Mikel Egaña Aranguren

Using OWL to model biological knowledge

Much has been written of the facilities for ontology building and reasoning offered for ontologies expressed in the Web Ontology Language (OWL). Less has been written about how the modelling requirements of different areas of interest are met by OWL-DLs underlying model of the world. In this paper we use the disciplines of biology and bioinformatics to reveal the requirements of a community that both needs and uses ontologies. We use a case study of building an ontology of protein phosphatases to show how OWL-DLs model can capture a large proportion of the communitys needs. We demonstrate how Ontology Design Patterns (ODPs) can extend inherent limitations of this model. We give examples of relationships between more than two instances; lists and exceptions, and conclude by illustrating what OWL-DL and its underlying description logic either cannot handle in theory or because of lack of implementation. Finally, we present a research agenda that, if fulfilled, would help ensure OWLs wider take up in the life science community.

Ontology Design Patterns for bio-ontologies: a case study on the Cell Cycle Ontology

BackgroundBio-ontologies are key elements of knowledge management in bioinformatics. Rich and rigorous bio-ontologies should represent biological knowledge with high fidelity and robustness. The richness in bio-ontologies is a prior condition for diverse and efficient reasoning, and hence querying and hypothesis validation. Rigour allows a more consistent maintenance. Modelling such bio-ontologies is, however, a difficult task for bio-ontologists, because the necessary richness and rigour is difficult to achieve without extensive training.ResultsAnalogous to design patterns in software engineering, Ontology Design Patterns are solutions to typical modelling problems that bio-ontologists can use when building bio-ontologies. They offer a means of creating rich and rigorous bio-ontologies with reduced effort. The concept of Ontology Design Patterns is described and documentation and application methodologies for Ontology Design Patterns are presented. Some real-world use cases of Ontology Design Patterns are provided and tested in the Cell Cycle Ontology. Ontology Design Patterns, including those tested in the Cell Cycle Ontology, can be explored in the Ontology Design Patterns public catalogue that has been created based on the documentation system presented (http://odps.sourceforge.net/).ConclusionsOntology Design Patterns provide a method for rich and rigorous modelling in bio-ontologies. They also offer advantages at different development levels (such as design, implementation and communication) enabling, if used, a more modular, well-founded and richer representation of the biological knowledge. This representation will produce a more efficient knowledge management in the long term.

Understanding and using the meaning of statements in a bio-ontology: recasting the Gene Ontology in OWL

The bio-ontology community falls into two camps: first we have biology domain experts, who actually hold the knowledge we wish to capture in ontologies; second, we have ontology specialists, who hold knowledge about techniques and best practice on ontology development. In the bio-ontology domain, these two camps have often come into conflict, especially where pragmatism comes into conflict with perceived best practice. One of these areas is the insistence of computer scientists on a well-defined semantic basis for the Knowledge Representation language being used. In this article, we will first describe why this community is so insistent. Second, we will illustrate this by examining the semantics of the Web Ontology Language and the semantics placed on the Directed Acyclic Graph as used by the Gene Ontology. Finally we will reconcile the two representations, including the broader Open Biomedical Ontologies format. The ability to exchange between the two representations means that we can capitalise on the features of both languages. Such utility can only arise by the understanding of the semantics of the languages being used. By this illustration of the usefulness of a clear, well-defined language semantics, we wish to promote a wider understanding of the computer science perspective amongst potential users within the biological community.

Quantitative evaluation of bias in PCR amplification and next-generation sequencing derived from metabarcoding samples

Unbiased identification of organisms by PCR reactions using universal primers followed by DNA sequencing assumes positive amplification. We used six universal loci spanning 48 plant species and quantified the bias at each step of the identification process from end point PCR to next-generation sequencing. End point amplification was significantly different for single loci and between species. Quantitative PCR revealed that Cq threshold for various loci, even within a single DNA extraction, showed 2,000-fold differences in DNA quantity after amplification. Next-generation sequencing (NGS) experiments in nine species showed significant biases towards species and specific loci using adaptor-specific primers. NGS sequencing bias may be predicted to some extent by the Cq values of qPCR amplification.

Evaluation of the OQuaRE framework for ontology quality

The increasing importance of ontologies has resulted in the development of a large number of ontologies in both coordinated and non-coordinated efforts. The number and complexity of such ontologies make hard to ontology and tool developers to select which ontologies to use and reuse. So far, there are no mechanism for making such decisions in an informed manner. Consequently, methods for evaluating ontology quality are required. OQuaRE is a method for ontology quality evaluation which adapts the SQuaRE standard for software product quality to ontologies. OQuaRE has been applied to identify the strengths and weaknesses of different ontologies but, so far, this framework has not been evaluated itself. Therefore, in this paper we present the evaluation of OQuaRE, performed by an international panel of experts in ontology engineering. The results include the positive and negative aspects of the current version of OQuaRE, the completeness and utility of the quality metrics included in OQuaRE and the comparison between the results of the manual evaluations done by the experts and the ones obtained by a software implementation of OQuaRE.

Automatically exposing OpenLifeData via SADI semantic Web Services

BackgroundTwo distinct trends are emerging with respect to how data is shared, collected, and analyzed within the bioinformatics community. First, Linked Data, exposed as SPARQL endpoints, promises to make data easier to collect and integrate by moving towards the harmonization of data syntax, descriptive vocabularies, and identifiers, as well as providing a standardized mechanism for data access. Second, Web Services, often linked together into workflows, normalize data access and create transparent, reproducible scientific methodologies that can, in principle, be re-used and customized to suit new scientific questions. Constructing queries that traverse semantically-rich Linked Data requires substantial expertise, yet traditional RESTful or SOAP Web Services cannot adequately describe the content of a SPARQL endpoint. We propose that content-driven Semantic Web Services can enable facile discovery of Linked Data, independent of their location.ResultsWe use a well-curated Linked Dataset - OpenLifeData - and utilize its descriptive metadata to automatically configure a series of more than 22,000 Semantic Web Services that expose all of its content via the SADI set of design principles. The OpenLifeData SADI services are discoverable via queries to the SHARE registry and easy to integrate into new or existing bioinformatics workflows and analytical pipelines. We demonstrate the utility of this system through comparison of Web Service-mediated data access with traditional SPARQL, and note that this approach not only simplifies data retrieval, but simultaneously provides protection against resource-intensive queries.ConclusionsWe show, through a variety of different clients and examples of varying complexity, that data from the myriad OpenLifeData can be recovered without any need for prior-knowledge of the content or structure of the SPARQL endpoints. We also demonstrate that, via clients such as SHARE, the complexity of federated SPARQL queries is dramatically reduced.

Enhanced reproducibility of SADI web service workflows with Galaxy and Docker.

BackgroundSemantic Web technologies have been widely applied in the life sciences, for example by data providers such as OpenLifeData and through web services frameworks such as SADI. The recently reported OpenLifeData2SADI project offers access to the vast OpenLifeData data store through SADI services.FindingsThis article describes how to merge data retrieved from OpenLifeData2SADI with other SADI services using the Galaxy bioinformatics analysis platform, thus making this semantic data more amenable to complex analyses. This is demonstrated using a working example, which is made distributable and reproducible through a Docker image that includes SADI tools, along with the data and workflows that constitute the demonstration.ConclusionsThe combination of Galaxy and Docker offers a solution for faithfully reproducing and sharing complex data retrieval and analysis workflows based on the SADI Semantic web service design patterns.

Semantic integration of information about orthologs and diseases: The OGO system

Semantic Web technologies like RDF and OWL are currently applied in life sciences to improve knowledge management by integrating disparate information. Many of the systems that perform such task, however, only offer a SPARQL query interface, which is difficult to use for life scientists. We present the OGO system, which consists of a knowledge base that integrates information of orthologous sequences and genetic diseases, providing an easy to use ontology-constrain driven query interface. Such interface allows the users to define SPARQL queries through a graphical process, therefore not requiring SPARQL expertise.

Special issue on Linked Data for Health Care and the Life Sciences

Health Care and Life Sciences (HCLS) have long been a test-bed for the standards proposed by the W3C to build the Semantic Web1: since HCLS is descriptive by nature and its descriptions have traditionally been produced according to ad-hoc schemas in isolated resources, HCLS offers an ideal use case for technologies like RDF2, SPARQL3 and OWL4 [1,4]. This “marriage” of the HCLS domain with semantic technologies has resulted in a collection of resources that can be regarded as an HCLS-focused working implementation of the idea of the Semantic Web: the socalled Life Sciences Semantic Web (LSSW). As part of the process of implementing the LSSW, the HCLS community has adopted the Linked Data practices to publish information in a machine-friendly and linkable fashion [3], as a “down-to-earth” version of a prospective fully-fledged Semantic Web. This has resulted in members of the HCLS community, like the W3C HCLS Interest Group5, considerably contributing to the Linked Open Data (LOD) endeavour, with datasets like Bio2RDF [2] and Linked Open Drug Data (LODD) [5]. As the LOD network grows, producers and consumers alike are facing new challenges regarding interoperable vocabularies, filtering, graphical interfaces,

Executing SADI services in Galaxy.

BackgroundIn recent years Galaxy has become a popular workflow management system in bioinformatics, due to its ease of installation, use and extension. The availability of Semantic Web-oriented tools in Galaxy, however, is limited. This is also the case for Semantic Web Services such as those provided by the SADI project, i.e. services that consume and produce RDF. Here we present SADI-Galaxy, a tool generator that deploys selected SADI Services as typical Galaxy tools.ResultsSADI-Galaxy is a Galaxy tool generator: through SADI-Galaxy, any SADI-compliant service becomes a Galaxy tool that can participate in other out-standing features of Galaxy such as data storage, history, workflow creation, and publication. Galaxy can also be used to execute and combine SADI services as it does with other Galaxy tools. Finally, we have semi-automated the packing and unpacking of data into RDF such that other Galaxy tools can easily be combined with SADI services, plugging the rich SADI Semantic Web Service environment into the popular Galaxy ecosystem.ConclusionsSADI-Galaxy bridges the gap between Galaxy, an easy to use but “static” workflow system with a wide user-base, and SADI, a sophisticated, semantic, discovery-based framework for Web Services, thus benefiting both user communities.