Semantically enabling a genome-wide association study database

July 17th, 2013 | Posted by rkh7 in News | Uncategorized

Semantically enabling a genome-wide association study database: a publication using data from GWAS Central describing a methodology for applying phenotype annotations to a comprehensive genome-wide association dataset and for ensuring compatibility with the Semantic Web was published December 2012.

The provision of GWAS nanopublications enables a new dimension for exploring GWAS data, by way of intrinsic links to related data resources within the Linked Data web. The value of such annotation and integration will grow as more biomedical resources adopt the standards of the Semantic Web.

The GWAS Central phenotype annotations can be queried and viewed from the web interface at:

The GWAS Central SPARQL end-point can be accessed at:

The human-mouse comparative phenotype pipeline described in this paper, named “get human and mouse phenotypes for a gene”, is available from myExperiment at:


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