Mikel Egaña

Universidad del País Vasco / Euskal Herriko Unibertsitatea | UPV/EHU · Departamento de Genética, Antropología Física y Fisiología Animal

Background Semantic 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. Findings This article describes how to merg...

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 d...

Semantic Web technologies have been widely applied in Life Sciences, for example by data providers like OpenLifeData and Web Services frameworks like SADI. The recent OpenLifeData2SADI project offers access to the OpenLifeData data store through SADI services. This paper shows how to merge data from OpenLifeData with other extant SADI services in t...

Two 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...

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 consum...

Accurate and evidence-based diagnosis is a key step in clinical practice. High-quality diagnoses depend on several factors, including physician's training and experience. To assist physicians, medical diagnosis systems can be used, as part of clinical decision support systems (CDSS), to improve the accuracy of diagnoses, as well as inform the clini...

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 Li...

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 in...

Background 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...

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 expone...

Biomedical ontologies are key to the success of Semantic Web technologies in Life Sciences; therefore, it is important to provide appropriate tools for their development and further exploitation. The Ontology Pre Processor Language (OPPL) can be used for automating the complex manipulation needed to devise biomedical ontologies with richer axiomati...

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...

The Cell Cycle Ontology (CCO) has the aim to provide a ‘one stop shop’ for scientists interested in the biology of the cell cycle that would like to ask questions from a molecular and/or systems perspective: what are the genes, proteins, and so on involved in the regulation of cell division? How do they interact to produce the effects observed in t...

IntroductionKnowledge representation languages and tools for building bio-ontologiesBest practices for building bio-ontologiesConclusion AcknowledgementsReferences

In the last years, a number of semantic biomedical systems have been developed to store biomedical knowledge in an accessible manner. However, their practical usage is limited, since they require expertise in semantic languages by the user, or, in the other hand, their query interfaces do not fully exploit the semantics of the knowledge represented...

As ontologies are developed there is a common need to transform them, especially from those that are axiomatically lean to those that are axiomatically rich. Such transformations often require large numbers of axioms to be generated that affect many different parts of the ontology. This paper describes the Ontology Pre-Processor Language (OPPL), a...

Life scientists need help in coping with the plethora of fast growing and scattered knowledge resources. Ideally, this knowledge should be integrated in a form that allows them to pose complex questions that address the properties of biological systems, independently from the origin of the knowledge. Semantic Web technologies prove to be well suite...

The Cell Cycle Ontology (CCO) is an application ontology that automatically captures and integrates detailed knowledge on the cell cycle process by combining, interlinking and enriching knowledge from various sources. CCO uses Semantic Web technologies, and it is accessible via the web for browsing, visualising, advanced querying, and computational...

Over the past few years the number of bio-ontologies has rapidly increased. The evaluation of ontologies has long been a problematic issue. The growing number of ontologies makes the need for a strategy for evaluating quality more urgent. We propose a framework for evaluating the quality of bio-ontologies. This framework is inspired by a well-known...

The Cell Cycle Ontology (http://www.CellCycleOntology.org) is an application ontology that automatically captures and integrates detailed knowledge on the cell cycle process. Cell Cycle Ontology is enabled by semantic web technologies, and is accessible via the web for browsing, visualizing, advanced querying, and computational reasoning. Cell Cycl...

The application of Semantic Web technologies in the life sciences for data integration is still nascent. We have recently built Bio-Gateway, an RDF store that integrates all the candidate OBO Foundry ontologies with other resources such as SWISS-PROT. In the course of developing BioGateway, we faced challenges that are common to other projects that...

Biological knowledge has been, to date, coded by biologists in axiomatically lean bio-ontologies. To facilitate axiomatic enrichment, complex semantics can be encapsulated as Ontology Design Patterns (ODPs). These can be applied across an ontology to make the domain knowledge explicit and therefore available for computational inference. The same OD...

A methodology for in situ migration of a handcrafted Directed Acyclic Graph (DAG), to a formal and expressive OWL version is presented. Well-known untangling methodologies recommend wholesale re-coding. Unable to do this, we have tackled portions of the DAG, lexically dissecting term names to property-based descriptions in OWL. The different levels...

As ontologies are developed there is a common need to transform them, especially from those that are axiomatically lean to those that are axiomatically rich. Such transformations often require large numbers of axioms to be generated that �affect many �different parts of the ontology. This paper describes the Ontology Pre-Processor Language (OPPL),...

Many biomedical ontologies use OBO or OWL as knowledge representation language. The rapid increase of such ontologies calls for adequate tools to facilitate their use. In particular, there is a pressing need to programmatically deal with such ontologies in many applications, including data integration, text mining, as well as semantic applications...

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 ma...

We present the latest release of the Ontology Pre-Processor Language, a language for querying and modifying Description Logic knowledge bases expressed in OWL. We briey describe its renewed syn- tax and decidability. We compare the proposed language expressivity with the state of the art.

ODP, Bio-ontologies

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-DL's underlying model of the world. In this paper we use the disciplines of biology and bioinformati...

"Glossary". list of computer science terms used in this article, with their definitions.

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, espec...

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-DL's underlying model of the world. In this paper we use the disciplines of biology and bioinformati...