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DOI: 10.15265/IY-2016-022
Knowledge Representation and Management: a Linked Data Perspective
Correspondence to:
Publikationsverlauf
10. November 2016
Publikationsdatum:
06. März 2018 (online)
Summary
Introduction: Biomedical research is increasingly becoming a data-intensive science in several areas, where prodigious amounts of data is being generated that has to be stored, integrated, shared and analyzed. In an effort to improve the accessibility of data and knowledge, the Linked Data initiative proposed a well-defined set of recommendations for exposing, sharing and integrating data, information and knowledge, using semantic web technologies.
Objective: The main goal of this paper is to identify the current status and future trends of knowledge representation and management in Life and Health Sciences, mostly with regard to linked data technologies.
Methods: We selected three prominent linked data studies, namely Bio2RDF, Open PHACTS and EBI RDF platform, and selected 14 studies published after 2014 (inclusive) that cited any of the three studies. We manually analyzed these 14 papers in relation to how they use linked data techniques.
Results: The analyses show a tendency to use linked data techniques in Life and Health Sciences, and even if some studies do not follow all of the recommendations, many of them already represent and manage their knowledge using RDF and biomedical ontologies.
Conclusion: These insights from RDF and biomedical ontologies are having a strong impact on how knowledge is generated from biomedical data, by making data elements increasingly connected and by providing a better description of their semantics. As health institutes become more data centric, we believe that the adoption of linked data techniques will continue to grow and be an effective solution to knowledge representation and management.
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Keywords
RDF - ontologies - medical informatics - information management - information storage and retrieval - common data elements
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References
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- 3 Galilei G, Van Helden A. Sidereus Nuncius, or The Sidereal Messenger.. University of Chicago Press;; 1989. Apr 15.
- 4 Pradhan S, Elhadad N, Chapman W, Manandhar S. IMIA Yearbook of Medical Informatics. 2016 Savova G. Semeval-2014 task 7: Analysis of clinical text. Sem Eval 2014; 2014 Aug 23 199 (Suppl. 99) 54.
- 5 http://linkeddata.org.
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- 7 Bizer C, Heath T, Berners-Lee T. Linked data-the story so far.. Semantic Services, Interoperability and Web Applications: Emerging Concepts. 2009; 205-27.
- 8 Alocci D, Mariethoz J, Horlacher O, Bolleman JT, Campbell MP, Lisacek F. Property Graph vs RDF Triple Store: A Comparison on Glycan Substructure Search.. PloS One 2015; Dec 14 10 (Suppl. 12) e0144578.
- 9 Belleau F, Nolin MA, Tourigny N, Rigault P, Morissette J. Bio2RDF: towards a mashup to build bioinformatics knowledge systems.. J Biomed Inform 2008; Oct 31 41 (Suppl. 05) 706-16.
- 10 Williams AJ, Harland L, Groth P, Pettifer S, Chichester C, Willighagen EL. et al. Open PHACTS: semantic interoperability for drug discovery.. Drug Discov Today 2012; Nov 30 17 21-22 1188-98.
- 11 Jupp S, Malone J, Bolleman J, Brandizi M, Davies M, Garcia L. et al. The EBI RDF Platform: linked open data for the life sciences.. Bioinformatics 2014; 30 (Suppl. 09) 1338-9.
- 12 Schmachtenberg M, Bizer C, Paulheim H. Adoption of the linked data best practices in different topical domains.. In: International Semantic Web Conference 2014 Oct 19. Springer International Publishing;; 2014. p. 245-60.
- 13 Brickley D, Guha RV. RDF Vocabulary Description Language 1.0: RDF Schema.. W3C Recommendation, February 2004.
- 14 McGuinness DL, Van Harmelen F. OWL web ontology language overview.. W3C recommendation. 2004; Feb 10 10 (Suppl. 10) 2004.
- 15 Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM. et al. Gene Ontology: tool for the unification of biology.. Nat Genet 2000; May 25 (Suppl. 01) 25-9.
- 16 Mayr P, Tudhope D, Clarke SD, Zeng ML, Lin X. Recent applications of Knowledge Organization Systems: introduction to a special issue.. International Journal on Digital Libraries 2016; Mar 1 17 (Suppl. 01) 1-4.
- 17 Jasper R, Uschold M. A framework for understanding and classifying ontology applications. In: Proceedings 12th Int.. Workshop on Knowledge Acquisition, Modelling, and Management KAW 1999 Oct. 1999; 99: 16-21.
- 18 Uschold M, Gruninger M. Ontologies: Principles, methods and applications.. The knowledge engineering review 1996; Jun 1 11 (Suppl. 02) 93-136.
- 19 Lindsay WM. The editing of isidore etymologiae.. The Classical Quarterly 1911; Jan 1 5 (Suppl. 01) 42-53.
- 20 Graunt J. Natural and Political Observations Made Upon the Bills of Mortality;. London;: 1662
- 21 http://www.who.int/classifications/icd/en.
- 22 de Keizer NF, Abu-Hanna A, Zwetsloot-Schonk JH. Understanding terminological systems I: terminology and typology.. Methods Inf Med 2000; Mar 1 39 (Suppl. 01) 16-21.
- 23 http://www.ihtsdo.org/snomed-ct/snomed-ct-worldwide.
- 24 https://www.nlm.nih.gov/research/umls.
- 25 https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/statistics.html.
- 26 Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W. et al. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration.. Nat Biotechnol 2007; Nov 1 25 (Suppl. 11) 1251-5.
- 27 Gene Ontology Consortium.. Gene ontology consortium: going forward.. Nucleic Acids Res 2015; Jan 28 43 (Suppl. 01) D1049-56.
- 28 Schriml LM, Arze C, Nadendla S, Chang YW, Mazaitis M, Felix V. et al. Disease Ontology: a backbone for disease semantic integration.. Nucleic Acids Res 2012; Jan 1 40 (Suppl. 01) D940-6.
- 29 Kibbe WA, Arze C, Felix V, Mitraka E, Bolton E, Fu G. et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.. Nucleic Acids Res 2014; Oct 27 gku 1011.
- 30 Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.. The Am J Hum Genet 2008; Nov 17 83 (Suppl. 05) 610-5.
- 31 Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T. et al. The human phenotype ontology: semantic unification of common and rare disease.. Am J Hum Genet 2015; Jul 2 97 (Suppl. 01) 111-24.
- 32 Leroux H, Lefort L. Semantic enrichment of longitudinal clinical study data using the CDISC standards and the semantic statistics vocabularies.. J Biomed Semantics 2015 Apr 9 6: 16.
- 33 Cases M, Briggs K, Steger-Hartmann T, Pognan F, Marc P, Kleinöder T. et al. The eTOX Data-Sharing Project to Advance in Silico Drug-Induced Toxicity Prediction.. Int J Mol Sci 2014; 15 (Suppl. 11) 21136-54.
- 34 Hettne KM, Dharuri H, Zhao J, Wolstencroft K, Belhajjame K, Soiland-Reyes S. et al. Structuring research methods and data with the research object model: genomics workflows as a case study.. J Biomed Semantics 2014; 5 (Suppl. 01) 41.
- 35 Navas-Delgado I, Garcia-Godoy MJ, López-Camacho E, Rybinski M, Reyes-Palomares A, Medina MA. et al. kpath: integration of metabolic pathway linked data.. Database (Oxford) 2015; Jun 8 2015: bav053.
- 36 Davies M, Nowotka M, Papadatos G, Dedman N, Gaulton A, Atkinson F. et al. ChEMBL web services: streamlining access to drug discovery data and utilities.. Nucleic Acids Res 2015; 43 (Suppl. 01) W612-20.
- 37 Personeni G, Daget S, Bonnet C, Jonveaux P, Devignes MD, Smaíl-Tabbone M. et al. Mining Linked Open Data: a Case Study with Genes Responsible for Intellectual Disability. Data Integration in the Life Sciences - 10th International Conference, DILS 2014, Jul 2014, Lisbon, Portugal.. Lecture Notes in Computer Science 2014; 8574: 16-31.
- 38 Bertel-Paternina L, Castillo LF, Isaza G, Gaitán-Bustamente A. Towards a Linked Open Data Model for Coffee Functional Relationships.. Advances in Intelligent Systems and Computing 2014: 232.
- 39 Mina E, Thompson M, Kaliyaperumal R, Zhao J, van der Horst E, Tatum Z. et al. Nanopublications for exposing experimental data in the life-sciences: a Huntington’s Disease case study.. J Biomed Semantics 2015; 6: 5.
- 40 Merrill E, Corlosquet S, Ciccarese P, Clark T, Das S. Semantic Web repositories for genomics data using the eXframe platform.. J Biomed Semantics 2014; 5 (Suppl. 01) S3.
- 41 Ranzinger R, Aoki-Kinoshita KF, Campbell MP, Kawano S, Lütteke T. et al. GlycoRDF: An ontology to standardize Glycomics data in RDF.. Bioinformatics 2015; Mar 15 31 (Suppl. 06) 919-25.
- 42 Hoehndorf R, Slater L, Schofield PN, Gkoutos GV. Aber-OWL: a framework for ontology-based data access in biology.. BMC Bioinformatics 2015; 16: 26.
- 43 Wolstencroft K, Owen S, Krebs O, Nguyen Q, Stanford NJ, Golebiewski M. et al. SEEK: a systems biology data and model management platform.. BMC Syst Biol 2015; 9: 33.
- 44 Kawano S, Watanabe T, Mizuguchi S, Araki N, Katayama T, Yamaguchi A. TogoTable: cross-database annotation system using the Resource Description Framework (RDF) data model.. Nucleic Acids Res 2014; 42 Web Server issue W442-8.
- 45 Rebholz-Schuhmannller DCG, Kavaliauskas S, Croset S, Woollard P, Backofen R. et al. A case study: semantic integration of gene–disease associations for type 2 diabetes mellitus from literature and biomedical data resources.. Drug Discov Today 2014; 19 (Suppl. 07) 882-9.
- 46 Ferreira JD, Paolotti D, Couto FM, Silva MJ. On the usefulness of ontologies in epidemiology research and practice.. J Epidemiol Community Health 2013; May 67 (Suppl. 05) 385-8.
- 47 Couto FM, Pinto HS. The next generation of similarity measures that fully explore the semantics in biomedical ontologies.. J Bioinform Comput Biol 2013; Oct 11 (Suppl. 05) 1371001.
- 48 Machado CM, Freitas AT, Couto FM. Enrichment analysis applied to disease prognosis. J.. Biomed Semantics 2013; Oct 8 4: 21.
- 49 Groza T, Köhler S, Doelken S, Collier N, Oellrich A, Smedley D. et al. Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.. Database (Oxford) 2015 Feb 27; 2015
- 50 Goodman A, Pepe A, Blocker AW, Borgman CL, Cranmer K, Crosas M. et al. Ten simple rules for the care and feeding of scientific data.. PLoS Comput Biol 2014; Apr 24 10 (Suppl. 04) e1003542.
- 51 Alsheikh-Ali AA, Qureshi W, Al-Mallah MH, Ioannidis JP. Public availability of published research data in high-impact journals.. PloS One 2011; Jan 6 (Suppl. 09) e24357.
- 52 Couto FM. Rating, recognizing and rewarding metadata integration and sharing on the semantic web.. In10th International Workshop on Uncertainty Reasoning for the Semantic Web (URSW 2014) 2014 Sep. p. 67.
Correspondence to:
-
References
- 1 Morowitz H. Models for biomedical research: A new perspective.. Washington DC: National Academy of Sciences Press; 1985
- 2 Duarte AM, Psomopoulos FE, Blanchet C, Bonvin AM, Corpas M, Franc A. et al. Future opportunities and trends for e-infrastructures and life sciences: going beyond the grid to enable life science data analysis.. Front Genet 2015; Jun 23 6: 197.
- 3 Galilei G, Van Helden A. Sidereus Nuncius, or The Sidereal Messenger.. University of Chicago Press;; 1989. Apr 15.
- 4 Pradhan S, Elhadad N, Chapman W, Manandhar S. IMIA Yearbook of Medical Informatics. 2016 Savova G. Semeval-2014 task 7: Analysis of clinical text. Sem Eval 2014; 2014 Aug 23 199 (Suppl. 99) 54.
- 5 http://linkeddata.org.
- 6 Klyne G, Carroll JJ. Resource description framework (RDF): Concepts and abstract syntax.. W3C recommendation, W3C, February 2004. URL: http://www.w3.org/TR/rdf-concepts.
- 7 Bizer C, Heath T, Berners-Lee T. Linked data-the story so far.. Semantic Services, Interoperability and Web Applications: Emerging Concepts. 2009; 205-27.
- 8 Alocci D, Mariethoz J, Horlacher O, Bolleman JT, Campbell MP, Lisacek F. Property Graph vs RDF Triple Store: A Comparison on Glycan Substructure Search.. PloS One 2015; Dec 14 10 (Suppl. 12) e0144578.
- 9 Belleau F, Nolin MA, Tourigny N, Rigault P, Morissette J. Bio2RDF: towards a mashup to build bioinformatics knowledge systems.. J Biomed Inform 2008; Oct 31 41 (Suppl. 05) 706-16.
- 10 Williams AJ, Harland L, Groth P, Pettifer S, Chichester C, Willighagen EL. et al. Open PHACTS: semantic interoperability for drug discovery.. Drug Discov Today 2012; Nov 30 17 21-22 1188-98.
- 11 Jupp S, Malone J, Bolleman J, Brandizi M, Davies M, Garcia L. et al. The EBI RDF Platform: linked open data for the life sciences.. Bioinformatics 2014; 30 (Suppl. 09) 1338-9.
- 12 Schmachtenberg M, Bizer C, Paulheim H. Adoption of the linked data best practices in different topical domains.. In: International Semantic Web Conference 2014 Oct 19. Springer International Publishing;; 2014. p. 245-60.
- 13 Brickley D, Guha RV. RDF Vocabulary Description Language 1.0: RDF Schema.. W3C Recommendation, February 2004.
- 14 McGuinness DL, Van Harmelen F. OWL web ontology language overview.. W3C recommendation. 2004; Feb 10 10 (Suppl. 10) 2004.
- 15 Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM. et al. Gene Ontology: tool for the unification of biology.. Nat Genet 2000; May 25 (Suppl. 01) 25-9.
- 16 Mayr P, Tudhope D, Clarke SD, Zeng ML, Lin X. Recent applications of Knowledge Organization Systems: introduction to a special issue.. International Journal on Digital Libraries 2016; Mar 1 17 (Suppl. 01) 1-4.
- 17 Jasper R, Uschold M. A framework for understanding and classifying ontology applications. In: Proceedings 12th Int.. Workshop on Knowledge Acquisition, Modelling, and Management KAW 1999 Oct. 1999; 99: 16-21.
- 18 Uschold M, Gruninger M. Ontologies: Principles, methods and applications.. The knowledge engineering review 1996; Jun 1 11 (Suppl. 02) 93-136.
- 19 Lindsay WM. The editing of isidore etymologiae.. The Classical Quarterly 1911; Jan 1 5 (Suppl. 01) 42-53.
- 20 Graunt J. Natural and Political Observations Made Upon the Bills of Mortality;. London;: 1662
- 21 http://www.who.int/classifications/icd/en.
- 22 de Keizer NF, Abu-Hanna A, Zwetsloot-Schonk JH. Understanding terminological systems I: terminology and typology.. Methods Inf Med 2000; Mar 1 39 (Suppl. 01) 16-21.
- 23 http://www.ihtsdo.org/snomed-ct/snomed-ct-worldwide.
- 24 https://www.nlm.nih.gov/research/umls.
- 25 https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/statistics.html.
- 26 Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W. et al. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration.. Nat Biotechnol 2007; Nov 1 25 (Suppl. 11) 1251-5.
- 27 Gene Ontology Consortium.. Gene ontology consortium: going forward.. Nucleic Acids Res 2015; Jan 28 43 (Suppl. 01) D1049-56.
- 28 Schriml LM, Arze C, Nadendla S, Chang YW, Mazaitis M, Felix V. et al. Disease Ontology: a backbone for disease semantic integration.. Nucleic Acids Res 2012; Jan 1 40 (Suppl. 01) D940-6.
- 29 Kibbe WA, Arze C, Felix V, Mitraka E, Bolton E, Fu G. et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.. Nucleic Acids Res 2014; Oct 27 gku 1011.
- 30 Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.. The Am J Hum Genet 2008; Nov 17 83 (Suppl. 05) 610-5.
- 31 Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T. et al. The human phenotype ontology: semantic unification of common and rare disease.. Am J Hum Genet 2015; Jul 2 97 (Suppl. 01) 111-24.
- 32 Leroux H, Lefort L. Semantic enrichment of longitudinal clinical study data using the CDISC standards and the semantic statistics vocabularies.. J Biomed Semantics 2015 Apr 9 6: 16.
- 33 Cases M, Briggs K, Steger-Hartmann T, Pognan F, Marc P, Kleinöder T. et al. The eTOX Data-Sharing Project to Advance in Silico Drug-Induced Toxicity Prediction.. Int J Mol Sci 2014; 15 (Suppl. 11) 21136-54.
- 34 Hettne KM, Dharuri H, Zhao J, Wolstencroft K, Belhajjame K, Soiland-Reyes S. et al. Structuring research methods and data with the research object model: genomics workflows as a case study.. J Biomed Semantics 2014; 5 (Suppl. 01) 41.
- 35 Navas-Delgado I, Garcia-Godoy MJ, López-Camacho E, Rybinski M, Reyes-Palomares A, Medina MA. et al. kpath: integration of metabolic pathway linked data.. Database (Oxford) 2015; Jun 8 2015: bav053.
- 36 Davies M, Nowotka M, Papadatos G, Dedman N, Gaulton A, Atkinson F. et al. ChEMBL web services: streamlining access to drug discovery data and utilities.. Nucleic Acids Res 2015; 43 (Suppl. 01) W612-20.
- 37 Personeni G, Daget S, Bonnet C, Jonveaux P, Devignes MD, Smaíl-Tabbone M. et al. Mining Linked Open Data: a Case Study with Genes Responsible for Intellectual Disability. Data Integration in the Life Sciences - 10th International Conference, DILS 2014, Jul 2014, Lisbon, Portugal.. Lecture Notes in Computer Science 2014; 8574: 16-31.
- 38 Bertel-Paternina L, Castillo LF, Isaza G, Gaitán-Bustamente A. Towards a Linked Open Data Model for Coffee Functional Relationships.. Advances in Intelligent Systems and Computing 2014: 232.
- 39 Mina E, Thompson M, Kaliyaperumal R, Zhao J, van der Horst E, Tatum Z. et al. Nanopublications for exposing experimental data in the life-sciences: a Huntington’s Disease case study.. J Biomed Semantics 2015; 6: 5.
- 40 Merrill E, Corlosquet S, Ciccarese P, Clark T, Das S. Semantic Web repositories for genomics data using the eXframe platform.. J Biomed Semantics 2014; 5 (Suppl. 01) S3.
- 41 Ranzinger R, Aoki-Kinoshita KF, Campbell MP, Kawano S, Lütteke T. et al. GlycoRDF: An ontology to standardize Glycomics data in RDF.. Bioinformatics 2015; Mar 15 31 (Suppl. 06) 919-25.
- 42 Hoehndorf R, Slater L, Schofield PN, Gkoutos GV. Aber-OWL: a framework for ontology-based data access in biology.. BMC Bioinformatics 2015; 16: 26.
- 43 Wolstencroft K, Owen S, Krebs O, Nguyen Q, Stanford NJ, Golebiewski M. et al. SEEK: a systems biology data and model management platform.. BMC Syst Biol 2015; 9: 33.
- 44 Kawano S, Watanabe T, Mizuguchi S, Araki N, Katayama T, Yamaguchi A. TogoTable: cross-database annotation system using the Resource Description Framework (RDF) data model.. Nucleic Acids Res 2014; 42 Web Server issue W442-8.
- 45 Rebholz-Schuhmannller DCG, Kavaliauskas S, Croset S, Woollard P, Backofen R. et al. A case study: semantic integration of gene–disease associations for type 2 diabetes mellitus from literature and biomedical data resources.. Drug Discov Today 2014; 19 (Suppl. 07) 882-9.
- 46 Ferreira JD, Paolotti D, Couto FM, Silva MJ. On the usefulness of ontologies in epidemiology research and practice.. J Epidemiol Community Health 2013; May 67 (Suppl. 05) 385-8.
- 47 Couto FM, Pinto HS. The next generation of similarity measures that fully explore the semantics in biomedical ontologies.. J Bioinform Comput Biol 2013; Oct 11 (Suppl. 05) 1371001.
- 48 Machado CM, Freitas AT, Couto FM. Enrichment analysis applied to disease prognosis. J.. Biomed Semantics 2013; Oct 8 4: 21.
- 49 Groza T, Köhler S, Doelken S, Collier N, Oellrich A, Smedley D. et al. Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.. Database (Oxford) 2015 Feb 27; 2015
- 50 Goodman A, Pepe A, Blocker AW, Borgman CL, Cranmer K, Crosas M. et al. Ten simple rules for the care and feeding of scientific data.. PLoS Comput Biol 2014; Apr 24 10 (Suppl. 04) e1003542.
- 51 Alsheikh-Ali AA, Qureshi W, Al-Mallah MH, Ioannidis JP. Public availability of published research data in high-impact journals.. PloS One 2011; Jan 6 (Suppl. 09) e24357.
- 52 Couto FM. Rating, recognizing and rewarding metadata integration and sharing on the semantic web.. In10th International Workshop on Uncertainty Reasoning for the Semantic Web (URSW 2014) 2014 Sep. p. 67.