SNOMED CT standard ontology based on the ontology for general medical science

Background: Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT, hereafter abbreviated SCT) is acomprehensive medical terminology used for standardizing the storage, retrieval, and exchange of electronic healthdata. Some efforts have been made to capture the contents of SCT as Web Ontology Language (OWL), but theseefforts have been hampered by the size and complexity of SCT. Method: Our proposal here is to develop an upper-level ontology and to use it as the basis for defining the termsin SCT in a way that will support quality assurance of SCT, for example, by allowing consistency checks ofdefinitions and the identification and elimination of redundancies in the SCT vocabulary. Our proposed upper-levelSCT ontology (SCTO) is based on the Ontology for General Medical Science (OGMS). Results: The SCTO is implemented in OWL 2, to support automatic inference and consistency checking. Theapproach will allow integration of SCT data with data annotated using Open Biomedical Ontologies (OBO) Foundryontologies, since the use of OGMS will ensure consistency with the Basic Formal Ontology, which is the top-levelontology of the OBO Foundry. Currently, the SCTO contains 304 classes, 28 properties, 2400 axioms, and 1555annotations. It is publicly available through the bioportal athttp://bioportal.bioontology.org/ontologies/SCTO/. Conclusion: The resulting ontology can enhance the semantics of clinical decision support systems and semanticinteroperability among distributed electronic health records. In addition, the populated ontology can be used forthe automation of mobile health applications

Reasoning & Querying – State of the Art

Various query languages for Web and Semantic Web data, both for practical use and as an area of research in the scientific community, have emerged in recent years. At the same time, the broad adoption of the internet where keyword search is used in many applications, e.g. search engines, has familiarized casual users with using keyword queries to retrieve information on the internet. Unlike this easy-to-use querying, traditional query languages require knowledge of the language itself as well as of the data to be queried. Keyword-based query languages for XML and RDF bridge the gap between the two, aiming at enabling simple querying of semi-structured data, which is relevant e.g. in the context of the emerging Semantic Web. This article presents an overview of the field of keyword querying for XML and RDF

Gerando redes de conhecimento a partir de descrições de fenótipos

Orientadores: André Santanchè, Júlio César dos ReisDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de ComputaçãoResumo: Diversos sistemas computacionais usam informações sobre seres vivos, tais como chaves de identificação ¿ artefatos criados por biólogos para identificar espécimes de seres vivos seguindo uma cadeia de questões acerca das suas características observáveis (fenótipos). Tais questões estão em formato de texto livre, por exemplo, "Possui olhos grandes e pre- tos". Contudo, texto livre dificulta a interpretação de informação por máquinas, limitando sua capacidade de realização de tarefas de busca, integração e comparação de termos. Esta dissertação propõe um método para extrair informação a respeito de fenótipos a partir de textos escritos em linguagem natural, colocando-os no formato de Entidade-Qualidade ¿ um formato de dados biológicos para representar estruturas anatômicas (Entidade) e o seu modificador (Qualidade). A proposta permite que Entidades e Qualidades, reconhecidas automaticamente a partir de informação do nível textual, sejam relacionadas com con- ceitos presentes em ontologias de domínio. Ela adota ferramentas de Processamento de Linguagem Natural existentes, bem como contribui com novas técnicas que exploram as características de escrita e estruturação implícitas em textos presentes nas chaves de iden- tificação. A abordagem foi validada utilizando os dados da base FishBase, sobre a qual foram conduzidos experimentos explorando um conjunto de testes anotado manualmente para avaliar a precisão e aplicabilidade do método de extração proposto. Os resultados obtidos mostram os benefícios da técnica e possibilidades de estudos científicos utilizando a rede de conhecimento extraídaAbstract: Several computing systems rely on information about living beings, such as identification keys ¿ artifacts created by biologists to identify specimens following a flow of questions about their observable characters (phenotype). These questions are described in a free- text format, e.g., "big and black eye". Free-texts hamper the automatic information interpretation by machines, limiting their ability to perform search and comparison of terms, as well as integration tasks. This thesis proposes a method to extract phenotypic information from natural language texts from biology legacy information systems, trans- forming them in an Entity-Quality formalism ¿ a format to represent each phenotype character (Entity) and its state (Quality). Our approach aligns automatically recognized Entities and Qualities with domain concepts described in ontologies. It adopts existing Natural Language Processing techniques, adding an extra original step, which exploits intrinsic characteristics of phenotypic descriptions and of the organizational structure of identification keys. The approach was validated over the FishBase data. We conducted extensive experiments based on a manually annotated Gold Standard set to assess the precision and applicability of the proposed extraction method. The obtained results re- veal the feasibility of our technique, its benefits and possibilities of scientific studies using the extracted knowledge networkMestradoCiência da ComputaçãoMestre em Ciência da Computação1406900CAPE

Enhancing Recommendations in Specialist Search Through Semantic-based Techniques and Multiple Resources

Information resources abound on the Internet, but mining these resources is a non-trivial task. Such abundance has raised the need to enhance services provided to users, such as recommendations. The purpose of this work is to explore how better recommendations can be provided to specialists in specific domains such as bioinformatics by introducing semantic techniques that reason through different resources and using specialist search techniques. Such techniques exploit semantic relations and hidden associations that occur as a result of the information overlapping among various concepts in multiple bioinformatics resources such as ontologies, websites and corpora. Thus, this work introduces a new method that reasons over different bioinformatics resources and then discovers and exploits different relations and information that may not exist in the original resources. Such relations may be discovered as a consequence of the information overlapping, such as the sibling and semantic similarity relations, to enhance the accuracy of the recommendations provided on bioinformatics content (e.g. articles). In addition, this research introduces a set of semantic rules that are able to extract different semantic information and relations inferred among various bioinformatics resources. This project introduces these semantic-based methods as part of a recommendation service within a content-based system. Moreover, it uses specialists' interests to enhance the provided recommendations by employing a method that is collecting user data implicitly. Then, it represents the data as adaptive ontological user profiles for each user based on his/her preferences, which contributes to more accurate recommendations provided to each specialist in the field of bioinformatics