Translational research combining orthologous genes and human diseases with the OGOLOD dataset

OGOLOD is a Linked Open Data dataset derived from different biomedical resources by an automated pipeline, using a tailored ontology as a scaffold. The key contribution of OGOLOD is that it links, in new RDF triples, genetic human diseases and orthologous genes, paving the way for a more efficient translational biomedical research exploiting the Linked Open Data cloud

Publishing Orthology and Diseases Information in the Linked Open Data Cloud

The Linked Data initiative offers a straight method to publish structured data in the World Wide Web and link it to other data, resulting in a world wide network of semantically codified data known as the Linked Open Data cloud. The size of the Linked Open Data cloud, i.e. the amount of data published using Linked Data principles, is growing exponentially, including life sciences data. However, key information for biological research is still missing in the Linked Open Data cloud. For example, the relation between orthologs genes and genetic diseases is absent, even though such information can be used for hypothesis generation regarding human diseases. The OGOLOD system, an extension of the OGO Knowledge Base, publishes orthologs/diseases information using Linked Data. This gives the scientists the ability to query the structured information in connection with other Linked Data and to discover new information related to orthologs and human diseases in the cloud

OPPL-Galaxy, a Galaxy tool for enhancing ontology exploitation as part of bioinformatics workflows

Biomedical ontologies are key elements for building up the Life Sciences Semantic Web. Reusing and building biomedical ontologies requires flexible and versatile tools to manipulate them efficiently, in particular for enriching their axiomatic content. The Ontology Pre Processor Language (OPPL) is an OWL-based language for automating the changes to be performed in an ontology. OPPL augments the ontologists’ toolbox by providing a more efficient, and less error-prone, mechanism for enriching a biomedical ontology than that obtained by a manual treatment. Results We present OPPL-Galaxy, a wrapper for using OPPL within Galaxy. The functionality delivered by OPPL (i.e. automated ontology manipulation) can be combined with the tools and workflows devised within the Galaxy framework, resulting in an enhancement of OPPL. Use cases are provided in order to demonstrate OPPL-Galaxy’s capability for enriching, modifying and querying biomedical ontologies. Conclusions Coupling OPPL-Galaxy with other bioinformatics tools of the Galaxy framework results in a system that is more than the sum of its parts. OPPL-Galaxy opens a new dimension of analyses and exploitation of biomedical ontologies, including automated reasoning, paving the way towards advanced biological data analyses

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

<p>Abstract</p> <p>Background</p> <p>Bio-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.</p> <p>Results</p> <p>Analogous 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 (<url>http://odps.sourceforge.net/</url>).</p> <p>Conclusions</p> <p>Ontology 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.</p

Role and application of ontology design patterns in bio-ontologies

Knowledge Representation (KR) languages such as OWL (Web Ontology Languge), having precise semantics, offer the possibility of computationally exploiting biological knowledge, by codifying it in the axioms of bio-ontologies widely used in life sciences for knowledge management. Knowledge is, however, often represented in bio-ontologies without following rigorous principles of modelling and the resulting bio-ontologies are axiomatically lean. Therefore knowledge cannot be computationally exploited for integrity checking, hypothesis generation, consistency maintenance, integration, or rich querying. A solution that can contribute to the rigorous modelling and axiomatic richness of bio-ontologies is is the use of Ontology Design Patterns (ODPs). ODPs are thoroughly documented and efficient solutions for recurrent problems encountered when building ontologies. Therefore ODPs act as guides on how to use KR languages for creating ontology fragments that have well known advantages and side effects. In order forr ODPs to be efficiently accessed by bio-ontologists, an online catalogue of ODPs has been created, describing different ODPs using a consisistent documentation schema. Such ODPs, apart from being accessed, can be applied automatatically with the Ontology Preprocessor Language (OPPL), as OPPL makes it possible to encapsulate ODPs in scripts to be executed on OWL ontologies, making the application of ODPs replicable and flexible. The infrastructure for applying ODPs formed by the catalogue amd OPPL has been used for applying ODPs in bio-ontologies like the Cell Type Ontology. The results of such application have been evaluated to assess the applied ODPs and the chang on ontology quality.EThOS - Electronic Theses Online ServiceGBUnited Kingdo

mikel-egana-aranguren/SADI-Docker-Galaxy: First release

First release so that Zenodo can archive this cod

Executing SADI services in Galaxy

Background: In 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. Results: SADI-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. Conclusions: SADI-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.Mikel Egana Aranguren is funded by the Marie Curie Cofund programme (FP7) of the European Union and the Genomic Resources Group of the University of Basque Country. Alejandro Rodriguez Gonzalez and Mark D. Wilkinson are funded by the Isaac Peral Programme of the CBGP-UPM