Using SPARQL – the practitioners’ viewpoint

A number of studies have analyzed SPARQL log data to draw conclusions about how SPARQL is being used. To complement this work, a survey of SPARQL users has been undertaken. Whilst confirming some of the conclusions of the previous studies, the current work is able to provide additional insight into how users create SPARQL queries, the difficulties they encounter, and the features they would like to see included in the language. Based on this insight, a number of recommendations are presented to the community. These relate to predicting and avoiding computationally expensive queries; extensions to the language; and extending the search paradigm

The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and bedside

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. Results: We developed the Translational Medicine Ontology (TMO) as a unifying ontology to integrate chemical, genomic and proteomic data with disease, treatment, and electronic health records. We demonstrate the use of Semantic Web technologies in the integration of patient and biomedical data, and reveal how such a knowledge base can aid physicians in providing tailored patient care and facilitate the recruitment of patients into active clinical trials. Thus, patients, physicians and researchers may explore the knowledge base to better understand therapeutic options, efficacy, and mechanisms of action. Conclusions: This work takes an important step in using Semantic Web technologies to facilitate integration of relevant, distributed, external sources and progress towards a computational platform to support personalized medicine. Availability: TMO can be downloaded from http://code.google.com/p/translationalmedicineontology and TMKB can be accessed at http://tm.semanticscience.org/sparql

Enabling Complex Semantic Queries to Bioinformatics Databases through Intuitive Search Over Data

Data integration promises to be one of the main catalysts in enabling new insights to be drawn from the wealth of biological data already available publicly. However, the heterogene- ity of the existing data sources still poses significant challenges for achieving interoperability among biological databases. Furthermore, merely solving the technical challenges of data in- tegration, for example through the use of common data representation formats, leaves open the larger problem. Namely, the steep learning curve required for understanding the data models of each public source, as well as the technical language through which the sources can be queried and joined. As a consequence, most of the available biological data remain practically unexplored today. In this thesis, we address these problems jointly, by first introducing an ontology-based data integration solution in order to mitigate the data source heterogeneity problem. We illustrate through the concrete example of Bgee, a gene expression data source, how relational databases can be exposed as virtual Resource Description Framework (RDF) graphs, through relational-to-RDF mappings. This has the important advantage that the original data source can remain unmodified, while still becoming interoperable with external RDF sources. We complement our methods with applied case studies designed to guide domain experts in formulating expressive federated queries targeting the integrated data across the domains of evolutionary relationships and gene expression. More precisely, we introduce two com- parative analyses, first within the same domain (using orthology data from multiple, inter- operable, data sources) and second across domains, in order to study the relation between expression change and evolution rate following a duplication event. Finally, in order to bridge the semantic gap between users and data, we design and im- plement Bio-SODA, a question answering system over domain knowledge graphs, that does not require training data for translating user questions to SPARQL. Bio-SODA uses a novel ranking approach that combines syntactic and semantic similarity, while also incorporating node centrality metrics to rank candidate matches for a given user question. Our results in testing Bio-SODA across several real-world databases that span multiple domains (both within and outside bioinformatics) show that it can answer complex, multi-fact queries, be- yond the current state-of-the-art in the more well-studied open-domain question answering. -- L’intégration des données promet d’être l’un des principaux catalyseurs permettant d’extraire des nouveaux aperçus de la richesse des données biologiques déjà disponibles publiquement. Cependant, l’hétérogénéité des sources de données existantes pose encore des défis importants pour parvenir à l’interopérabilité des bases de données biologiques. De plus, en surmontant seulement les défis techniques de l’intégration des données, par exemple grâce à l’utilisation de formats standard de représentation de données, on laisse ouvert un problème encore plus grand. À savoir, la courbe d’apprentissage abrupte nécessaire pour comprendre la modéli- sation des données choisie par chaque source publique, ainsi que le langage technique par lequel les sources peuvent être interrogés et jointes. Par conséquent, la plupart des données biologiques publiquement disponibles restent pratiquement inexplorés aujourd’hui. Dans cette thèse, nous abordons l’ensemble des deux problèmes, en introduisant d’abord une solution d’intégration de données basée sur ontologies, afin d’atténuer le problème d’hété- rogénéité des sources de données. Nous montrons, à travers l’exemple de Bgee, une base de données d’expression de gènes, une approche permettant les bases de données relationnelles d’être publiés sous forme de graphes RDF (Resource Description Framework) virtuels, via des correspondances relationnel-vers-RDF (« relational-to-RDF mappings »). Cela présente l’important avantage que la source de données d’origine peut rester inchangé, tout en de- venant interopérable avec les sources RDF externes. Nous complétons nos méthodes avec des études de cas appliquées, conçues pour guider les experts du domaine dans la formulation de requêtes fédérées expressives, ciblant les don- nées intégrées dans les domaines des relations évolutionnaires et de l’expression des gènes. Plus précisément, nous introduisons deux analyses comparatives, d’abord dans le même do- maine (en utilisant des données d’orthologie provenant de plusieurs sources de données in- teropérables) et ensuite à travers des domaines interconnectés, afin d’étudier la relation entre le changement d’expression et le taux d’évolution suite à une duplication de gène. Enfin, afin de mitiger le décalage sémantique entre les utilisateurs et les données, nous concevons et implémentons Bio-SODA, un système de réponse aux questions sur des graphes de connaissances domaine-spécifique, qui ne nécessite pas de données de formation pour traduire les questions des utilisateurs vers SPARQL. Bio-SODA utilise une nouvelle ap- proche de classement qui combine la similarité syntactique et sémantique, tout en incorporant des métriques de centralité des nœuds, pour classer les possibles candidats en réponse à une question utilisateur donnée. Nos résultats suite aux tests effectués en utilisant Bio-SODA sur plusieurs bases de données à travers plusieurs domaines (tantôt liés à la bioinformatique qu’extérieurs) montrent que Bio-SODA réussit à répondre à des questions complexes, en- gendrant multiples entités, au-delà de l’état actuel de la technique en matière de systèmes de réponses aux questions sur les données structures, en particulier graphes de connaissances

Explaining Data Patterns using Knowledge from the Web of Data

Knowledge Discovery (KD) is a long-tradition field aiming at developing methodologies to detect hidden patterns and regularities in large datasets, using techniques from a wide range of domains, such as statistics, machine learning, pattern recognition or data visualisation. In most real world contexts, the interpretation and explanation of the discovered patterns is left to human experts, whose work is to use their background knowledge to analyse, refine and make the patterns understandable for the intended purpose. Explaining patterns is therefore an intensive and time-consuming process, where parts of the knowledge can remain unrevealed, especially when the experts lack some of the required background knowledge. In this thesis, we investigate the hypothesis that such interpretation process can be facilitated by introducing background knowledge from the Web of (Linked) Data. In the last decade, many areas started publishing and sharing their domain-specific knowledge in the form of structured data, with the objective of encouraging information sharing, reuse and discovery. With a constantly increasing amount of shared and connected knowledge, we thus assume that the process of explaining patterns can become easier, faster, and more automated. To demonstrate this, we developed Dedalo, a framework that automatically provides explanations to patterns of data using the background knowledge extracted from the Web of Data. We studied the elements required for a piece of information to be considered an explanation, identified the best strategies to automatically find the right piece of information in the Web of Data, and designed a process able to produce explanations to a given pattern using the background knowledge autonomously collected from the Web of Data. The final evaluation of Dedalo involved users within an empirical study based on a real-world scenario. We demonstrated that the explanation process is complex when not being familiar with the domain of usage, but also that this can be considerably simplified when using the Web of Data as a source of background knowledge

Composição de serviços para aplicações biomédicas

Doutoramento em Engenharia InformáticaA exigente inovação na área das aplicações biomédicas tem guiado a evolução das tecnologias de informação nas últimas décadas. Os desafios associados a uma gestão, integração, análise e interpretação eficientes dos dados provenientes das mais modernas tecnologias de hardware e software requerem um esforço concertado. Desde hardware para sequenciação de genes a registos electrónicos de paciente, passando por pesquisa de fármacos, a possibilidade de explorar com precisão os dados destes ambientes é vital para a compreensão da saúde humana. Esta tese engloba a discussão e o desenvolvimento de melhores estratégias informáticas para ultrapassar estes desafios, principalmente no contexto da composição de serviços, incluindo técnicas flexíveis de integração de dados, como warehousing ou federação, e técnicas avançadas de interoperabilidade, como serviços web ou LinkedData. A composição de serviços é apresentada como um ideal genérico, direcionado para a integração de dados e para a interoperabilidade de software. Relativamente a esta última, esta investigação debruçou-se sobre o campo da farmacovigilância, no contexto do projeto Europeu EU-ADR. As contribuições para este projeto, um novo standard de interoperabilidade e um motor de execução de workflows, sustentam a sucesso da EU-ADR Web Platform, uma plataforma para realizar estudos avançados de farmacovigilância. No contexto do projeto Europeu GEN2PHEN, esta investigação visou ultrapassar os desafios associados à integração de dados distribuídos e heterogéneos no campo do varíoma humano. Foi criada uma nova solução, WAVe - Web Analyses of the Variome, que fornece uma coleção rica de dados de variação genética através de uma interface Web inovadora e de uma API avançada. O desenvolvimento destas estratégias evidenciou duas oportunidades claras na área de software biomédico: melhorar o processo de implementação de software através do recurso a técnicas de desenvolvimento rápidas e aperfeiçoar a qualidade e disponibilidade dos dados através da adopção do paradigma de web semântica. A plataforma COEUS atravessa as fronteiras de integração e interoperabilidade, fornecendo metodologias para a aquisição e tradução flexíveis de dados, bem como uma camada de serviços interoperáveis para explorar semanticamente os dados agregados. Combinando as técnicas de desenvolvimento rápidas com a riqueza da perspectiva "Semantic Web in a box", a plataforma COEUS é uma aproximação pioneira, permitindo o desenvolvimento da próxima geração de aplicações biomédicas.The demand for innovation in the biomedical software domain has been an information technologies evolution driver over the last decades. The challenges associated with the effective management, integration, analyses and interpretation of the wealth of life sciences information stemming from modern hardware and software technologies require concerted efforts. From gene sequencing hardware to pharmacology research up to patient electronic health records, the ability to accurately explore data from these environments is vital to further improve our understanding of human health. This thesis encloses the discussion on building better informatics strategies to address these challenges, primarily in the context of service composition, including warehousing and federation strategies for resource integration, as well as web services or LinkedData for software interoperability. Service composition is introduced as a general principle, geared towards data integration and software interoperability. Concerning the latter, this research covers the service composition requirements within the pharmacovigilance field, namely on the European EU-ADR project. The contributions to this area, the definition of a new interoperability standard and the creation of a new workflow-wrapping engine, are behind the successful construction of the EUADR Web Platform, a workspace for delivering advanced pharmacovigilance studies. In the context of the European GEN2PHEN project, this research tackles the challenges associated with the integration of heterogeneous and distributed data in the human variome field. For this matter, a new lightweight solution was created: WAVe, Web Analysis of the Variome, provides a rich collection of genetic variation data through an innovative portal and an advanced API. The development of the strategies underlying these products highlighted clear opportunities in the biomedical software field: enhancing the software implementation process with rapid application development approaches and improving the quality and availability of data with the adoption of the Semantic Web paradigm. COEUS crosses the boundaries of integration and interoperability as it provides a framework for the flexible acquisition and translation of data into a semantic knowledge base, as well as a comprehensive set of interoperability services, from REST to LinkedData, to fully exploit gathered data semantically. By combining the lightness of rapid application development strategies with the richness of its "Semantic Web in a box" approach, COEUS is a pioneering framework to enhance the development of the next generation of biomedical applications

Conceptualization of Computational Modeling Approaches and Interpretation of the Role of Neuroimaging Indices in Pathomechanisms for Pre-Clinical Detection of Alzheimer Disease

With swift advancements in next-generation sequencing technologies alongside the voluminous growth of biological data, a diversity of various data resources such as databases and web services have been created to facilitate data management, accessibility, and analysis. However, the burden of interoperability between dynamically growing data resources is an increasingly rate-limiting step in biomedicine, specifically concerning neurodegeneration. Over the years, massive investments and technological advancements for dementia research have resulted in large proportions of unmined data. Accordingly, there is an essential need for intelligent as well as integrative approaches to mine available data and substantiate novel research outcomes. Semantic frameworks provide a unique possibility to integrate multiple heterogeneous, high-resolution data resources with semantic integrity using standardized ontologies and vocabularies for context- specific domains. In this current work, (i) the functionality of a semantically structured terminology for mining pathway relevant knowledge from the literature, called Pathway Terminology System, is demonstrated and (ii) a context-specific high granularity semantic framework for neurodegenerative diseases, known as NeuroRDF, is presented. Neurodegenerative disorders are especially complex as they are characterized by widespread manifestations and the potential for dramatic alterations in disease progression over time. Early detection and prediction strategies through clinical pointers can provide promising solutions for effective treatment of AD. In the current work, we have presented the importance of bridging the gap between clinical and molecular biomarkers to effectively contribute to dementia research. Moreover, we address the need for a formalized framework called NIFT to automatically mine relevant clinical knowledge from the literature for substantiating high-resolution cause-and-effect models

Methods for Matching of Linked Open Social Science Data

In recent years, the concept of Linked Open Data (LOD), has gained popularity and acceptance across various communities and domains. Science politics and organizations claim that the potential of semantic technologies and data exposed in this manner may support and enhance research processes and infrastructures providing research information and services. In this thesis, we investigate whether these expectations can be met in the domain of the social sciences. In particular, we analyse and develop methods for matching social scientific data that is published as Linked Data, which we introduce as Linked Open Social Science Data. Based on expert interviews and a prototype application, we investigate the current consumption of LOD in the social sciences and its requirements. Following these insights, we first focus on the complete publication of Linked Open Social Science Data by extending and developing domain-specific ontologies for representing research communities, research data and thesauri. In the second part, methods for matching Linked Open Social Science Data are developed that address particular patterns and characteristics of the data typically used in social research. The results of this work contribute towards enabling a meaningful application of Linked Data in a scientific domain

Interlinking educational data to web of data

With the proliferation of educational data on the Web, publishing and interlinking eLearning resources have become an important issue nowadays. Educational resources are exposed under heterogeneous Intellectual Property Rights (IPRs) in different times and formats. Some resources are implicitly related to each other or to the interest, cultural and technical environment of learners. Linking educational resources to useful knowledge on the Web improves resource seeking. This becomes crucial for moving from current isolated eLearning repositories towards an open discovery space, including distributed resources irrespective of their geographic and system boundaries. Linking resources is also useful for enriching educational content, as it provides a richer context and other related information to both educators and learners. On the other hand, the emergence of the so-called "Linked Data" brings new opportunities for interconnecting different kinds of resources on the Web of Data. Using the Linked Data approach, data providers can publish structured data and establish typed links between them from various sources. To this aim, many tools, approaches and frameworks have been built to first expose the data as Linked Data formats and to second discover the similarities between entities in the datasets. The research carried out for this PhD thesis assesses the possibilities of applying the Linked Open Data paradigm to the enrichment of educational resources. Generally speaking, we discuss the interlinking educational objects and eLearning resources on the Web of Data focusing on existing schemas and tools. The main goals of this thesis are thus to cover the following aspects: -- Exposing the educational (meta)data schemas and particularly IEEE LOM as Linked Data -- Evaluating currently available interlinking tools in the Linked Data context -- Analyzing datasets in the Linked Open Data cloud, to discover appropriate datasets for interlinking -- Discussing the benefits of interlinking educational (meta)data in practice

Generation and Applications of Knowledge Graphs in Systems and Networks Biology

The acceleration in the generation of data in the biomedical domain has necessitated the use of computational approaches to assist in its interpretation. However, these approaches rely on the availability of high quality, structured, formalized biomedical knowledge. This thesis has the two goals to improve methods for curation and semantic data integration to generate high granularity biological knowledge graphs and to develop novel methods for using prior biological knowledge to propose new biological hypotheses. The first two publications describe an ecosystem for handling biological knowledge graphs encoded in the Biological Expression Language throughout the stages of curation, visualization, and analysis. Further, the second two publications describe the reproducible acquisition and integration of high-granularity knowledge with low contextual specificity from structured biological data sources on a massive scale and support the semi-automated curation of new content at high speed and precision. After building the ecosystem and acquiring content, the last three publications in this thesis demonstrate three different applications of biological knowledge graphs in modeling and simulation. The first demonstrates the use of agent-based modeling for simulation of neurodegenerative disease biomarker trajectories using biological knowledge graphs as priors. The second applies network representation learning to prioritize nodes in biological knowledge graphs based on corresponding experimental measurements to identify novel targets. Finally, the third uses biological knowledge graphs and develops algorithmics to deconvolute the mechanism of action of drugs, that could also serve to identify drug repositioning candidates. Ultimately, the this thesis lays the groundwork for production-level applications of drug repositioning algorithms and other knowledge-driven approaches to analyzing biomedical experiments

Bench-Ranking: ettekirjutav analüüsimeetod suurte teadmiste graafide päringutele

Relatsiooniliste suurandmete (BD) töötlemisraamistike kasutamine suurte teadmiste graafide töötlemiseks kätkeb endas võimalust päringu jõudlust optimeerimida. Kaasaegsed BD-süsteemid on samas keerulised andmesüsteemid, mille konfiguratsioonid omavad olulist mõju jõudlusele. Erinevate raamistike ja konfiguratsioonide võrdlusuuringud pakuvad kogukonnale parimaid tavasid parema jõudluse saavutamiseks. Enamik neist võrdlusuuringutest saab liigitada siiski vaid kirjeldavaks ja diagnostiliseks analüütikaks. Lisaks puudub ühtne standard nende uuringute võrdlemiseks kvantitatiivselt järjestatud kujul. Veelgi enam, suurte graafide töötlemiseks vajalike konveierite kavandamine eeldab täiendavaid disainiotsuseid mis tulenevad mitteloomulikust (relatsioonilisest) graafi töötlemise paradigmast. Taolisi disainiotsuseid ei saa automaatselt langetada, nt relatsiooniskeemi, partitsioonitehnika ja salvestusvormingute valikut. Käesolevas töös käsitleme kuidas me antud uurimuslünga täidame. Esmalt näitame disainiotsuste kompromisside mõju BD-süsteemide jõudluse korratavusele suurte teadmiste graafide päringute tegemisel. Lisaks näitame BD-raamistike jõudluse kirjeldavate ja diagnostiliste analüüside piiranguid suurte graafide päringute tegemisel. Seejärel uurime, kuidas lubada ettekirjutavat analüütikat järjestamisfunktsioonide ja mitmemõõtmeliste optimeerimistehnikate (nn "Bench-Ranking") kaudu. See lähenemine peidab kirjeldava tulemusanalüüsi keerukuse, suunates praktiku otse teostatavate teadlike otsusteni.Leveraging relational Big Data (BD) processing frameworks to process large knowledge graphs yields a great interest in optimizing query performance. Modern BD systems are yet complicated data systems, where the configurations notably affect the performance. Benchmarking different frameworks and configurations provides the community with best practices for better performance. However, most of these benchmarking efforts are classified as descriptive and diagnostic analytics. Moreover, there is no standard for comparing these benchmarks based on quantitative ranking techniques. Moreover, designing mature pipelines for processing big graphs entails considering additional design decisions that emerge with the non-native (relational) graph processing paradigm. Those design decisions cannot be decided automatically, e.g., the choice of the relational schema, partitioning technique, and storage formats. Thus, in this thesis, we discuss how our work fills this timely research gap. Particularly, we first show the impact of those design decisions’ trade-offs on the BD systems’ performance replicability when querying large knowledge graphs. Moreover, we showed the limitations of the descriptive and diagnostic analyses of BD frameworks’ performance for querying large graphs. Thus, we investigate how to enable prescriptive analytics via ranking functions and Multi-Dimensional optimization techniques (called ”Bench-Ranking”). This approach abstracts out from the complexity of descriptive performance analysis, guiding the practitioner directly to actionable informed decisions.https://www.ester.ee/record=b553332