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Journal of Biomedical Informatics
is a flexible biomedical semantic knowledge-base It has the potential to perform a much better role as a large-scale biomedical semantic resource Tools are available to query, enrich, verify and process the biomedical knowledge Abstract: Created in October 2012, Wikidata is a large-scale, human-readable, machine-readable, multilingual, multidisciplinary, centralized, editable, structured, and linked knowledge-base with an increasing diversity of use cases. Here, we raise awareness of the potential use of Wikidata as a useful resource for biomedical data integration and semantic interoperability between biomedical computer systems. We show the data model and characteristics of Wikidata and explain how this database can be automatically processed by users as well as by computer methods and programs. Then, we give an overview of the medical entities and relations provided by the database and how they can be useful for various medical purposes such as clinical decision support
Journal of Biomedical Semantics
Background: Biological sciences are characterised not only by an increasing amount but also the extreme complexity of its data. This stresses the need for efficient ways of integrating these data in a coherent description of biological systems. In many cases, biological data needs organization before integration. This is not seldom a collaborative effort, and it is thus important that tools for data integration support a collaborative way of working. Wiki systems with support for structured semantic data authoring, such as Semantic MediaWiki, provide a powerful solution for collaborative editing of data combined with machine-readability, so that data can be handled in an automated fashion in any downstream analyses. Semantic MediaWiki lacks a built-in data import function though, which hinders efficient round-tripping of data between interoperable Semantic Web formats such as RDF and the internal wiki format. Results: To solve this deficiency, the RDFIO suite of tools is presented, which supports importing of RDF data into Semantic MediaWiki, with metadata needed to export it again in the same RDF format, or ontology. Additionally, the new functionality enables mash-ups of automated data imports combined with manually created data presentations. The application of the suite of tools is demonstrated by importing drug discovery related data about rare diseases from Orphanet and acid dissociation constants from Wikidata. The RDFIO suite of tools is freely available for download via pharmb.io/project/rdfio. Conclusions: Through a set of biomedical demonstrators, it is demonstrated how the new functionality enables a number of usage scenarios where the interoperability of SMW and the wider Semantic Web is leveraged for biomedical data sets, to create an easy to use and flexible platform for exploring and working with biomedical data.
AMIA Joint Summits on Translational Science proceedings AMIA Summit on Translational Science, 2010
Semantic interoperability among terminologies, data elements, and information models is fundamental and critical for sharing information from the scientific bench to the clinical bedside and back among systems. To meet this need, the vision for CDISC is to build a global, accessible electronic library, which enables precise and standardized data element definitions that can be used in applications and studies to improve biomedical research and its link with health care. As a pilot study, we propose a representation and harmonization framework for clinical study data elements and implement a prototype CDISC Shared Health and Research Electronic Library (CSHARE) using Semantic MediaWiki. We report the preliminary observations of how the components worked and the lessons learnt. In summary, the wiki provided a useful prototyping tool from a process standpoint.
Nucleic acids research, 2012
The Disease Ontology (DO) database (http:// disease-ontology.org) represents a comprehensive knowledge base of 8043 inherited, developmental and acquired human diseases (DO version 3, revision 2510). The DO web browser has been designed for speed, efficiency and robustness through the use of a graph database. Full-text contextual searching functionality using Lucene allows the querying of name, synonym, definition, DOID and cross-reference (xrefs) with complex Boolean search strings. The DO semantically integrates disease and medical vocabularies through extensive cross mapping and integration of MeSH, ICD, NCI's thesaurus, SNOMED CT and OMIM disease-specific terms and identifiers. The DO is utilized for disease annotation by major biomedical databases (e.g. Array Express, NIF, IEDB), as a standard representation of human disease in biomedical ontologies (e.g. IDO, Cell line ontology, NIFSTD ontology, Experimental Factor Ontology, Influenza Ontology), and as an ontological cross mappings resource between DO, MeSH and OMIM (e.g. GeneWiki). The DO project (http://diseaseontology.sf.net) has been incorporated into open source tools (e.g. Gene Answers, FunDO) to connect gene and disease biomedical data through the lens of human disease. The next iteration of the DO web browser will integrate DO's extended relations and logical definition representation along with these biomedical resource cross-mappings.
Proceedings of the 1st International Workshop on Open Source in European Health Care: The Time is Ripe, 2009
New ICT approaches promise better support to the traditional ways that medicine handles information. Exploring ways to provide this support, we formulated the principles of he MediGrid: (1) Data processed by biomedical algorithms are (following the philosophical tradition of phenomenology) indicators that can be transformed into other indicators. (2) Data and algorithms can be shared across conceptual domains if documented semantic links exist to support such interconnection. The need of explicit and detailed documentation of semantics leads to the requirement of good documentation of computer procedures that implement the biomedical knowledge contained in scientifically accepted algorithms. A proof-of-concept implementation of a system based on these principles has been published on Sourceforge.
…, 2012
The paper presents an infrastructure for supporting the semantic interoperability of biomedical resources based on the management (storing and inference-based querying) of their ontology-based annotations. This infrastructure consists of: (1) a repository to store and query ontology-based annotations; (2) a knowledge base server with an inference engine to support the storage of and reasoning over ontologies used in the annotation of resources; (3) a set of applications and services allowing interaction with the integrated repository and knowledge base. The infrastructure is being prototyped and developed and evaluated by the RICORDO project in support of the knowledge management of biomedical resources, including physiology and pharmacology models and associated clinical data. Availability and Implementation: The RICORDO toolkit and its source code are freely available from http://ricordo.eu/relevantresources.
2008
The meeting focused on uses of ontologies, with a special focus on spatial ontologies, in addressing the ever increasing needs faced by biology and medicine to cope with ever expanding quantities of data. To provide effective solutions computers need to integrate data deriving from myriad heterogeneous sources by bringing the data together within a single framework. The meeting brought together leaders in the field of what are called 'top-level ontologies' to address this issue, and to establish strategies among leaders in the field of biomedical ontology for the creation of interoperable biomedical ontologies which will serve the goal of useful data integration.
Briefings in Bioinformatics, 2013
Semantic web technologies offer an approach to data integration and sharing, even for resources developed independently or broadly distributed across the web. This approach is particularly suitable for scientific domains that profit from large amounts of data that reside in the public domain and that have to be exploited in combination.
Medical science monitor: international medical journal of experimental and clinical research
HealthCyberMap (http://healthcybermap.semanticweb.org/) aims at mapping Internet health information resources in novel ways for enhanced retrieval and navigation. This is achieved by collecting appropriate resource metadata in an unambiguous form that preserves semantics. We modelled a qualified Dublin Core (DC) metadata set ontology with extra elements for resource quality and geographical provenance in Prot g -2000. A metadata collection form helps acquiring resource instance data within Prot g . The DC subject field is populated with UMLS terms directly imported from UMLS Knowledge Source Server using UMLS tab, a Prot g -2000 plug-in. The project is saved in RDFS/RDF. The ontology and associated form serve as a free tool for building and maintaining an RDF medical resource metadata base. The UMLS tab enables browsing and searching for concepts that best describe a resource, and importing them to DC subject fields. The resultant metadata base can be used with a search and inference engine, and have textual and/or visual navigation interface(s) applied to it, to ultimately build a medical Semantic Web portal. Different ways of exploiting Prot g -2000 RDF output are discussed. By making the context and semantics of resources, not merely their raw text and formatting, amenable to computer 'understanding,' we can build a Semantic Web that is more useful to humans than the current Web. This requires proper use of metadata and ontologies. Clinical codes can reliably describe the subjects of medical resources, establish the semantic relationships (as defined by underlying coding scheme) between related resources, and automate their topical categorisation.
2008
Biomedical ontologies provide essential domain knowledge to drive data integration, information retrieval, data annotation, natural-language processing, and decision support. The National Center for Biomedical Ontology is developing BioPortal, a Web-based system that serves as a repository for biomedical ontologies. BioPortal defines relationships among those ontologies and between the ontologies and online data resources such as PubMed, ClinicalTrials.gov, and the Gene Expression Omnibus (GEO). BioPortal supports not only the technical requirements for access to biomedical ontologies either via Web browsers or via Web services, but also community-based participation in the evaluation and evolution of ontology content. BioPortal enables ontology users to learn what biomedical ontologies exist, what a particular ontology might be good for, and how individual ontologies relate to one another. BioPortal is available online at http://bioportal.bioontology.org.
2007
The paper introduces basic features of a novel ontology integration framework that explicitely takes the dynamics and data-intensiveness of many practical application scenarios into account. We motivate our research partially by the needs of bio-medicine scenarios that have been recently identified within the search for semantics-enabled solutions. In this context, we show a concrete example of the integration process in the life-sciences settings. Moreover, we elaborate a possible bio-medicine industry application domain of the presented framework and explain the benefits of the proposed semantic solution.
One of the main problems of biomedical informatics in the effort to increase its contribution in knowledge retrieval and decision making is the integration of ever-increasing amounts of information and data from multiple heterogeneous sources and domains-clinical, medical, biological etc. The paper proposes an ontology based approach for integration of biomedical data and information using the Linked Open Data vocabularies and a D2RQ-mapped database. A simple example of semantic integration of heterogeneous biomedical and health data sources is given.
2012
The National Center for Biomedical Ontology is now in its seventh year. The goals of this National Center for Biomedical Computing are to: create and maintain a repository of biomedical ontologies and terminologies; build tools and web services to enable the use of ontologies and terminologies in clinical and translational research; educate their trainees and the scientific community broadly about biomedical ontology and ontology-based technology and best practices; and collaborate with a variety of groups who develop and use ontologies and terminologies in biomedicine. The centerpiece of the National Center for Biomedical Ontology is a web-based resource known as BioPortal. BioPortal makes available for research in computationally useful forms more than 270 of the world's biomedical ontologies and terminologies, and supports a wide range of web services that enable investigators to use the ontologies to annotate and retrieve data, to generate value sets and special-purpose lexicons, and to perform advanced analytics on a wide range of biomedical data.
OMICS: A Journal of Integrative Biology, 2006
The National Center for Biomedical Ontology is a consortium that comprises leading informaticians, biologists, clinicians, and ontologists, funded by the National Institutes of Health (NIH) Roadmap, to develop innovative technology and methods that allow scientists to record, manage, and disseminate biomedical information and knowledge in machine-processable form. The goals of the Center are (1) to help unify the divergent and isolated efforts in ontology development by promoting high quality open-source, standards-based tools to create, manage, and use ontologies, (2) to create new software tools so that scientists can use ontologies to annotate and analyze biomedical data, (3) to provide a national resource for the ongoing evaluation, integration, and evolution of biomedical ontologies and associated tools and theories in the context of driving biomedical projects (DBPs), and (4) to disseminate the tools and resources of the Center and to identify, evaluate, and communicate best practices of ontology development to the biomedical community. Through the research activities within the Center, collaborations with the DBPs, and interactions with the biomedical community, our goal is to help scientists to work more effectively in the e-science paradigm, enhancing experiment design, experiment execution, data analysis, information synthesis, hypothesis generation and testing, and understand human disease. This paper is part of the special issue of OMICS on data standards.
npj digital medicine, 2019
The biomedical data landscape is fragmented with several isolated, heterogeneous data and knowledge sources, which use varying formats, syntaxes, schemas, and entity notations, existing on the Web. Biomedical researchers face severe logistical and technical challenges to query, integrate, analyze, and visualize data from multiple diverse sources in the context of available biomedical knowledge. Semantic Web technologies and Linked Data principles may aid toward Web-scale semantic processing and data integration in biomedicine. The biomedical research community has been one of the earliest adopters of these technologies and principles to publish data and knowledge on the Web as linked graphs and ontologies, hence creating the Life Sciences Linked Open Data (LSLOD) cloud. In this paper, we provide our perspective on some opportunities proffered by the use of LSLOD to integrate biomedical data and knowledge in three domains: (1) pharmacology, (2) cancer research, and (3) infectious diseases. We will discuss some of the major challenges that hinder the widespread use and consumption of LSLOD by the biomedical research community. Finally, we provide a few technical solutions and insights that can address these challenges. Eventually, LSLOD can enable the development of scalable, intelligent infrastructures that support artificial intelligence methods for augmenting human intelligence to achieve better clinical outcomes for patients, to enhance the quality of biomedical research, and to improve our understanding of living systems.
Journal of …, 2011
Background: Translational medicine requires the integration of knowledge using heterogeneous data from health care to the life sciences. Here, we describe a collaborative effort to produce a prototype Translational Medicine Knowledge Base (TMKB) capable of answering questions relating to clinical practice and pharmaceutical drug discovery.
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