GenEx_ontology

GenEx_ontology integrates semantic representations to enable federated semantic queries across heterogeneous biological databases for gene expression analysis.


Key Features:

  • Ontology-Based Federated Approach: Uses an ontology-driven framework to integrate heterogeneous data stores and address syntactic and semantic heterogeneity.
  • Semantic Model for Gene Expression (GenEx): Provides a semantic model tailored to represent gene expression consistently across platforms.
  • Integration of Diverse Data Sources: Integrates Bgee (relational gene expression database), OMA (Orthologous Matrix in HDF5), and UniProtKB (RDF protein sequence and functional information).
  • Relational-to-RDF Mappings and Virtual RDF Graphs: Transforms Bgee relational data into a virtual RDF graph instantiating the GenEx model and accessible via SPARQL.
  • Materialized RDF for OMA: Expresses OMA data using the Orthology ontology as materialized RDF available through a SPARQL endpoint.
  • Virtual Links for Federated Queries: Identifies and formally describes virtual links among integrated sources to enable joint federated queries.

Scientific Applications:

  • Federated Querying: Enables complex SPARQL queries that span Bgee, OMA, and UniProtKB to combine gene expression, orthology, and protein functional data.
  • Gene Expression and Functional Insight: Supports deriving insights into gene expression patterns and their functional implications across organisms.

Methodology:

Relational-to-RDF mappings create a virtual RDF graph for Bgee instantiating the GenEx model and exposed via a SPARQL endpoint; OMA data are expressed with the Orthology ontology and materialized as RDF served through a SPARQL endpoint; virtual links among sources are identified and formally described to enable joint queries.

Topics

Details

Added:
1/14/2020
Last Updated:
12/3/2020

Operations

Publications

Sima AC, Mendes de Farias T, Zbinden E, Anisimova M, Gil M, Stockinger H, Stockinger K, Robinson-Rechavi M, Dessimoz C. Enabling semantic queries across federated bioinformatics databases. Database. 2019;2019. doi:10.1093/database/baz106. PMID:31697362. PMCID:PMC6836710.

PMID: 31697362
PMCID: PMC6836710
Funding: - Swiss National Research Programme 75 ‘Big Data’: 167149 - Swiss National Science Foundation: 150654