Open semantic annotation of scientific publications using DOMEO

<p>Abstract</p> <p>Background</p> <p>Our group has developed a useful shared software framework for performing, versioning, sharing and viewing Web annotations of a number of kinds, using an open representation model.</p> <p>Methods</p> <p>The Domeo Annotation Tool was developed in tandem with this open model, the Annotation Ontology (AO). Development of both the Annotation Framework and the open model was driven by requirements of several different types of alpha users, including bench scientists and biomedical curators from university research labs, online scientific communities, publishing and pharmaceutical companies.</p> <p>Several use cases were incrementally implemented by the toolkit. These use cases in biomedical communications include personal note-taking, group document annotation, semantic tagging, claim-evidence-context extraction, reagent tagging, and curation of textmining results from entity extraction algorithms.</p> <p>Results</p> <p>We report on the Domeo user interface here. Domeo has been deployed in beta release as part of the NIH Neuroscience Information Framework (NIF, <url>http://www.neuinfo.org</url><it/>) and is scheduled for production deployment in the NIF’s next full release.</p> <p>Future papers will describe other aspects of this work in detail, including Annotation Framework Services and components for integrating with external textmining services, such as the NCBO Annotator web service, and with other textmining applications using the Apache UIMA framework.</p

AgroPortal : a proposition for ontology-based services in the agronomic domain

Our project is to develop and support a reference ontology repository for the agronomic domain. By reusing the NCBO BioPortal technology, we have already designed and implemented a prototype ontology repository for plants and a few crops. We plan to turn that prototype into a real service to the community. The AgroPortal project aims at reusing the scientific outcomes and experience of the biomedical domain in the context of plant, agronomic and environment sciences. We will offer an ontology portal which features ontology hosting, search, versioning, visualization, comment, but we will also offer services for semantically annotating data with the ontologies, as well as storing and exploiting ontology alignments and data annotations. All of these within a fully semantic web compliant infrastructure. The main objective of this project is to enable straightforward use of agronomic related ontologies, avoiding data managers and researchers the burden to deal with complex knowledge engineering issues to annotate the research data. The AgroPortal project will specifically pay attention to respect the requirements of the agronomic community and the specificities of the crop domain. We will first focus on the outputs of a few existing driving agronomic use cases related to rice and wheat, with the goal of generalizing to other Crop Ontology related use cases. AgroPortal will offer a robust and stable platform that we anticipate will be highly valued by the community

Expertise Profiling in Evolving Knowledgecuration Platforms

Expertise modeling has been the subject of extensiveresearch in two main disciplines: Information Retrieval (IR) andSocial Network Analysis (SNA). Both IR and SNA approachesbuild the expertise model through a document-centric approachproviding a macro-perspective on the knowledge emerging fromlarge corpus of static documents. With the emergence of the Webof Data there has been a significant shift from static to evolvingdocuments, through micro-contributions. Thus, the existingmacro-perspective is no longer sufficient to track the evolution ofboth knowledge and expertise. In this paper we present acomprehensive, domain-agnostic model for expertise profiling inthe context of dynamic, living documents and evolving knowledgebases. We showcase its application in the biomedical domain andanalyze its performance using two manually created datasets

Reusing the NCBO BioPortal technology for agronomy to build AgroPortal

Many vocabularies and ontologies are produced to represent and annotate agronomic data. By reusing the NCBO BioPortal technology, we have already designed and implemented an advanced prototype ontology repository for the agronomy domain. We plan to turn that prototype into a real service to the community. The AgroPortal project aims at reusing the scientific outcomes and experience of the biomedical domain in the context of plant, agronomic, food, environment (perhaps animal) sciences. We offer an ontology portal which features ontology hosting, search, versioning, visualization, comment, recommendation, enables semantic annotation, as well as storing and exploiting ontology alignments. All of these within a fully semantic web compliant infrastructure. The AgroPortal specifically pays attention to respect the requirements of the agronomic community in terms of ontology formats (e.g., SKOS, trait dictionaries) or supported features. In this paper, we present our prototype as well as preliminary outputs of four driving agronomic use cases. With the experience acquired in the biomedical domain and building atop of an already existing technology, we think that AgroPortal offers a robust and stable reference repository that will become highly valuable for the agronomic domain

SIFR BioPortal : Un portail ouvert et générique d’ontologies et de terminologies biomédicales françaises au service de l’annotation sémantique

National audienceContexte – Le volume de données en biomédecine ne cesse de croître. En dépit d'une large adoption de l'anglais, une quantité significative de ces données est en français. Dans le do-maine de l’intégration de données, les terminologies et les ontologies jouent un rôle central pour structurer les données biomédicales et les rendre interopérables. Cependant, outre l'existence de nombreuses ressources en anglais, il y a beaucoup moins d'ontologies en français et il manque crucialement d'outils et de services pour les exploiter. Cette lacune contraste avec le montant considérable de données biomédicales produites en français, par-ticulièrement dans le monde clinique (e.g., dossiers médicaux électroniques). Methode & Résultats – Dans cet article, nous présentons certains résultats du projet In-dexation sémantique de ressources biomédicales francophones (SIFR), en particulier le SIFR BioPortal, une plateforme ouverte et générique pour l’hébergement d’ontologies et de terminologies biomédicales françaises, basée sur la technologie du National Center for Biomedical Ontology. Le portail facilite l’usage et la diffusion des ontologies du domaine en offrant un ensemble de services (recherche, alignements, métadonnées, versionnement, vi-sualisation, recommandation) y inclus pour l’annotation sémantique. En effet, le SIFR An-notator est un outil d’annotation basé sur les ontologies pour traiter des données textuelles en français. Une évaluation préliminaire, montre que le service web obtient des résultats équivalents à ceux reportés précedement, tout en étant public, fonctionnel et tourné vers les standards du web sémantique. Nous présentons également de nouvelles fonctionnalités pour les services à base d’ontologies pour l’anglais et le français

Semantic annotation of clinical questionnaires to support personalized medicine

Tese de Mestrado, Bioinformática e Biologia Computacional, 2022, Universidade de Lisboa, Faculdade de CiênciasAtualmente estamos numa era global de constante evolução tecnológica, e uma das áreas que têm beneficiado com isso é a medicina, uma vez que com integração da vertente tecnológica na medicina, tem vindo a ter um papel cada vez mais importante quer do ponto de vista dos médicos quer do ponto de vista dos pacientes. Como resultado de melhores ferramentas que permitam melhorar o exercício das funções dos médicos, estão se a criar condições para que os pacientes possam ter um melhor acompanhamento, entendimento e atualização em tempo real da sua condição clínica. O setor dos Cuidados de Saúde é responsável pelas novidades que surgem quase diariamente e que permitem melhorar a experiência do paciente e o modo como os médicos podem tirar proveito da informação que os dados contêm em prol de uma validação mais célere e eficaz. Este setor tem gerado um volume cada vez mais maciço de dados, entre os quais relatórios médicos, registos de sensores inerciais, gravações de consultas, imagens, vídeos e avaliações médicas nas quais se inserem os questionários e as escalas clínicas que prometem aos pacientes um melhor acompanhamento do seu estado de saúde, no entanto o seu enorme volume, distribuição e a grande heterogeneidade dificulta o processamento e análise. A integração deste tipo de dados é um desafio, uma vez que têm origens em diversas fontes e uma heterogeneidade semântica bastante significativa; a integração semântica de dados biomédicos resulta num desenvolvimento de uma rede semântica biomédica que relaciona conceitos entre diversas fontes o que facilita a tradução de descobertas científicas ajudando na elaboração de análises e conclusões mais complexas para isso é crucial que se atinja a interoperabilidade semântica dos dados. Este é um passo muito importante que permite a interação entre diferentes conjuntos de dados clínicos dentro do mesmo sistema de informação ou entre sistemas diferentes. Esta integração permite às ferramentas de análise e interface com os dados trabalhar sobre uma visão integrada e holística dos dados, o que em última análise permite aos clínicos um acompanhamento mais detalhado e personalizado dos seus pacientes. Esta dissertação foi desenvolvida no LASIGE e em colaboração com o Campus Neurológico Sénior e faz parte de um grande projeto que explora o fornecimento de mais e melhores dados tanto a clínicos como a pacientes. A base deste projeto assenta numa aplicação web, o DataPark que possui uma plataforma que permite ao utilizador navegar por áreas clinicas entre as quais a nutrição, fisioterapia, terapia ocupacional, terapia da fala e neuropsicologia, em que cada uma delas que alberga baterias de testes com diversos questionários e escalas clínicas de avaliação. Este tipo de avaliação clínica facilita imenso o trabalho do médico uma vez que permite que sejam implementadas à distância uma vez que o paciente pode responder remotamente, estas respostas ficam guardadas no DataPark permitindo ao médico fazer um rastreamento do status do paciente ao longo do tempo em relação a uma determinada escala. No entanto o modo como o DataPark foi desenvolvido limita uma visão do médico orientada ao questionário, ou seja o médico que acompanha o paciente quando quer ter a visão do mesmo como um todo tem esta informação espalhada e dividida por estes diferentes questionários e tem de os ir ver a todos um a um para ter a noção do status do paciente. Esta dissertação pretende fazer face a este desafio construindo um algoritmo que decomponha todas as perguntas dos diferentes questionários e permita a sua integração semântica. Isto com o objectivo de permitir ao médico ter um visão holística orientada por conceito clínico. Procedeu-se então à extração de toda a base de dados presente no DataPark, sendo esta a fonte de dados sobre a qual este trabalho se baseou, frisando que originalmente existem muitos dados em Português que terão de ser traduzidos automaticamente. Com uma análise de alto nível (numa fase inicial) sobre os questionários da base de dados, iniciou-se a construção de um modelo semântico que pudesse descrever os dados presentes nos questionários e escalas. Assim de uma forma manual foi feito um levantamento de todos os conceitos clínicos que se conseguiu identificar num sub conjunto de questionários, mais concretamente 15 com os 5 mais respondidos em relação à Doença de parkinson, os 5 mais respondidos em relação à doença de AVC e os 5 mais respondidos que não estejam associados a uma única patologia em específico. Este modelo foi melhorado e evoluiu em conjunto com uma equipa de 12 médicos e terapeutas do CNS ao longo de 7 reuniões durante as quais foi levado a cabo um workshop de validação que permitiu dotar o modelo construído de uma fiabilidade elevada. Em paralelo procedeu-se à elaboração de 2 estudo: (i) um estudo que consistia em avaliar com qual ou quais ontologias se obtém a maior cobertura dos dados do sub conjunto de 15 questionários. A conclusão a que se chegou foi que o conjunto de ontologias que nos conferia mais segurança é constituído pelas ontologias LOINC, NCIT, SNOMED e OCHV, conjunto esse foi utilizado daqui em diante; (ii) outro estudo procurou aferir qual a ferramenta de tradução automática(Google Translator ou Microsoft Translator) que confere uma segurança maior, para isso procedeu-se à tradução completa de 3 questionários que apesar de estar na base de dados no idioma português, tem a sua versão original em inglês. Isto permitiu-nos traduzir estes 3 questionários de português para inglês e avaliar em qual das duas ferramentas se obteve uma melhor performance. O Microsoft Translator apresentou com uma diferença pequena um desempenho superior, sendo portanto a ferramenta de tradução automática escolhida para integrar o nosso algoritmo. Concluídos estes 2 estudos temos assim o conjunto de dados uniformizado numa só linguagem, e o conjunto de ontologias escolhidas para a anotação semântica. Para entender esta fase do trabalho há que entender que ontologias são poderosas ferramentas computacionais que consistem num conjunto de conceitos ou termos, que nomeiam e definem as entidades presentes num certo domínio de interesse, no ramo da biomedicina são designadas por ontologias biomédicas. O uso de ontologias biomédicas confere uma grande utilidade na partilha, recuperação e na extração de informação na biomedicina tendo um papel crucial para a interoperabilidade semântica que é exatamente o nosso objectivo final. Assim sendo procedeu-se à anotação semântica das questões do sub-conjunto de 15 questionários, uma anotação semântica é um processo que associa formalmente o alvo textual a um conceito/termo, podendo estabelecer desta forma pontes entre documentos/texto-alvos diferentes que abordam o mesmo conceito. Ou seja, uma anotação semântica é associar um termo de uma determinada ontologia a um conceito presente no texto alvo. Imaginando que o texto alvo são diferentes perguntas de vários questionários, é natural encontrar diferentes questões de diferentes áreas de diagnóstico que estejam conectados por termos ontológicos em comum. Depois da anotação completada é feita a integração do modelo semântico, com o algoritmo desenvolvido com o conjunto de ontologias e ainda com os dados dos pacientes. Desta forma sabemos que um determinado paciente respondeu a várias perguntas que abordam um mesmo conceito, essas perguntas estão interligadas semanticamente uma vez que têm o mesmo conceito mapeado. A nível de performance geral tanto os processos tradução como de anotação tiveram um desempenho aceitável, onde a nivel de tradução se atingiu 78% accuracy, 76% recall e uma F-mesure de 0.77 e ao nível da performance de anotação obteve-se 87% de anotações bem conseguidas. Portanto num cômputo geral consegue-se atingir o principal objectivo que era a obtenção holística integrada com o modelo semântico e os dados do DataPark(Questionários e pacientes).Healthcare is a multi-domain area, with professionals from different areas often collaborating to provide patients with the best possible care. Neurological and neurodegenerative diseases are especially so, with multiple areas, including neurology, psychology, nursing, physical therapy, speech therapy and others coming together to support these patients. The DataPark application allows healthcare providers to store, manage and analyse information about patients with neurological disorders from different perspectives including evaluation scales and questionnaires. However, the application does not provide a holistic view of the patient status because it is split across different domains and clinical scales. This work proposes a methodology for the semantic integration of this data. It developed the data scaffolding to afford a holistic view of the patient status that is concept-oriented rather than scale or test battery oriented. A semantic model was developed in collaboration with healthcare providers from different areas, which was subsequently aligned with existing biomedical ontologies. The questionnaire and scale data was semantically annotated to this semantic model, with a translation step when the original data was in Portuguese. The process was applied to a subset of 15 scales with a manual evaluation of each process. The semantic model includes 204 concepts and 436 links to external ontologies. Translation achieved an accuracy of 78%, whereas the semantic annotation achieved 87%. The final integrated dataset covers 443 patients. Finally, applying the process of semantic annotation to the whole dataset, conditions are created for the process of semantic integration to occur, this process consists in crossing all questions from different questionnaires and establishing a connection between those that contain the same annotation. This work allows healthcare providers to assess patients in a more global fashion, integrating data collected from different scales and test batteries that evaluate the same or similar parameters

Establishing a distributed system for the simple representation and integration of diverse scientific assertions

<p>Abstract</p> <p>Background</p> <p>Information technology has the potential to increase the pace of scientific progress by helping researchers in formulating, publishing and finding information. There are numerous projects that employ ontologies and Semantic Web technologies towards this goal. However, the number of applications that have found widespread use among biomedical researchers is still surprisingly small. In this paper we present the aTag (‘associative tags’) convention, which aims to drastically lower the entry barriers to the biomedical Semantic Web. aTags are short snippets of HTML+RDFa with embedded RDF/OWL based on the Semantically Interlinked Online Communities (SIOC) vocabulary and domain ontologies and taxonomies, such as the Open Biomedical Ontologies and DBpedia. The structure of aTags is very simple: a short piece of human-readable text that is ‘tagged’ with relevant ontological entities. This paper describes our efforts for seeding the creation of a viable ecosystem of datasets, tools and services around aTags.</p> <p>Results</p> <p>Numerous biomedical datasets in aTag format and systems for the creation of aTags have been set-up and are described in this paper. Prototypes of some of these systems are accessible at <url>http://hcls.deri.org/atag</url></p> <p>Conclusions</p> <p>The aTags convention enables the rapid development of diverse, integrated datasets and semantically interoperable applications. More work needs to be done to study the practicability of this approach in different use-case scenarios, and to encourage uptake of the convention by other groups.</p

The role of ontologies in biological and biomedical research: a functional perspective.

Ontologies are widely used in biological and biomedical research. Their success lies in their combination of four main features present in almost all ontologies: provision of standard identifiers for classes and relations that represent the phenomena within a domain; provision of a vocabulary for a domain; provision of metadata that describes the intended meaning of the classes and relations in ontologies; and the provision of machine-readable axioms and definitions that enable computational access to some aspects of the meaning of classes and relations. While each of these features enables applications that facilitate data integration, data access and analysis, a great potential lies in the possibility of combining these four features to support integrative analysis and interpretation of multimodal data. Here, we provide a functional perspective on ontologies in biology and biomedicine, focusing on what ontologies can do and describing how they can be used in support of integrative research. We also outline perspectives for using ontologies in data-driven science, in particular their application in structured data mining and machine learning applications.This is the final version of the article. It first appeared from Oxford University Press via http://dx.doi.org/10.1093/bib/bbv01

Linking patient data to scientific knowledge to support contextualized mining

Tese de mestrado, Bioinformática e Biologia Computacional, Universidade de Lisboa, Faculdade de Ciências, 2022ICU readmissions are a critical problem associated with either serious conditions, ill nesses, or complications, representing a 4 times increase in mortality risk and a financial burden to health institutions. In developed countries 1 in every 10 patients discharged comes back to the ICU. As hospitals become more and more data-oriented with the adop tion of Electronic Health Records (EHR), there as been a rise in the development of com putational approaches to support clinical decision. In recent years new efforts emerged, using machine learning approaches to make ICU readmission predictions directly over EHR data. Despite these growing efforts, machine learning approaches still explore EHR data directly without taking into account its mean ing or context. Medical knowledge is not accessible to these methods, who work blindly over the data, without considering the meaning and relationships the data objects. Ontolo gies and knowledge graphs can help bridge this gap between data and scientific context, since they are computational artefacts that represent the entities in a domain and how the relate to each other in a formalized fashion. This opportunity motivated the aim of this work: to investigate how enriching EHR data with ontology-based semantic annotations and applying machine learning techniques that explore them can impact the prediction of 30-day ICU readmission risk. To achieve this, a number of contributions were developed, including: (1) An enrichment of the MIMIC-III data set with annotations to several biomedical ontologies; (2) A novel ap proach to predict ICU readmission risk that explores knowledge graph embeddings to represent patient data taking into account the semantic annotations; (3) A variant of the predictive approach that targets different moments to support risk prediction throughout the ICU stay. The predictive approaches outperformed both state-of-the-art and a baseline achieving a ROC-AUC of 0.815 (an increase of 0.2 over the state of the art). The positive results achieved motivated the development of an entrepreneurial project, which placed in the Top 5 of the H-INNOVA 2021 entrepreneurship award

Harnessing the power of unified metadata in an ontology repository: The case of AgroPortal

As any resources, ontologies, thesaurus, vocabularies and terminologies need to be described with relevant metadata to facilitate their identification, selection and reuse. For ontologies to be FAIR, there is a need for metadata authoring guidelines and for harmonization of existing metadata vocabularies—taken independently none of them can completely describe an ontology. Ontology libraries and repositories also have to play an important role. Indeed, some metadata properties are intrinsic to the ontology (name, license, description); other information, such as community feedbacks or relations to other ontologies are typically information that an ontology library shall capture, populate and consolidate to facilitate the processes of identifying and selecting the right ontology(ies) to use. We have studied ontology metadata practices by: (1) analyzing metadata annotations of 805 ontologies; (2) reviewing the most standard and relevant vocabularies (23 totals) currently available to describe metadata for ontologies (such as Dublin Core, Ontology Metadata Vocabulary, VoID, etc.); (3) comparing different metadata implementation in multiple ontology libraries or repositories. We have then built a new metadata model for our AgroPortal vocabulary and ontology repository, a platform dedicated to agronomy based on the NCBO BioPortal technology. AgroPortal now recognizes 346 properties from existing metadata vocabularies that could be used to describe different aspects of ontologies: intrinsic descriptions, people, date, relations, content, metrics, community, administration, and access. We use them to populate an internal model of 127 properties implemented in the portal and harmonized for all the ontologies. We—and AgroPortal's users—have spent a significant amount of time to edit and curate the metadata of the ontologies to offer a better synthetized and harmonized information and enable new ontology identification features. Our goal was also to facilitate the comprehension of the agronomical ontology landscape by displaying diagrams and charts about all the ontologies on the portal. We have evaluated our work with a user appreciation survey which confirms the new features are indeed relevant and helpful to ease the processes of identification and selection of ontologies. This paper presents how to harness the potential of a complete and unified metadata model with dedicated features in an ontology repository; however, the new AgroPortal's model is not a new vocabulary as it relies on preexisting ones. A generalization of this work is studied in a community-driven standardization effort in the context of the RDA Vocabulary and Semantic Services Interest Group