872 resultados para phenotype ontology


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Query rewriting is one of the fundamental steps in ontologybased data access (OBDA) approaches. It takes as inputs an ontology and a query written according to that ontology, and produces as an output a set of queries that should be evaluated to account for the inferences that should be considered for that query and ontology. Different query rewriting systems give support to different ontology languages with varying expressiveness, and the rewritten queries obtained as an output do also vary in expressiveness. This heterogeneity has traditionally made it difficult to compare different approaches, and the area lacks in general commonly agreed benchmarks that could be used not only for such comparisons but also for improving OBDA support. In this paper we compile data, dimensions and measurements that have been used to evaluate some of the most recent systems, we analyse and characterise these assets, and provide a unified set of them that could be used as a starting point towards a more systematic benchmarking process for such systems. Finally, we apply this initial benchmark with some of the most relevant OBDA approaches in the state of the art.

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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.

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Apart from providing semantics and reasoning power to data, ontologies enable and facilitate interoperability across heterogeneous systems or environments. A good practice when developing ontologies is to reuse as much knowledge as possible in order to increase interoperability by reducing heterogeneity across models and to reduce development effort. Ontology registries, indexes and catalogues facilitate the task of finding, exploring and reusing ontologies by collecting them from different sources. This paper presents an ontology catalogue for the smart cities and related domains. This catalogue is based on curated metadata and incorporates ontology evaluation features. Such catalogue represents the first approach within this community and it would be highly useful for new ontology developments or for describing and annotating existing ontologies.

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This paper aims to present a preliminary version of asupport-system in the air transport passenger domain. This system relies upon an underlying on-tological structure representing a normative framework to facilitatethe provision of contextualized relevant legal information.This information includes the pas-senger's rights and itenhances self-litigation and the decision-making process of passengers.Our contribution is based in the attempt of rendering a user-centric-legal informationgroundedon case-scenarios of the most pronounced incidents related to the consumer complaints in the EU.A number ofadvantages with re-spect to the current state-of-the-art services are discussed and a case study illu-strates a possible technological application.

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Presentación en Workshop EUON 2014

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We describe a domain ontology development approach that extracts domain terms from folksonomies and enrich them with data and vocabularies from the Linked Open Data cloud. As a result, we obtain lightweight domain ontologies that combine the emergent knowledge of social tagging systems with formal knowledge from Ontologies. In order to illustrate the feasibility of our approach, we have produced an ontology in the financial domain from tags available in Delicious, using DBpedia, OpenCyc and UMBEL as additional knowledge sources.

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Query rewriting is one of the fundamental steps in ontologybased data access (OBDA) approaches. It takes as inputs an ontology and a query written according to that ontology, and produces as an output a set of queries that should be evaluated to account for the inferences that should be considered for that query and ontology. Different query rewriting systems give support to different ontology languages with varying expressiveness, and the rewritten queries obtained as an output do also vary in expressiveness. This heterogeneity has traditionally made it difficult to compare different approaches, and the area lacks in general commonly agreed benchmarks that could be used not only for such comparisons but also for improving OBDA support. In this paper we compile data, dimensions and measurements that have been used to evaluate some of the most recent systems, we analyse and characterise these assets, and provide a unified set of them that could be used as a starting point towards a more systematic benchmarking process for such systems. Finally, we apply this initial benchmark with some of the most relevant OBDA approaches in the state of the art.

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Ontology-Based Data Access (OBDA) permite el acceso a diferentes tipos de fuentes de datos (tradicionalmente bases de datos) usando un modelo más abstracto proporcionado por una ontología. La reescritura de consultas (query rewriting) usa una ontología para reescribir una consulta en una consulta reescrita que puede ser evaluada en la fuente de datos. Las consultas reescritas recuperan las respuestas que están implicadas por la combinación de los datos explicitamente almacenados en la fuente de datos, la consulta original y la ontología. Al trabajar sólo sobre las queries, la reescritura de consultas permite OBDA sobre cualquier fuente de datos que puede ser consultada, independientemente de las posibilidades para modificarla. Sin embargo, producir y evaluar las consultas reescritas son procesos costosos que suelen volverse más complejos conforme la expresividad y tamaño de la ontología y las consultas aumentan. En esta tesis exploramos distintas optimizaciones que peuden ser realizadas tanto en el proceso de reescritura como en las consultas reescritas para mejorar la aplicabilidad de OBDA en contextos realistas. Nuestra contribución técnica principal es un sistema de reescritura de consultas que implementa las optimizaciones presentadas en esta tesis. Estas optimizaciones son las contribuciones principales de la tesis y se pueden agrupar en tres grupos diferentes: -optimizaciones que se pueden aplicar al considerar los predicados en la ontología que no están realmente mapeados con las fuentes de datos. -optimizaciones en ingeniería que se pueden aplicar al manejar el proceso de reescritura de consultas en una forma que permite reducir la carga computacional del proceso de generación de consultas reescritas. -optimizaciones que se pueden aplicar al considerar metainformación adicional acerca de las características de la ABox. En esta tesis proporcionamos demostraciones formales acerca de la corrección y completitud de las optimizaciones propuestas, y una evaluación empírica acerca del impacto de estas optimizaciones. Como contribución adicional, parte de este enfoque empírico, proponemos un banco de pruebas (benchmark) para la evaluación de los sistemas de reescritura de consultas. Adicionalmente, proporcionamos algunas directrices para la creación y expansión de esta clase de bancos de pruebas. ABSTRACT Ontology-Based Data Access (OBDA) allows accessing different kinds of data sources (traditionally databases) using a more abstract model provided by an ontology. Query rewriting uses such ontology to rewrite a query into a rewritten query that can be evaluated on the data source. The rewritten queries retrieve the answers that are entailed by the combination of the data explicitly stored in the data source, the original query and the ontology. However, producing and evaluating the rewritten queries are both costly processes that become generally more complex as the expressiveness and size of the ontology and queries increase. In this thesis we explore several optimisations that can be performed both in the rewriting process and in the rewritten queries to improve the applicability of OBDA in real contexts. Our main technical contribution is a query rewriting system that implements the optimisations presented in this thesis. These optimisations are the core contributions of the thesis and can be grouped into three different groups: -optimisations that can be applied when considering the predicates in the ontology that are actually mapped to the data sources. -engineering optimisations that can be applied by handling the process of query rewriting in a way that permits to reduce the computational load of the query generation process. -optimisations that can be applied when considering additional metainformation about the characteristics of the ABox. In this thesis we provide formal proofs for the correctness of the proposed optimisations, and an empirical evaluation about the impact of the optimisations. As an additional contribution, part of this empirical approach, we propose a benchmark for the evaluation of query rewriting systems. We also provide some guidelines for the creation and expansion of this kind of benchmarks.

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La evaluación de ontologías, incluyendo diagnóstico y reparación de las mismas, es una compleja actividad que debe llevarse a cabo en cualquier proyecto de desarrollo ontológico para comprobar la calidad técnica de las ontologías. Sin embargo, existe una gran brecha entre los enfoques metodológicos sobre la evaluación de ontologías y las herramientas que le dan soporte. En particular, no existen enfoques que proporcionen guías concretas sobre cómo diagnosticar y, en consecuencia, reparar ontologías. Esta tesis pretende avanzar en el área de la evaluación de ontologías, concretamente en la actividad de diagnóstico. Los principales objetivos de esta tesis son (a) ayudar a los desarrolladores en el diagnóstico de ontologías para encontrar errores comunes y (b) facilitar dicho diagnóstico reduciendo el esfuerzo empleado proporcionando el soporte tecnológico adecuado. Esta tesis presenta las siguientes contribuciones: • Catálogo de 41 errores comunes que los ingenieros ontológicos pueden cometer durante el desarrollo de ontologías. • Modelo de calidad para el diagnóstico de ontologías alineando el catálogo de errores comunes con modelos de calidad existentes. • Diseño e implementación de 48 métodos para detectar 33 de los 41 errores comunes en el catálogo. • Soporte tecnológico OOPS!, que permite el diagnstico de ontologías de forma (semi)automática. De acuerdo con los comentarios recibidos y los resultados de los test de satisfacción realizados, se puede afirmar que el enfoque desarrollado y presentado en esta tesis ayuda de forma efectiva a los usuarios a mejorar la calidad de sus ontologías. OOPS! ha sido ampliamente aceptado por un gran número de usuarios de formal global y ha sido utilizado alrededor de 3000 veces desde 60 países diferentes. OOPS! se ha integrado en software desarrollado por terceros y ha sido instalado en empresas para ser utilizado tanto durante el desarrollo de ontologías como en actividades de formación. Abstract Ontology evaluation, which includes ontology diagnosis and repair, is a complex activity that should be carried out in every ontology development project, because it checks for the technical quality of the ontology. However, there is an important gap between the methodological work about ontology evaluation and the tools that support such an activity. More precisely, not many approaches provide clear guidance about how to diagnose ontologies and how to repair them accordingly. This thesis aims to advance the current state of the art of ontology evaluation, specifically in the ontology diagnosis activity. The main goals of this thesis are (a) to help ontology engineers to diagnose their ontologies in order to find common pitfalls and (b) to lessen the effort required from them by providing the suitable technological support. This thesis presents the following main contributions: • A catalogue that describes 41 pitfalls that ontology developers might include in their ontologies. • A quality model for ontology diagnose that aligns the pitfall catalogue to existing quality models for semantic technologies. • The design and implementation of 48 methods for detecting 33 out of the 41 pitfalls defined in the catalogue. • A system called OOPS! (OntOlogy Pitfall Scanner!) that allows ontology engineers to (semi)automatically diagnose their ontologies. According to the feedback gathered and satisfaction tests carried out, the approach developed and presented in this thesis effectively helps users to increase the quality of their ontologies. At the time of writing this thesis, OOPS! has been broadly accepted by a high number of users worldwide and has been used around 3000 times from 60 different countries. OOPS! is integrated with third-party software and is locally installed in private enterprises being used both for ontology development activities and training courses.

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In this thesis, we designed and implemented an online tool (named "OnToology") to automatically generate documentation and perform evaluation for ontologies. It is also integrated with GitHub version control system to support collaborative environments.

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Uteroglobin (UG) is a multifunctional, secreted protein that has receptor-mediated functions. The human UG (hUG) gene is mapped to chromosome 11q12.2–13.1, a region frequently rearranged or deleted in many cancers. Although high levels of hUG expression are characteristic of the mucosal epithelia of many organs, hUG expression is either drastically reduced or totally absent in adenocarcinomas and in viral-transformed epithelial cells derived from the same organs. In agreement with these findings, in an ongoing study to evaluate the effects of aging on UG-knockout mice, 16/16 animals developed malignant tumors, whereas the wild-type littermates (n = 25) remained apparently healthy even after 1½ years. In the present investigation, we sought to determine the effects of induced-expression of hUG in human cancer cells by transfecting several cell lines derived from adenocarcinomas of various organs with an hUG-cDNA construct. We demonstrate that induced hUG expression reverses at least two of the most important characteristics of the transformed phenotype (i.e., anchorage-independent growth on soft agar and extracellular matrix invasion) of only those cancer cells that also express the hUG receptor. Similarly, treatment of the nontransfected, receptor-positive adenocarcinoma cells with purified recombinant hUG yielded identical results. Taken together, these data define receptor-mediated, autocrine and paracrine pathways through which hUG reverses the transformed phenotype of cancer cells and consequently, may have tumor suppressor-like effects.

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The genetic pathways that control development of the early mammalian embryo have remained poorly understood, in part because the systematic mutant screens that have been so successful in the identification of genes and pathways that direct embryonic development in Drosophila, Caenorhabditis elegans, and zebrafish have not been applied to mammalian embryogenesis. Here we demonstrate that chemical mutagenesis with ethylnitrosourea can be combined with the resources of mouse genomics to identify new genes that are essential for mammalian embryogenesis. A pilot screen for abnormal morphological phenotypes of midgestation embryos identified five mutant lines; the phenotypes of four of the lines are caused by recessive traits that map to single regions of the genome. Three mutant lines display defects in neural tube closure: one is caused by an allele of the open brain (opb) locus, one defines a previously unknown locus, and one has a complex genetic basis. Two mutations produce novel early phenotypes and map to regions of the genome not previously implicated in embryonic patterning.

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Searching for nervous system candidates that could directly induce T cell cytokine secretion, I tested four neuropeptides (NPs): somatostatin, calcitonin gene-related peptide, neuropeptide Y, and substance P. Comparing neuropeptide-driven versus classical antigen-driven cytokine secretion from T helper cells Th0, Th1, and Th2 autoimmune-related T cell populations, I show that the tested NPs, in the absence of any additional factors, directly induce a marked secretion of cytokines [interleukin 2 (IL-2), interferon-γ, IL-4, and IL-10) from T cells. Furthermore, NPs drive distinct Th1 and Th2 populations to a “forbidden” cytokine secretion: secretion of Th2 cytokines from a Th1 T cell line and vice versa. Such a phenomenon cannot be induced by classical antigenic stimulation. My study suggests that the nervous system, through NPs interacting with their specific T cell-expressed receptors, can lead to the secretion of both typical and atypical cytokines, to the breakdown of the commitment to a distinct Th phenotype, and a potentially altered function and destiny of T cells in vivo.

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DNA polymerase β (pol β) is the most error prone of all known eukaryotic DNA polymerases tested in vitro. Here, we show that cells overexpressing pol β cDNA have acquired a spontaneous mutator phenotype. By measuring the appearance of mutational events using three independent assays, we found that genetic instability increased in the cell lines that overexpressed pol β. In addition, these cells displayed a decreased sensitivity to cancer chemotherapeutic, bifunctional, DNA-damaging agents such as cisplatin, melphalan, and mechlorethamine, resulting in enhanced mutagenesis compared with control cells. By using cell-free extracts and modified DNA substrates, we present data in support of error-prone translesion replication as one of the key determinants of tolerance phenotype. These results have implications for the potential role of pol β overexpression in cancer predisposition and tumor progression during chemotherapy.

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Acknowledgements Mayuri Munasinghe was supported by a Commonwealth Scholarship (ref no. LKCS-2009-384). The development and use of the SNP chip was funded by a BBSRC grant BB/J003336/1. The authors thank Owen Price (University of Wollongong, Australia) for producing the coloured province map of Sri Lanka, Gareth Norton (Aberdeen) for merging the RDP1 SNP data with the Sri Lankan data and Tony Travis (Aberdeen) for help with PCA.