Dataset Information

Enabling semantic queries across federated bioinformatics databases.

ABSTRACT: MOTIVATION:Data integration promises to be one of the main catalysts in enabling new insights to be drawn from the wealth of biological data available publicly. However, the heterogeneity of the different data sources, both at the syntactic and the semantic level, still poses significant challenges for achieving interoperability among biological databases. RESULTS:We introduce an ontology-based federated approach for data integration. We applied this approach to three heterogeneous data stores that span different areas of biological knowledge: (i) Bgee, a gene expression relational database; (ii) Orthologous Matrix (OMA), a Hierarchical Data Format 5 orthology DS; and (iii) UniProtKB, a Resource Description Framework (RDF) store containing protein sequence and functional information. To enable federated queries across these sources, we first defined a new semantic model for gene expression called GenEx. We then show how the relational data in Bgee can be expressed as a virtual RDF graph, instantiating GenEx, through dedicated relational-to-RDF mappings. By applying these mappings, Bgee data are now accessible through a public SPARQL endpoint. Similarly, the materialized RDF data of OMA, expressed in terms of the Orthology ontology, is made available in a public SPARQL endpoint. We identified and formally described intersection points (i.e. virtual links) among the three data sources. These allow performing joint queries across the data stores. Finally, we lay the groundwork to enable nontechnical users to benefit from the integrated data, by providing a natural language template-based search interface.

SUBMITTER: Sima AC

PROVIDER: S-EPMC6836710 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Enabling semantic queries across federated bioinformatics databases.

Sima Ana Claudia AC Mendes de Farias Tarcisio T Zbinden Erich E Anisimova Maria M Gil Manuel M Stockinger Heinz H Stockinger Kurt K Robinson-Rechavi Marc M Dessimoz Christophe C

Database : the journal of biological databases and curation 20190101

<h4>Motivation</h4>Data integration promises to be one of the main catalysts in enabling new insights to be drawn from the wealth of biological data available publicly. However, the heterogeneity of the different data sources, both at the syntactic and the semantic level, still poses significant challenges for achieving interoperability among biological databases.<h4>Results</h4>We introduce an ontology-based federated approach for data integration. We applied this approach to three heterogeneou ...[more]

PMID: 31697362

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Project description:BackgroundOver the past decade, the emergence of several large federated clinical data networks has enabled researchers to access data on millions of patients at dozens of health care organizations. Typically, queries are broadcast to each of the sites in the network, which then return aggregate counts of the number of matching patients. However, because patients can receive care from multiple sites in the network, simply adding the numbers frequently double counts patients. Various methods such as the use of trusted third parties or secure multiparty computation have been proposed to link patient records across sites. However, they either have large trade-offs in accuracy and privacy or are not scalable to large networks.ObjectiveThis study aims to enable accurate estimates of the number of patients matching a federated query while providing strong guarantees on the amount of protected medical information revealed.MethodsWe introduce a novel probabilistic approach to running federated network queries. It combines an algorithm called HyperLogLog with obfuscation in the form of hashing, masking, and homomorphic encryption. It is tunable, in that it allows networks to balance accuracy versus privacy, and it is computationally efficient even for large networks. We built a user-friendly free open-source benchmarking platform to simulate federated queries in large hospital networks. Using this platform, we compare the accuracy, k-anonymity privacy risk (with k=10), and computational runtime of our algorithm with several existing techniques.ResultsIn simulated queries matching 1 to 100 million patients in a 100-hospital network, our method was significantly more accurate than adding aggregate counts while maintaining k-anonymity. On average, it required a total of 12 kilobytes of data to be sent to the network hub and added only 5 milliseconds to the overall federated query runtime. This was orders of magnitude better than other approaches, which guaranteed the exact answer.ConclusionsUsing our method, it is possible to run highly accurate federated queries of clinical data repositories that both protect patient privacy and scale to large networks.

Project description:BackgroundThe ability to query many independent biological databases using a common ontology-based semantic model would facilitate deeper integration and more effective utilization of these diverse and rapidly growing resources. Despite ongoing work moving toward shared data formats and linked identifiers, significant problems persist in semantic data integration in order to establish shared identity and shared meaning across heterogeneous biomedical data sources.ResultsWe present five processes for semantic data integration that, when applied collectively, solve seven key problems. These processes include making explicit the differences between biomedical concepts and database records, aggregating sets of identifiers denoting the same biomedical concepts across data sources, and using declaratively represented forward-chaining rules to take information that is variably represented in source databases and integrating it into a consistent biomedical representation. We demonstrate these processes and solutions by presenting KaBOB (the Knowledge Base Of Biomedicine), a knowledge base of semantically integrated data from 18 prominent biomedical databases using common representations grounded in Open Biomedical Ontologies. An instance of KaBOB with data about humans and seven major model organisms can be built using on the order of 500 million RDF triples. All source code for building KaBOB is available under an open-source license.ConclusionsKaBOB is an integrated knowledge base of biomedical data representationally based in prominent, actively maintained Open Biomedical Ontologies, thus enabling queries of the underlying data in terms of biomedical concepts (e.g., genes and gene products, interactions and processes) rather than features of source-specific data schemas or file formats. KaBOB resolves many of the issues that routinely plague biomedical researchers intending to work with data from multiple data sources and provides a platform for ongoing data integration and development and for formal reasoning over a wealth of integrated biomedical data.

Dataset Information

Enabling semantic queries across federated bioinformatics databases.

Publications

Enabling semantic queries across federated bioinformatics databases.

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