Validation and discovery of genotype-phenotype associations in chronic diseases using linked data Article Conference Paper uri icon


MeSH Major

  • Cardiovascular Diseases
  • Data Mining
  • Decision Support Techniques
  • Electronic Health Records


  • 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.

publication date

  • December 2012



  • Conference Paper


Digital Object Identifier (DOI)

  • 10.3233/978-1-61499-101-4-549

PubMed ID

  • 22874251

Additional Document Info

start page

  • 549

end page

  • 53


  • 180