Semantic integration of gene expression analysis tools and data sources using software connectors

Abstract Background The study and analysis of gene expression measurements is the primary focus of functional genomics. Once expression data is available, biologists are faced with the task of extracting (new) knowledge associated to the underlying biological phenomenon. Most often, in order to perform this task, biologists execute a number of analysis activities on the available gene expression dataset rather than a single analysis activity. The integration of heteregeneous tools and data sources to create an integrated analysis environment represents a challenging and error-prone task. Semantic integration enables the assignment of unambiguous meanings to data shared among different applications in an integrated environment, allowing the exchange of data in a semantically consistent and meaningful way. This work aims at developing an ontology-based methodology for the semantic integration of gene expression analysis tools and data sources. The proposed methodology relies on software connectors to support not only the access to heterogeneous data sources but also the definition of transformation rules on exchanged data. Results We have studied the different challenges involved in the integration of computer systems and the role software connectors play in this task. We have also studied a number of gene expression technologies, analysis tools and related ontologies in order to devise basic integration scenarios and propose a reference ontology for the gene expression domain. Then, we have defined a number of activities and associated guidelines to prescribe how the development of connectors should be carried out. Finally, we have applied the proposed methodology in the construction of three different integration scenarios involving the use of different tools for the analysis of different types of gene expression data. Conclusions The proposed methodology facilitates the development of connectors capable of semantically integrating different gene expression analysis tools and data sources. The methodology can be used in the development of connectors supporting both simple and nontrivial processing requirements, thus assuring accurate data exchange and information interpretation from exchanged data.

Automated generic integration of flight logbook data into aircraft maintenance systems

The automated transfer of flight logbook information from aircrafts into aircraft maintenance systems leads to reduced ground and maintenance time and is thus desirable from an economical point of view. Until recently, flight logbooks have not been managed electronically in aircrafts or at least the data transfer from aircraft to ground maintenance system has been executed manually. Latest aircraft types such as the Airbus A380 or the Boeing 787 do support an electronic logbook and thus make an automated transfer possible. A generic flight logbook transfer system must deal with different data formats on the input side – due to different aircraft makes and models – as well as different, distributed aircraft maintenance systems for different airlines as aircraft operators. This article contributes the concept and top level distributed system architecture of such a generic system for automated flight log data transfer. It has been developed within a joint industry and applied research project. The architecture has already been successfully evaluated in a prototypical implementation.

Aging and semantic integration in sentence processing: Testing the cognitive workload of wrap-up

The current study investigated the cognitive workload of sentence and clause wrap-up in younger and older readers. A large number of studies have demonstrated the presence of wrap-up effects, peaks in processing time at clause and sentence boundaries that some argue reflect attention to organizational and integrative semantic processes. However, the exact nature of these wrap-up effects is still not entirely clear, with some arguing that wrap-up is not related to processing difficulty, but rather is triggered by a low-level oculomotor response or the implicit monitoring of intonational contour. The notion that wrap-up effects are resource-demanding was directly tested by examining the degree to which sentence and clause wrap-up affects the parafoveal preview benefit. Older and younger adults read passages in which a target word N occurred in a sentence-internal, clause-final, or sentence-final position. A gaze-contingent boundary change paradigm was used in which, on some trials, a non-word preview of word N+1 was replaced by a target word once the eyes crossed an invisible boundary located between words N and N+1. All measures of reading time on word N were longer at clause and sentence boundaries than in the sentence-internal position. In the earliest measures of reading time, sentence and clause wrap-up showed evidence of reducing the magnitude of the preview benefit similarly for younger and older adults. However, this effect was moderated by age in gaze duration, such that older adults showed a complete reduction in the preview benefit in the sentence-final condition. Additionally, sentence and clause wrap-up were negatively associated with the preview benefit. Collectively, the findings from the current study suggest that wrap-up is cognitively demanding and may be less efficient with age, thus, resulting in a reduction of the parafoveal preview during normal reading.

Combining Taxonomies using Word2vec

Taxonomies have gained a broad usage in a variety of fields due to their extensibility, as well as their use for classification and knowledge organization. Of particular interest is the digital document management domain in which their hierarchical structure can be effectively employed in order to organize documents into content-specific categories. Common or standard taxonomies (e.g., the ACM Computing Classification System) contain concepts that are too general for conceptualizing specific knowledge domains. In this paper we introduce a novel automated approach that combines sub-trees from general taxonomies with specialized seed taxonomies by using specific Natural Language Processing techniques. We provide an extensible and generalizable model for combining taxonomies in the practical context of two very large European research projects. Because the manual combination of taxonomies by domain experts is a highly time consuming task, our model measures the semantic relatedness between concept labels in CBOW or skip-gram Word2vec vector spaces. A preliminary quantitative evaluation of the resulting taxonomies is performed after applying a greedy algorithm with incremental thresholds used for matching and combining topic labels.

Information integration in molecular bioscience

Integrating information in the molecular biosciences involves more than the cross-referencing of sequences or structures. Experimental protocols, results of computational analyses, annotations and links to relevant literature form integral parts of this information, and impart meaning to sequence or structure. In this review, we examine some existing approaches to integrating information in the molecular biosciences. We consider not only technical issues concerning the integration of heterogeneous data sources and the corresponding semantic implications, but also the integration of analytical results. Within the broad range of strategies for integration of data and information, we distinguish between platforms and developments. We discuss two current platforms and six current developments, and identify what we believe to be their strengths and limitations. We identify key unsolved problems in integrating information in the molecular biosciences, and discuss possible strategies for addressing them including semantic integration using ontologies, XML as a data model, and graphical user interfaces as integrative environments.

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.

BACKGROUND: Elucidating disease and developmental dysfunction requires understanding variation in phenotype. Single-species model organism anatomy ontologies (ssAOs) have been established to represent this variation. Multi-species anatomy ontologies (msAOs; vertebrate skeletal, vertebrate homologous, teleost, amphibian AOs) have been developed to represent 'natural' phenotypic variation across species. Our aim has been to integrate ssAOs and msAOs for various purposes, including establishing links between phenotypic variation and candidate genes. RESULTS: Previously, msAOs contained a mixture of unique and overlapping content. This hampered integration and coordination due to the need to maintain cross-references or inter-ontology equivalence axioms to the ssAOs, or to perform large-scale obsolescence and modular import. Here we present the unification of anatomy ontologies into Uberon, a single ontology resource that enables interoperability among disparate data and research groups. As a consequence, independent development of TAO, VSAO, AAO, and vHOG has been discontinued. CONCLUSIONS: The newly broadened Uberon ontology is a unified cross-taxon resource for metazoans (animals) that has been substantially expanded to include a broad diversity of vertebrate anatomical structures, permitting reasoning across anatomical variation in extinct and extant taxa. Uberon is a core resource that supports single- and cross-species queries for candidate genes using annotations for phenotypes from the systematics, biodiversity, medical, and model organism communities, while also providing entities for logical definitions in the Cell and Gene Ontologies. THE ONTOLOGY RELEASE FILES ASSOCIATED WITH THE ONTOLOGY MERGE DESCRIBED IN THIS MANUSCRIPT ARE AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases/2013-02-21/ CURRENT ONTOLOGY RELEASE FILES ARE AVAILABLE ALWAYS AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases/

Towards dynamical system models of language-related brain potentials

Event-related brain potentials (ERP) are important neural correlates of cognitive processes. In the domain of language processing, the N400 and P600 reflect lexical-semantic integration and syntactic processing problems, respectively. We suggest an interpretation of these markers in terms of dynamical system theory and present two nonlinear dynamical models for syntactic computations where different processing strategies correspond to functionally different regions in the system's phase space.

A Harmonized Vocabulary For Water Quality

Interoperability of water quality data depends on the use of common models, schemas and vocabularies. However, terms are usually collected during different activities and projects in isolation of one another, resulting in vocabularies that have the same scope being represented with different terms, using different formats and formalisms, and published in various access methods. Significantly, most water quality vocabularies conflate multiple concepts in a single term, e.g. quantity kind, units of measure, substance or taxon, medium and procedure. This bundles information associated with separate elements from the OGC Observations and Measurements (O&M) model into a single slot. We have developed a water quality vocabulary, formalized using RDF, and published as Linked Data. The terms were extracted from existing water quality vocabularies. The observable property model is inspired by O&M but aligned with existing ontologies. The core is an OWL ontology that extends the QUDT ontology for Unit and QuantityKind definitions. We add classes to generalize the QuantityKind model, and properties for explicit description of the conflated concepts. The key elements are defined to be sub-classes or sub-properties of SKOS elements, which enables a SKOS view to be published through standard vocabulary APIs, alongside the full view. QUDT terms are re-used where possible, supplemented with additional Unit and QuantityKind entries required for water quality. Along with items from separate vocabularies developed for objects, media, and procedures, these are linked into definitions in the actual observable property vocabulary. Definitions of objects related to chemical substances are linked to items from the Chemical Entities of Biological Interest (ChEBI) ontology. Mappings to other vocabularies, such as DBPedia, are in separately maintained files. By formalizing the model for observable properties, and clearly labelling the separate concerns, water quality observations from different sources may be more easily merged and also transformed to O&M for cross-domain applications.

Harmonization Of Vocabularies For Water Data

Observational data encodes values of properties associated with a feature of interest, estimated by a specified procedure. For water the properties are physical parameters like level, volume, flow and pressure, and concentrations and counts of chemicals, substances and organisms. Water property vocabularies have been assembled at project, agency and jurisdictional level. Organizations such as EPA, USGS, CEH, GA and BoM maintain vocabularies for internal use, and may make them available externally as text files. BODC and MMI have harvested many water vocabularies alongside others of interest in their domain, formalized the content using SKOS, and published them through web interfaces. Scope is highly variable both within and between vocabularies. Individual items may conflate multiple concerns (e.g. property, instrument, statistical procedure, units). There is significant duplication between vocabularies. Semantic web technologies provide the opportunity both to publish vocabularies more effectively, and achieve harmonization to support greater interoperability between datasets. - Models for vocabulary items (property, substance/taxon, process, unit-of-measure, etc) may be formalized OWL ontologies, supporting semantic relations between items in related vocabularies; - By specializing the ontology elements from SKOS concepts and properties, diverse vocabularies may be published through a common interface; - Properties from standard vocabularies (e.g. OWL, SKOS, PROV-O and VAEM) support mappings between vocabularies having a similar scope - Existing items from various sources may be assembled into new virtual vocabularies However, there are a number of challenges: - use of standard properties such as sameAs/exactMatch/equivalentClass require reasoning support; - items have been conceptualised as both classes and individuals, complicating the mapping mechanics; - re-use of items across vocabularies may conflict with expectations concerning URI patterns; - versioning complicates cross-references and re-use. This presentation will discuss ways to harness semantic web technologies to publish harmonized vocabularies, and will summarise how many of the challenges may be addressed.

Pangea - Arquitetura semântica para a integração de dados e modelos geoespaciais na Web

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Motivações funcionais da gradação entre construções encaixadas nominais e verbais

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Framework para integração semântica de dados geoespaciais: integração de dados geológicos

Pós-graduação em Ciência da Computação - IBILCE

Herramienta basada en vistas para la generación automática de anotaciones de fuentes RDF

Durante los últimos años, el imparable crecimiento de fuentes de datos biomédicas, propiciado por el desarrollo de técnicas de generación de datos masivos (principalmente en el campo de la genómica) y la expansión de tecnologías para la comunicación y compartición de información ha propiciado que la investigación biomédica haya pasado a basarse de forma casi exclusiva en el análisis distribuido de información y en la búsqueda de relaciones entre diferentes fuentes de datos. Esto resulta una tarea compleja debido a la heterogeneidad entre las fuentes de datos empleadas (ya sea por el uso de diferentes formatos, tecnologías, o modelizaciones de dominios). Existen trabajos que tienen como objetivo la homogeneización de estas con el fin de conseguir que la información se muestre de forma integrada, como si fuera una única base de datos. Sin embargo no existe ningún trabajo que automatice de forma completa este proceso de integración semántica. Existen dos enfoques principales para dar solución al problema de integración de fuentes heterogéneas de datos: Centralizado y Distribuido. Ambos enfoques requieren de una traducción de datos de un modelo a otro. Para realizar esta tarea se emplean formalizaciones de las relaciones semánticas entre los modelos subyacentes y el modelo central. Estas formalizaciones se denominan comúnmente anotaciones. Las anotaciones de bases de datos, en el contexto de la integración semántica de la información, consisten en definir relaciones entre términos de igual significado, para posibilitar la traducción automática de la información. Dependiendo del problema en el que se esté trabajando, estas relaciones serán entre conceptos individuales o entre conjuntos enteros de conceptos (vistas). El trabajo aquí expuesto se centra en estas últimas. El proyecto europeo p-medicine (FP7-ICT-2009-270089) se basa en el enfoque centralizado y hace uso de anotaciones basadas en vistas y cuyas bases de datos están modeladas en RDF. Los datos extraídos de las diferentes fuentes son traducidos e integrados en un Data Warehouse. Dentro de la plataforma de p-medicine, el Grupo de Informática Biomédica (GIB) de la Universidad Politécnica de Madrid, en el cuál realicé mi trabajo, proporciona una herramienta para la generación de las necesarias anotaciones de las bases de datos RDF. Esta herramienta, denominada Ontology Annotator ofrece la posibilidad de generar de manera manual anotaciones basadas en vistas. Sin embargo, aunque esta herramienta muestra las fuentes de datos a anotar de manera gráfica, la gran mayoría de usuarios encuentran difícil el manejo de la herramienta , y pierden demasiado tiempo en el proceso de anotación. Es por ello que surge la necesidad de desarrollar una herramienta más avanzada, que sea capaz de asistir al usuario en el proceso de anotar bases de datos en p-medicine. El objetivo es automatizar los procesos más complejos de la anotación y presentar de forma natural y entendible la información relativa a las anotaciones de bases de datos RDF. Esta herramienta ha sido denominada Ontology Annotator Assistant, y el trabajo aquí expuesto describe el proceso de diseño y desarrollo, así como algunos algoritmos innovadores que han sido creados por el autor del trabajo para su correcto funcionamiento. Esta herramienta ofrece funcionalidades no existentes previamente en ninguna otra herramienta del área de la anotación automática e integración semántica de bases de datos. ---ABSTRACT---Over the last years, the unstoppable growth of biomedical data sources, mainly thanks to the development of massive data generation techniques (specially in the genomics field) and the rise of the communication and information sharing technologies, lead to the fact that biomedical research has come to rely almost exclusively on the analysis of distributed information and in finding relationships between different data sources. This is a complex task due to the heterogeneity of the sources used (either by the use of different formats, technologies or domain modeling). There are some research proyects that aim homogenization of these sources in order to retrieve information in an integrated way, as if it were a single database. However there is still now work to automate completely this process of semantic integration. There are two main approaches with the purpouse of integrating heterogeneous data sources: Centralized and Distributed. Both approches involve making translation from one model to another. To perform this task there is a need of using formalization of the semantic relationships between the underlying models and the main model. These formalizations are also calles annotations. In the context of semantic integration of the information, data base annotations consist on defining relations between concepts or words with the same meaning, so the automatic translation can be performed. Depending on the task, the ralationships can be between individuals or between whole sets of concepts (views). This paper focuses on the latter. The European project p-medicine (FP7-ICT-2009-270089) is based on the centralized approach. It uses view based annotations and RDF modeled databases. The data retireved from different data sources is translated and joined into a Data Warehouse. Within the p-medicine platform, the Biomedical Informatics Group (GIB) of the Polytechnic University of Madrid, in which I worked, provides a software to create annotations for the RDF sources. This tool, called Ontology Annotator, is used to create annotations manually. However, although Ontology Annotator displays the data sources graphically, most of the users find it difficult to use this software, thus they spend too much time to complete the task. For this reason there is a need to develop a more advanced tool, which would be able to help the user in the task of annotating p-medicine databases. The aim is automating the most complex processes of the annotation and display the information clearly and easy understanding. This software is called Ontology Annotater Assistant and this book describes the process of design and development of it. as well as some innovative algorithms that were designed by the author of the work. This tool provides features that no other software in the field of automatic annotation can provide.

An ontology-driven communication architecture for spontaneous interoperability in Home Automation systems

Current solutions to the interoperability problem in Home Automation systems are based on a priori agreements where protocols are standardized and later integrated through specific gateways. In this regards, spontaneous interoperability, or the ability to integrate new devices into the system with minimum planning in advance, is still considered a major challenge that requires new models of connectivity. In this paper we present an ontology-driven communication architecture whose main contribution is that it facilitates spontaneous interoperability at system model level by means of semantic integration. The architecture has been validated through a prototype and the main challenges for achieving complete spontaneous interoperability are also evaluated.

Sistema para integrar automáticamente datos públicos del NCBI en la plataforma de medicina personalizada p-medicine

En los últimos años ha habido un gran aumento de fuentes de datos biomédicos. La aparición de nuevas técnicas de extracción de datos genómicos y generación de bases de datos que contienen esta información ha creado la necesidad de guardarla para poder acceder a ella y trabajar con los datos que esta contiene. La información contenida en las investigaciones del campo biomédico se guarda en bases de datos. Esto se debe a que las bases de datos permiten almacenar y manejar datos de una manera simple y rápida. Dentro de las bases de datos existen una gran variedad de formatos, como pueden ser bases de datos en Excel, CSV o RDF entre otros. Actualmente, estas investigaciones se basan en el análisis de datos, para a partir de ellos, buscar correlaciones que permitan inferir, por ejemplo, tratamientos nuevos o terapias más efectivas para una determinada enfermedad o dolencia. El volumen de datos que se maneja en ellas es muy grande y dispar, lo que hace que sea necesario el desarrollo de métodos automáticos de integración y homogeneización de los datos heterogéneos. El proyecto europeo p-medicine (FP7-ICT-2009-270089) tiene como objetivo asistir a los investigadores médicos, en este caso de investigaciones relacionadas con el cáncer, proveyéndoles con nuevas herramientas para el manejo de datos y generación de nuevo conocimiento a partir del análisis de los datos gestionados. La ingestión de datos en la plataforma de p-medicine, y el procesamiento de los mismos con los métodos proporcionados, buscan generar nuevos modelos para la toma de decisiones clínicas. Dentro de este proyecto existen diversas herramientas para integración de datos heterogéneos, diseño y gestión de ensayos clínicos, simulación y visualización de tumores y análisis estadístico de datos. Precisamente en el ámbito de la integración de datos heterogéneos surge la necesidad de añadir información externa al sistema proveniente de bases de datos públicas, así como relacionarla con la ya existente mediante técnicas de integración semántica. Para resolver esta necesidad se ha creado una herramienta, llamada Term Searcher, que permite hacer este proceso de una manera semiautomática. En el trabajo aquí expuesto se describe el desarrollo y los algoritmos creados para su correcto funcionamiento. Esta herramienta ofrece nuevas funcionalidades que no existían dentro del proyecto para la adición de nuevos datos provenientes de fuentes públicas y su integración semántica con datos privados.---ABSTRACT---Over the last few years, there has been a huge growth of biomedical data sources. The emergence of new techniques of genomic data generation and data base generation that contain this information, has created the need of storing it in order to access and work with its data. The information employed in the biomedical research field is stored in databases. This is due to the capability of databases to allow storing and managing data in a quick and simple way. Within databases there is a variety of formats, such as Excel, CSV or RDF. Currently, these biomedical investigations are based on data analysis, which lead to the discovery of correlations that allow inferring, for example, new treatments or more effective therapies for a specific disease or ailment. The volume of data handled in them is very large and dissimilar, which leads to the need of developing new methods for automatically integrating and homogenizing the heterogeneous data. The p-medicine (FP7-ICT-2009-270089) European project aims to assist medical researchers, in this case related to cancer research, providing them with new tools for managing and creating new knowledge from the analysis of the managed data. The ingestion of data into the platform and its subsequent processing with the provided tools aims to enable the generation of new models to assist in clinical decision support processes. Inside this project, there exist different tools related to areas such as the integration of heterogeneous data, the design and management of clinical trials, simulation and visualization of tumors and statistical data analysis. Particularly in the field of heterogeneous data integration, there is a need to add external information from public databases, and relate it to the existing ones through semantic integration methods. To solve this need a tool has been created: the term Searcher. This tool aims to make this process in a semiautomatic way. This work describes the development of this tool and the algorithms employed in its operation. This new tool provides new functionalities that did not exist inside the p-medicine project for adding new data from public databases and semantically integrate them with private data.