Applying ontologies and exploring nanopublishing in a genome-wide association study database

Abstract

The genome-wide association study (GWAS) database - GWAS Central (http://www.gwascentral.org) - allows the sophisticated interrogation and comparison of summary-level GWAS data. Here we present the application of ontologies within GWAS Central for the description and standardisation of phenotypic observations and their use in inferring disease phenotypes. For orthologous genes, our cross-species phenotype comparison pipeline allows for comparison of phenotypes defined using alternative mammalian phenotype ontologies. Building on the existing rich semantic phenotype annotation layer, we are currently involved in an effort to publish a core subset of the data as RDF nanopublications.

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