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Article

Validation and discovery of genotype-phenotype associations in chronic diseases using linked data.

Studies in health technology and informatics - 1 Jan 2012

Pathak Jyotishman, Kiefer Richard, Freimuth Robert, Chute Christopher

Abstract excerpt

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...

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PMID: 22874251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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