied and used effectively.
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