Yearb Med Inform 2012; 21(01): 117-125
DOI: 10.1055/s-0038-1639441
Working Group Contribution
Georg Thieme Verlag KG Stuttgart

Data Integration in Genomic Medicine: Trends and Applications

Contribution of the IMIA Working Group on Informatics in Genomic Medicine
J. A. Seoane
1   IMIA Informatics in Genomic Medicine Working Group Chair, Information and Communications Technologies Department, School of Computer Science, University of A Coruña A Coruña, Spain
,
J. Dorado
1   IMIA Informatics in Genomic Medicine Working Group Chair, Information and Communications Technologies Department, School of Computer Science, University of A Coruña A Coruña, Spain
,
V. Aguiar-Pulido
1   IMIA Informatics in Genomic Medicine Working Group Chair, Information and Communications Technologies Department, School of Computer Science, University of A Coruña A Coruña, Spain
,
A. Pazos
1   IMIA Informatics in Genomic Medicine Working Group Chair, Information and Communications Technologies Department, School of Computer Science, University of A Coruña A Coruña, Spain
› Author Affiliations
This work is supported by the following projects: “Ibero-American Network of the Nano-Bio-Info-Cogno Convergent Technologies”, Ibero-NBIC Network (209RT-0366) funded by CYTED (Spain), “Development of new image analysis techniques in 2D Gel for biomedical research” (ref.10SIN105004PR) funded by Xunta de Galicia and RD07/0067/0005, funded by the Carlos III Health Institute.
Further Information

Correspondence to

Julián Dorado
Information and Communications Technologies Department
School of Computer Science
Campus de Elviña s/n.
15071 A Coruña
Spain
Phone: +34 981167000 ext 1239   
Fax: +34 981167160   

Publication History

Publication Date:
10 March 2018 (online)

 

Summary

Objectives

In a near future, each person will incorporate his/her own sequenced genome in his/her electronic health record. In that precise moment, genomic medicine will be fundamental for clinical practice, as an essential key of personalized medicine. All the genomic data, as well as other ‘omics’ and clinical data necessary for personalized medicine, are stored in several distributed databases. Research and patient care require each time more biomedical data integration of several distributed heterogeneous datasources.

Methods

This work develops a comprehensive review of the most relevant works in biomedical data integration, specifically in genomic medical data, analyzing the evolution of architecture and integration techniques during the last 20 years, and its usage.

Conclusion

Most of these solutions, based on cross-linking, data warehouse or federated approaches, are suitable for specific domains. However, none of the models found in the literature is completely appropriate for a general biomedical data integration problem.


#

 


#
  • References

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Correspondence to

Julián Dorado
Information and Communications Technologies Department
School of Computer Science
Campus de Elviña s/n.
15071 A Coruña
Spain
Phone: +34 981167000 ext 1239   
Fax: +34 981167160   

  • References

  • 1 Brazas MD, Yim DS, Yamada JT, Ouellette BF. The 2011 Bioinformatics Links Directory update: more resources, tools and databases and features to empower the bioinformatics community. Nucleic Acids Res 2011; Jul;39(Web Server issue): W3-7.
  • 2 Williams N. How to get databases talking the same language. Science 1997; Jan 17; 275 (5298): 301-2.
  • 3 Sujansky W. Heterogeneous Database Integration in Biomedicine. J Biomed Inform 2001; 34 (04) 285-98.
  • 4 Antezana E, Kuiper M, Mironov V. Biological knowledge management: the emerging role of the Semantic Web technologies. Brief ings in Bioinformatics 2009; July 1, 2009; 10 (04) 392-407.
  • 5 Wong L. Technologies for integrating biological data. Brief Bioinform 2002; December 1, 2002; 03 (04) 389-404.
  • 6 Stein LD. Integrating biological databases. Nat Rev Genet 2003; May; 04 (05) 337-45.
  • 7 Köhler J. Integration of life science databases. Drug Discovery Today: BIOSILICO. [Integration of life science databases] 2004; march 2004; 02 (02) 9.
  • 8 Philippi S, Kohler J. Addressing the problems with life-science databases for traditional uses and systems biology. Nat Rev Genet 2006; Jun; 07 (06) 482-8.
  • 9 Brazhnik O, Jones JF. Anatomy of data integration. J Biomed Inform 2007; 40 (03) 252-69.
  • 10 Louie B, Mork P, Martin-Sanchez F, Halevy A, Tarczy-Hornoch P. Data integration and genomic medicine. J Biomed Inform 2007; 40 (01) 5-16.
  • 11 Burgun A, Bodenreider O. Accessing and integrating data and knowledge for biomedical research. Yearb Med Inform 2008; 91-101.
  • 12 Cheung K-H, Kashyap V, Luciano JS, Chen H, Wang Y, Stephens S. Semantic mashup of biomedical data. J Biomed Inform 2008; 41 (05) 683-6.
  • 13 Cheung KH, Yip KY, Townsend JP, Scotch M. HCLS 2.0/3.0: health care and life sciences data mashup using Web 2.0/3.0. J Biomed Inform 2008; Oct; 41 (05) 694-705.
  • 14 Goble C, Stevens R. State of the nation in data integration for bioinformatics. J Biomed Inform 2008; Oct; 41 (05) 687-93.
  • 15 Philippi S. Data and knowledge integration in the life sciences. Brief Bioinform. 2008; November 1, 2008; 09 (06) 451.
  • 16 Akula SP, Miriyala RN, Thota H, Rao AA, Gedela S. Techniques for integrating -omics data. Bioinformation 2009; 03 (06) 284-6.
  • 17 Ruttenberg A, Clark T, Bug W, Samwald M, Bodenreider O, Chen H. et al. Advancing translational research with the Semantic Web. BMC Bioinformatics 2007; 8 Suppl 3: S2.
  • 18 Zhang Z, Cheung KH, Townsend JP. Bringing Web 2.0 to bioinformatics. Brief Bioinform 2009; Jan; 10 (01) 1-10.
  • 19 Cheung KH, Frost HR, Marshall MS, Prud’hommeaux E, Samwald M, Zhao J. et al. A journey to Semantic Web query federation in the life sciences. BMC Bioinformatics 2009; 10 Suppl 10: S10.
  • 20 Lambrix P, Strömbäck L, Tan H. Information Integration in Bioinformatics with Ontologies and Standards. In: Bry F, Maluszynski J. editors. Semantic Techniques for the Web. Springer Berlin / Heidelberg; 2009: 343-76.
  • 21 Benson D, Boguski M, Lipman D, Ostell J. The National Center for Biotechnology Information. Genomics 1990; Feb; 06 (02) 389-91.
  • 22 Wheeler DL, Chappey C, Lash AE, Leipe DD, Madden TL, Schuler GD. et al. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2000; 28 (01) 10-4.
  • 23 Ritter O, Kocab P, Senger M, Wolf D, Suhai S. Prototype implementation of the integrated genomic database. Comput Biomed Res 1994; Apr; 27 (02) 97-115.
  • 24 Etzold T, Ulyanov A, Argos P. SRS: information retrieval system for molecular biology data banks. Methods Enzymol 1996; 266: 114-28.
  • 25 Zdobnov EM, Lopez R, Apweiler R, Etzold T. The EBI SRS server—recent developments. Bioinformatics 2002; Feb; 18 (02) 368-73.
  • 26 Davidson SB, Overton C, Tannen V, Wong L. BioKleisli: a digital library for biomedical researchers. International Journal on Digital Libraries 1997; 01 (01) 36-53.
  • 27 Kolatkar PR, Sakharkar MK, Tse CR, Kiong BK, Wong L, Tan TW. et al. Development of software tools at BioInformatics Centre (BIC) at the National University of Singapore (NUS). Pac Symp Biocomput 1998; 735-46.
  • 28 Chung SY, Wong L. Kleisli: a new tool for data integration in biology. Trends Biotechnol 1999; Sep; 17 (09) 351-5.
  • 29 Imai T, Matsuda H, Sekihara T, Nakanishi M, Hashimoto A. editors. Implementing an integrated system for heterogeneous molecular biology databases with intelligent agents. Communications, Computers and Signal Processing, 1997 ‘10 Years PACRIM 1987-1997 - Networking the Pacific Rim’ 1997 IEEE Pacific Rim Conference on;. 1997
  • 30 Nadkarni PM, Brandt C, Frawley S, Sayward FG, Einbinder R, Zelterman D. et al. Managing attribute—value clinical trials data using the ACT/DB client-server database system. J Am Med Inform Assoc 1998; Mar-Apr; 05 (02) 139-51.
  • 31 Baker PG, Brass A, Bechhofer S, Goble C, Paton N, Stevens R. TAMBIS—Transparent Access to Multiple Bioinformatics Information Sources. Proc Int Conf Intell Syst Mol Biol 1998; 06: 25-34.
  • 32 Stevens R, Baker P, Bechhofer S, Ng G, Jacoby A, Paton NW. et al. TAMBIS: transparent access to multiple bioinformatics information sources. Bioinformatics 2000; Feb; 16 (02) 184-5.
  • 33 Critchlow T, Fidelis K, Ganesh M, Musick R, Slezak T. DataFoundry: information management for scientific data. IEEE Trans Inf Technol Biomed 2000; Mar; 04 (01) 52-7.
  • 34 Dowell RD, Jokerst RM, Day A, Eddy SR, Stein L. The distributed annotation system. BMC Bioinformatics 2001; 02: 7.
  • 35 Haas LM, Schwarz PM, Kodali P, Kotlar E, Rice JE, Swope WC. DiscoveryLink: a system for integrated access to life sciences data sources. IBM Syst J 2001; 40 (02) 489-511.
  • 36 Mork P, Halevy A, Tarczy-Hornoch P. A model for data integration systems of biomedical data applied to online genetic databases. Proc AMIA Symp 2001; 473-7.
  • 37 Cornell M, Paton NW, Shengli W, Goble CA, Miller CJ, Kirby P, et al. editors. GIMS-a data warehouse for storage and analysis of genome sequence and functional data. Bioinformatics and Bioengineering Conference, 2001 Proceedings of the IEEE 2nd International Symposium on. 2001
  • 38 Bukhman YV, Skolnick J. BioMolQuest: integrated database-based retrieval of protein structural and functional information. Bioinformatics 2001; May; 17 (05) 468-78.
  • 39 Siepel A, Farmer A, Tolopko A, Zhuang M, Mendes P, Beavis W. et al. ISYS: a decentralized, component-based approach to the integration of heterogeneous bioinformatics resources. Bioinformatics 2001; January 1, 2001; 17 (01) 83-94.
  • 40 Ludascher B, Gupta A, Martone ME. editors. Model-based mediation with domain maps. Data Engineering, 2001 Proceedings 17th International Conference on; 2001. 2001
  • 41 Eckman BA, Kosky AS, Laroco J, Leonardo A. Extending traditional query-based integration approaches for functional characterization of post-genomic data. Bioinformatics 2001; July 1, 2001; 17 (07) 587-601.
  • 42 McDonagh EM, Whirl-Carrillo M, Garten Y, Altman RB, Klein TE. From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource. Biomark Med 2011; Dec; 05 (06) 795-806.
  • 43 Klein TE, Chang JT, Cho MK, Easton KL, Fergerson R, Hewett M. et al. Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base. Pharmacogenomics J 2001; 01 (03) 167-70.
  • 44 Gong L, Owen RP, Gor W, Altman RB, Klein TE. Pharm GKB: an integrated resource of pharmacogenomic data and knowledge. Curr Protoc Bioinformatics. 2008 Sep;Chapter 14:Unit14 7
  • 45 Karasavvas K, Burger A, Baldock R. A Multi-agent Bioinformatics Integration System with Adjustable Autonomy. In: Ishizuka M, Sattar A. editors. PRICAI 2002: Trends in Artificial Intelligence. Springer Berlin / Heidelberg; 2002: 171-87.
  • 46 Karasavvas KA, Baldock R, Burger A. Bioinformatics integration and agent technology. J Biomed Inform 2004; 37 (03) 205-19.
  • 47 Arenson AD. Federating data with Information Integrator. Brief Bioinform 2003; December 1, 2003; 04 (04) 375-81.
  • 48 Köhler J, Philippi S, Lange M. SEMEDA: ontology based semantic integration of biological databases. Bioinformatics 2003; December 12, 2003; 19 (18) 2420-7.
  • 49 Oliveira JL, Dias G, Oliveira I, Rocha P, Hermosilla I, Vicente J. et al. DiseaseCard: A Web-Based Tool for the Collaborative Integration of Genetic and Medical Information. In: Barreiro JM, Martin-Sanchez F, Maojo V, Sanz F. editors. Biological and Medical Data Analysis. Springer Berlin / Heidelberg; 2004: 409-17.
  • 50 Dias GS, Oliveira JL, Vicente J, Martin-Sanchez F. Integrating medical and genomic data: a successful example for rare diseases. Stud Health Technol Inform 2006; 124: 125-30.
  • 51 Kasprzyk A, Keefe D, Smedley D, London D, Spooner W, Melsopp C. et al. EnsMart: a generic system for fast and flexible access to biological data. Genome Res 2004; Jan; 14 (01) 160-9.
  • 52 Donelson L, Tarczy-Hornoch P, Mork P, Dolan C, Mitchell JA, Barrier M. et al. The BioMediator system as a data integration tool to answer diverse biologic queries. Stud Health Technol Inform 2004; 107 (Pt 2): 768-72.
  • 53 Philippi S. Light-weight integration of molecular biological databases. Bioinformatics 2004; January 1, 2004; 20 (01) 51-7.
  • 54 Robinson A, Rahayu W. Genome Database Integration. In: Laganà A, Gavrilova ML, Kumar V, Mun Y, Tan CJK, Gervasi O. editors. Computational Science and Its Applications – ICCSA 2004. Springer Berlin / Heidelberg: 2004: 443-53.
  • 55 Marenco L, Wang TY, Shepherd G, Miller PL, Nadkarni P. QIS: A framework for biomedical database federation. J Am Med Inform Assoc 2004; Nov-Dec; 11 (06) 523-34.
  • 56 Lam HY, Marenco L, Clark T, Gao Y, Kinoshita J, Shepherd G. et al. AlzPharm: integration of neurodegeneration data using RDF. BMC Bioinformatics 2007; 8 Suppl 3: S4.
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