vSPARQL: A View Definition Language for the Semantic Web

Translational medicine applications would like to leverage the biological and biomedical ontologies, vocabularies, and data sets available on the semantic web. We present a general solution for RDF information set reuse inspired by database views. Our view definition language, vSPARQL, allows applications to specify the exact content that they are interested in and how that content should be restructured or modified. Applications can access relevant content by querying against these view definitions. We evaluate the expressivity of our approach by defining views for practical use cases and comparing our view definition language to existing query languages

Knowledge Graph semantic enhancement of input data for improving AI

Intelligent systems designed using machine learning algorithms require a large number of labeled data. Background knowledge provides complementary, real world factual information that can augment the limited labeled data to train a machine learning algorithm. The term Knowledge Graph (KG) is in vogue as for many practical applications, it is convenient and useful to organize this background knowledge in the form of a graph. Recent academic research and implemented industrial intelligent systems have shown promising performance for machine learning algorithms that combine training data with a knowledge graph. In this article, we discuss the use of relevant KGs to enhance input data for two applications that use machine learning -- recommendation and community detection. The KG improves both accuracy and explainability

ONTOLOGY-BASED SYSTEM DEVELOPMENT FOR MEDICAL DATABASE ACCESS

Medical research is a complex multi-disciplinary task involving specialists from different fields and professions, not only medical professionals. Medical databases are structured by information technology experts, but the contents must be tailored to the medical field. When the medical staff defines the information they use, terminology from their particular field of expertise is employed. This leads to misunderstandings between the maintainers and developers of information technology solutions, and the users of those solutions. When the time comes that a user, who is a medical professional, requires very specific data from the database, the chance of obtaining the data incorrectly is very high. By defining specific concepts and relationships between the data, in an explicit shared specification, some of the above problems can be avoided. The developed ontology-based data access system, described in this paper, provides a tool to store, manage and use definitions of common terminology and their mappings to the database. It is also capable of reasoning about the relationships between terms and indicates inconsistencies of term definitions, if any are present. By defining these interconnected terms in the ontology and by working through the system, all experts and software tools, who use the data, are able to use and reuse these terms to obtain data in a reliable and predefined way. This paper discusses the development and implementation of the ontology-based data access system, the ontology describing the medical data and the data mapping system, linking data from the database to concepts and virtual ontology individuals

Advanced Knowledge Technologies at the Midterm: Tools and Methods for the Semantic Web

The University of Edinburgh and research sponsors are authorised to reproduce and distribute reprints and on-line copies for their purposes notwithstanding any copyright annotation hereon. The views and conclusions contained herein are the author’s and shouldn’t be interpreted as necessarily representing the official policies or endorsements, either expressed or implied, of other parties.In a celebrated essay on the new electronic media, Marshall McLuhan wrote in 1962:Our private senses are not closed systems but are endlessly translated into each other in that experience which we call consciousness. Our extended senses, tools, technologies, through the ages, have been closed systems incapable of interplay or collective awareness. Now, in the electric age, the very instantaneous nature of co-existence among our technological instruments has created a crisis quite new in human history. Our extended faculties and senses now constitute a single field of experience which demands that they become collectively conscious. Our technologies, like our private senses, now demand an interplay and ratio that makes rational co-existence possible. As long as our technologies were as slow as the wheel or the alphabet or money, the fact that they were separate, closed systems was socially and psychically supportable. This is not true now when sight and sound and movement are simultaneous and global in extent. (McLuhan 1962, p.5, emphasis in original)Over forty years later, the seamless interplay that McLuhan demanded between our technologies is still barely visible. McLuhan’s predictions of the spread, and increased importance, of electronic media have of course been borne out, and the worlds of business, science and knowledge storage and transfer have been revolutionised. Yet the integration of electronic systems as open systems remains in its infancy.Advanced Knowledge Technologies (AKT) aims to address this problem, to create a view of knowledge and its management across its lifecycle, to research and create the services and technologies that such unification will require. Half way through its sixyear span, the results are beginning to come through, and this paper will explore some of the services, technologies and methodologies that have been developed. We hope to give a sense in this paper of the potential for the next three years, to discuss the insights and lessons learnt in the first phase of the project, to articulate the challenges and issues that remain.The WWW provided the original context that made the AKT approach to knowledge management (KM) possible. AKT was initially proposed in 1999, it brought together an interdisciplinary consortium with the technological breadth and complementarity to create the conditions for a unified approach to knowledge across its lifecycle. The combination of this expertise, and the time and space afforded the consortium by the IRC structure, suggested the opportunity for a concerted effort to develop an approach to advanced knowledge technologies, based on the WWW as a basic infrastructure.The technological context of AKT altered for the better in the short period between the development of the proposal and the beginning of the project itself with the development of the semantic web (SW), which foresaw much more intelligent manipulation and querying of knowledge. The opportunities that the SW provided for e.g., more intelligent retrieval, put AKT in the centre of information technology innovation and knowledge management services; the AKT skill set would clearly be central for the exploitation of those opportunities.The SW, as an extension of the WWW, provides an interesting set of constraints to the knowledge management services AKT tries to provide. As a medium for the semantically-informed coordination of information, it has suggested a number of ways in which the objectives of AKT can be achieved, most obviously through the provision of knowledge management services delivered over the web as opposed to the creation and provision of technologies to manage knowledge.AKT is working on the assumption that many web services will be developed and provided for users. The KM problem in the near future will be one of deciding which services are needed and of coordinating them. Many of these services will be largely or entirely legacies of the WWW, and so the capabilities of the services will vary. As well as providing useful KM services in their own right, AKT will be aiming to exploit this opportunity, by reasoning over services, brokering between them, and providing essential meta-services for SW knowledge service management.Ontologies will be a crucial tool for the SW. The AKT consortium brings a lot of expertise on ontologies together, and ontologies were always going to be a key part of the strategy. All kinds of knowledge sharing and transfer activities will be mediated by ontologies, and ontology management will be an important enabling task. Different applications will need to cope with inconsistent ontologies, or with the problems that will follow the automatic creation of ontologies (e.g. merging of pre-existing ontologies to create a third). Ontology mapping, and the elimination of conflicts of reference, will be important tasks. All of these issues are discussed along with our proposed technologies.Similarly, specifications of tasks will be used for the deployment of knowledge services over the SW, but in general it cannot be expected that in the medium term there will be standards for task (or service) specifications. The brokering metaservices that are envisaged will have to deal with this heterogeneity.The emerging picture of the SW is one of great opportunity but it will not be a wellordered, certain or consistent environment. It will comprise many repositories of legacy data, outdated and inconsistent stores, and requirements for common understandings across divergent formalisms. There is clearly a role for standards to play to bring much of this context together; AKT is playing a significant role in these efforts. But standards take time to emerge, they take political power to enforce, and they have been known to stifle innovation (in the short term). AKT is keen to understand the balance between principled inference and statistical processing of web content. Logical inference on the Web is tough. Complex queries using traditional AI inference methods bring most distributed computer systems to their knees. Do we set up semantically well-behaved areas of the Web? Is any part of the Web in which semantic hygiene prevails interesting enough to reason in? These and many other questions need to be addressed if we are to provide effective knowledge technologies for our content on the web

LinkHub: a Semantic Web system that facilitates cross-database queries and information retrieval in proteomics

<p>Abstract</p> <p>Background</p> <p>A key abstraction in representing proteomics knowledge is the notion of unique identifiers for individual entities (e.g. proteins) and the massive graph of relationships among them. These relationships are sometimes simple (e.g. synonyms) but are often more complex (e.g. one-to-many relationships in protein family membership).</p> <p>Results</p> <p>We have built a software system called LinkHub using Semantic Web RDF that manages the graph of identifier relationships and allows exploration with a variety of interfaces. For efficiency, we also provide relational-database access and translation between the relational and RDF versions. LinkHub is practically useful in creating small, local hubs on common topics and then connecting these to major portals in a federated architecture; we have used LinkHub to establish such a relationship between UniProt and the North East Structural Genomics Consortium. LinkHub also facilitates queries and access to information and documents related to identifiers spread across multiple databases, acting as "connecting glue" between different identifier spaces. We demonstrate this with example queries discovering "interologs" of yeast protein interactions in the worm and exploring the relationship between gene essentiality and pseudogene content. We also show how "protein family based" retrieval of documents can be achieved. LinkHub is available at hub.gersteinlab.org and hub.nesg.org with supplement, database models and full-source code.</p> <p>Conclusion</p> <p>LinkHub leverages Semantic Web standards-based integrated data to provide novel information retrieval to identifier-related documents through relational graph queries, simplifies and manages connections to major hubs such as UniProt, and provides useful interactive and query interfaces for exploring the integrated data.</p

Personalized learning paths based on Wikipedia article statistics

We propose a new semi-automated method for generating personalized learning paths from the Wikipediaonline encyclopedia by following inter-article hyperlink chains based on various rankings that are retrieved from the statistics of the articles. Alternative perspectives for learning topics are achieved when the next hyperlink to access is selected based on hierarchy of hyperlinks, repetition of hyperlink terms, article size, viewing rate, editing rate, or user-defined weighted mixture of them all. We have implemented the method in a prototype enabling the learner to build independently concept maps following her needs and consideration. A list of related concepts is shown in a desired type of ranking to label new nodes (titles of target articles for current hyperlinks) accompanied with parsed explanation phrases from the sentences surrounding each hyperlink to label directed arcs connecting nodes. In experiments the alternative ranking schemes well supported various learning needs suggesting new pedagogical networking practices.Peer reviewe

Efficient pruning of large knowledge graphs

In this paper we present an efficient and highly accurate algorithm to prune noisy or over-ambiguous knowledge graphs given as input an extensional definition of a domain of interest, namely as a set of instances or concepts. Our method climbs the graph in a bottom-up fashion, iteratively layering the graph and pruning nodes and edges in each layer while not compromising the connectivity of the set of input nodes. Iterative layering and protection of pre-defined nodes allow to extract semantically coherent DAG structures from noisy or over-ambiguous cyclic graphs, without loss of information and without incurring in computational bottlenecks, which are the main problem of stateof- the-art methods for cleaning large, i.e., Webscale, knowledge graphs. We apply our algorithm to the tasks of pruning automatically acquired taxonomies using benchmarking data from a SemEval evaluation exercise, as well as the extraction of a domain-adapted taxonomy from theWikipedia category hierarchy. The results show the superiority of our approach over state-of-art algorithms in terms of both output quality and computational efficiency

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven’t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics