141 research outputs found

    Matching arthropod anatomy ontologies to the Hymenoptera Anatomy Ontology: results from a manual alignment

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    Matching is an important step for increasing interoperability between heterogeneous ontologies. Here, we present alignments we produced as domain experts, using a manual mapping process, between the Hymenoptera Anatomy Ontology and other existing arthropod anatomy ontologies (representing spiders, ticks, mosquitoes and Drosophila melanogaster). The resulting alignments contain from 43 to 368 mappings (correspondences), all derived from domain-expert input. Despite the many pairwise correspondences, only 11 correspondences were found in common between all ontologies, suggesting either major intrinsic differences between each ontology or gaps in representing each group’s anatomy. Furthermore, we compare our findings with putative correspondences from Bioportal (derived from LOOM software) and summarize the results in a total evidence alignment. We briefly discuss characteristics of the ontologies and issues with the matching process.Database URL: http://purl.obolibrary.org/obo/hao/2012-07-18/arthropod-mappings.ob

    Local matching learning of large scale biomedical ontologies

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    Les larges ontologies biomédicales décrivent généralement le même domaine d'intérêt, mais en utilisant des modèles de modélisation et des vocabulaires différents. Aligner ces ontologies qui sont complexes et hétérogènes est une tâche fastidieuse. Les systèmes de matching doivent fournir des résultats de haute qualité en tenant compte de la grande taille de ces ressources. Les systèmes de matching d'ontologies doivent résoudre deux problèmes: (i) intégrer la grande taille d'ontologies, (ii) automatiser le processus d'alignement. Le matching d'ontologies est une tâche difficile en raison de la large taille des ontologies. Les systèmes de matching d'ontologies combinent différents types de matcher pour résoudre ces problèmes. Les principaux problèmes de l'alignement de larges ontologies biomédicales sont: l'hétérogénéité conceptuelle, l'espace de recherche élevé et la qualité réduite des alignements résultants. Les systèmes d'alignement d'ontologies combinent différents matchers afin de réduire l'hétérogénéité. Cette combinaison devrait définir le choix des matchers à combiner et le poids. Différents matchers traitent différents types d'hétérogénéité. Par conséquent, le paramétrage d'un matcher devrait être automatisé par les systèmes d'alignement d'ontologies afin d'obtenir une bonne qualité de correspondance. Nous avons proposé une approche appele "local matching learning" pour faire face à la fois à la grande taille des ontologies et au problème de l'automatisation. Nous divisons un gros problème d'alignement en un ensemble de problèmes d'alignement locaux plus petits. Chaque problème d'alignement local est indépendamment aligné par une approche d'apprentissage automatique. Nous réduisons l'énorme espace de recherche en un ensemble de taches de recherche de corresondances locales plus petites. Nous pouvons aligner efficacement chaque tache de recherche de corresondances locale pour obtenir une meilleure qualité de correspondance. Notre approche de partitionnement se base sur une nouvelle stratégie à découpes multiples générant des partitions non volumineuses et non isolées. Par conséquence, nous pouvons surmonter le problème de l'hétérogénéité conceptuelle. Le nouvel algorithme de partitionnement est basé sur le clustering hiérarchique par agglomération (CHA). Cette approche génère un ensemble de tâches de correspondance locale avec un taux de couverture suffisant avec aucune partition isolée. Chaque tâche d'alignement local est automatiquement alignée en se basant sur les techniques d'apprentissage automatique. Un classificateur local aligne une seule tâche d'alignement local. Les classificateurs locaux sont basés sur des features élémentaires et structurelles. L'attribut class de chaque set de donne d'apprentissage " training set" est automatiquement étiqueté à l'aide d'une base de connaissances externe. Nous avons appliqué une technique de sélection de features pour chaque classificateur local afin de sélectionner les matchers appropriés pour chaque tâche d'alignement local. Cette approche réduit la complexité d'alignement et augmente la précision globale par rapport aux méthodes d'apprentissage traditionnelles. Nous avons prouvé que l'approche de partitionnement est meilleure que les approches actuelles en terme de précision, de taux de couverture et d'absence de partitions isolées. Nous avons évalué l'approche d'apprentissage d'alignement local à l'aide de diverses expériences basées sur des jeux de données d'OAEI 2018. Nous avons déduit qu'il est avantageux de diviser une grande tâche d'alignement d'ontologies en un ensemble de tâches d'alignement locaux. L'espace de recherche est réduit, ce qui réduit le nombre de faux négatifs et de faux positifs. L'application de techniques de sélection de caractéristiques à chaque classificateur local augmente la valeur de rappel pour chaque tâche d'alignement local.Although a considerable body of research work has addressed the problem of ontology matching, few studies have tackled the large ontologies used in the biomedical domain. We introduce a fully automated local matching learning approach that breaks down a large ontology matching task into a set of independent local sub-matching tasks. This approach integrates a novel partitioning algorithm as well as a set of matching learning techniques. The partitioning method is based on hierarchical clustering and does not generate isolated partitions. The matching learning approach employs different techniques: (i) local matching tasks are independently and automatically aligned using their local classifiers, which are based on local training sets built from element level and structure level features, (ii) resampling techniques are used to balance each local training set, and (iii) feature selection techniques are used to automatically select the appropriate tuning parameters for each local matching context. Our local matching learning approach generates a set of combined alignments from each local matching task, and experiments show that a multiple local classifier approach outperforms conventional, state-of-the-art approaches: these use a single classifier for the whole ontology matching task. In addition, focusing on context-aware local training sets based on local feature selection and resampling techniques significantly enhances the obtained results

    Whole Transcriptome Sequencing Reveals Gene Expression and Splicing Differences in Brain Regions Affected by Alzheimer's Disease

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    Recent studies strongly indicate that aberrations in the control of gene expression might contribute to the initiation and progression of Alzheimer's disease (AD). In particular, alternative splicing has been suggested to play a role in spontaneous cases of AD. Previous transcriptome profiling of AD models and patient samples using microarrays delivered conflicting results. This study provides, for the first time, transcriptomic analysis for distinct regions of the AD brain using RNA-Seq next-generation sequencing technology. Illumina RNA-Seq analysis was used to survey transcriptome profiles from total brain, frontal and temporal lobe of healthy and AD post-mortem tissue. We quantified gene expression levels, splicing isoforms and alternative transcript start sites. Gene Ontology term enrichment analysis revealed an overrepresentation of genes associated with a neuron's cytological structure and synapse function in AD brain samples. Analysis of the temporal lobe with the Cufflinks tool revealed that transcriptional isoforms of the apolipoprotein E gene, APOE-001, -002 and -005, are under the control of different promoters in normal and AD brain tissue. We also observed differing expression levels of APOE-001 and -002 splice variants in the AD temporal lobe. Our results indicate that alternative splicing and promoter usage of the APOE gene in AD brain tissue might reflect the progression of neurodegeneration

    Automated extension of biomedical ontologies

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    Developing and extending a biomedical ontology is a very demanding process, particularly because biomedical knowledge is diverse, complex and continuously changing and growing. Existing automated and semi-automated techniques are not tailored to handling the issues in extending biomedical ontologies. This thesis advances the state of the art in semi-automated ontology extension by presenting a framework as well as methods and methodologies for automating ontology extension specifically designed to address the features of biomedical ontologies.The overall strategy is based on first predicting the areas of the ontology that are in need of extension and then applying ontology learning and ontology matching techniques to extend them. A novel machine learning approach for predicting these areas based on features of past ontology versions was developed and successfully applied to the Gene Ontology. Methods and techniques were also specifically designed for matching biomedical ontologies and retrieving relevant biomedical concepts from text, which were shown to be successful in several applications.O desenvolvimento e extensão de uma ontologia biomédica é um processo muito exigente, dada a diversidade, complexidade e crescimento contínuo do conhecimento biomédico. As técnicas existentes nesta área não estão preparadas para lidar com os desafios da extensão de uma ontologia biomédica. Esta tese avança o estado da arte na extensão semi-automática de ontologias, apresentando uma framework assim como métodos e metodologias para a automação da extensão de ontologias especificamente desenhados tendo em conta as características das ontologias biomédicas. A estratégia global é baseada em primeiro prever quais as áreas da ontologia que necessitam extensão, e depois usá-las como enfoque para técnicas de alinhamento e aprendizagem de ontologias, com o objectivo de as estender. Uma nova estratégia de aprendizagem automática para prever estas áreas baseada em atributos de antigas versões de ontologias foi desenvolvida e testada com sucesso na Gene Ontology. Foram também especificamente desenvolvidos métodos e técnicas para o alinhamento de ontologias biomédicas e extracção de conceitos relevantes de texto, cujo sucesso foi demonstrado em várias aplicações.Fundação para a Ciência e a Tecnologi

    Medical Informatics

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    Information technology has been revolutionizing the everyday life of the common man, while medical science has been making rapid strides in understanding disease mechanisms, developing diagnostic techniques and effecting successful treatment regimen, even for those cases which would have been classified as a poor prognosis a decade earlier. The confluence of information technology and biomedicine has brought into its ambit additional dimensions of computerized databases for patient conditions, revolutionizing the way health care and patient information is recorded, processed, interpreted and utilized for improving the quality of life. This book consists of seven chapters dealing with the three primary issues of medical information acquisition from a patient's and health care professional's perspective, translational approaches from a researcher's point of view, and finally the application potential as required by the clinicians/physician. The book covers modern issues in Information Technology, Bioinformatics Methods and Clinical Applications. The chapters describe the basic process of acquisition of information in a health system, recent technological developments in biomedicine and the realistic evaluation of medical informatics

    A framework for analyzing changes in health care lexicons and nomenclatures

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    Ontologies play a crucial role in current web-based biomedical applications for capturing contextual knowledge in the domain of life sciences. Many of the so-called bio-ontologies and controlled vocabularies are known to be seriously defective from both terminological and ontological perspectives, and do not sufficiently comply with the standards to be considered formai ontologies. Therefore, they are continuously evolving in order to fix the problems and provide valid knowledge. Moreover, many problems in ontology evolution often originate from incomplete knowledge about the given domain. As our knowledge improves, the related definitions in the ontologies will be altered. This problem is inadequately addressed by available tools and algorithms, mostly due to the lack of suitable knowledge representation formalisms to deal with temporal abstract notations, and the overreliance on human factors. Also most of the current approaches have been focused on changes within the internal structure of ontologies, and interactions with other existing ontologies have been widely neglected. In this research, alter revealing and classifying some of the common alterations in a number of popular biomedical ontologies, we present a novel agent-based framework, RLR (Represent, Legitimate, and Reproduce), to semi-automatically manage the evolution of bio-ontologies, with emphasis on the FungalWeb Ontology, with minimal human intervention. RLR assists and guides ontology engineers through the change management process in general, and aids in tracking and representing the changes, particularly through the use of category theory. Category theory has been used as a mathematical vehicle for modeling changes in ontologies and representing agents' interactions, independent of any specific choice of ontology language or particular implementation. We have also employed rule-based hierarchical graph transformation techniques to propose a more specific semantics for analyzing ontological changes and transformations between different versions of an ontology, as well as tracking the effects of a change in different levels of abstractions. Thus, the RLR framework enables one to manage changes in ontologies, not as standalone artifacts in isolation, but in contact with other ontologies in an openly distributed semantic web environment. The emphasis upon the generality and abstractness makes RLR more feasible in the multi-disciplinary domain of biomedical Ontology change management

    Identification of differentially expressed genes from multipotent epithelia at the onset of an asexual development

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    © The Author(s), 2016. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 6 (2016): 27357, doi:10.1038/srep27357.Organisms that have evolved alternative modes of reproduction, complementary to the sexual mode, are found across metazoans. The chordate Botryllus schlosseri is an emerging model for asexual development studies. Botryllus can rebuild its entire body from a portion of adult epithelia in a continuous and stereotyped process called blastogenesis. Anatomy and ontogenies of blastogenesis are well described, however molecular signatures triggering this developmental process are entirely unknown. We isolated tissues at the site of blastogenesis onset and from the same epithelia where this process is never triggered. We linearly amplified an ultra-low amount of mRNA (<10ng) and generated three transcriptome datasets. To provide a conservative landscape of transcripts differentially expressed between blastogenic vs. non-blastogenic epithelia we compared three different mapping and analysis strategies with a de novo assembled transcriptome and partially assembled genome as references, additionally a self-mapping strategy on the dataset. A subset of differentially expressed genes were analyzed and validated by in situ hybridization. The comparison of different analyses allowed us to isolate stringent sets of target genes, including transcripts with potential involvement in the onset of a non-embryonic developmental pathway. The results provide a good entry point to approach regenerative event in a basal chordate.This work was supported by AFM Telethon grant (#16611), IRG Marie Curie grant (#276974), ANR (ANR-14-CE02-0019-01) and IDEX Super (INDIBIO). L.R. was supported by an UPMC-EMREGENCE grant and by a FRM grant (#FDT20140931163). A.C. was supported by a FRM grant (ING 20140129231)
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