Skip to main content

Conceptual Modeling of Genetic Studies and Pharmacogenetics

  • Conference paper

Part of the book series: Lecture Notes in Computer Science ((LNTCS,volume 3482))

Abstract

Genetic Studies examine relationships between genetic variation and disease development. Pharmacogenetics studies the responses to drugs against genetic variation. These two lines of research evaluate relationships among genotype, phenotype, and environment regarding subjects. These studies demand a variety of other information; such as clinical observations, disease development history, demographics, life style, and living environment. Correct and informative modeling of these data is critical for bioinformaticians; the model affects the capacity of data manipulation and the types of queries they can ask as well as performance of the implemented system. In this paper, we present a conceptual model on genetic studies and Pharmacogenetics using Unified Modeling Language (UML). Our model provides a comprehensive view of integrated data for genetic studies and Pharmacogenetics by incorporating genomics, experimental data, domain knowledge, research approaches, and interface data for other publicly available resources into one cohesive model. Our model can support diverse biomedical research activities that use both clinical and biomedical data to improve patient care through incorporation of the roles of environment, life style and genetics. Our model consists of a set of class diagrams organized into a hierarchy of packages diagrams to clearly and intuitively show inter-object relationships at different levels of complexity.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Berghozlz, A., Heymann, S., Schenk, J., Freytag, J.: Sequence comparison using a relational database approach. In: Proceedings of the International Database Engineering and Application Symposium (IDEAS), Montreal (August 1997)

    Google Scholar 

  2. Collins, F., Green, E., Guttmacher, A., Guyer, S.: A vision for the future of genomics research. Nature 422 (April 24, 2003)

    Google Scholar 

  3. Eilbeck, K., Brass, A., Paton, N., Hodgman, C.: INTERACT: an object oriented protein-protein interaction database. In: Proceedings of Intelligent Systems in Molecular Biology, pp. 87–94 (1999)

    Google Scholar 

  4. Ellis, L.B., Speedie, S.M., McLeish, R.: Representing metabolic pathway information: an object-oriented approach. Bioinformatics 14, 803–806 (1998)

    Article  Google Scholar 

  5. Garcia-Molina, H., Papakonstantinou, Y., Quass, D., Rajaraman, A., Sagiv, Y., Ullman, J., Wildom, J.: The TSIMMIS approach to mediation: Data models and languages. In: Proceedings of Second International Workshop on Next Generation Information Technologies and System, pp. 185–193 (June 1995)

    Google Scholar 

  6. Gray, P.M.D., Paton, N.W., Kemp, G.J.L., Fothergill, J.E.: An object-oriented database for protein structure analysis. Protein Engineering 3, 235–243 (1990)

    Article  Google Scholar 

  7. Heymans, M., Singh, A.: Deriving phylogenetic trees from the similarity analysis of metabolic pathways. Bioinformatics 19(Suppl. 1), i138-i146 (2003)

    Google Scholar 

  8. Hu, J., Mungall, C., Nicholson, D., Archibald, A.: Design and implementation of a CORBA-based genome mapping system prototype. Bioinformatics 14(2), 112–120 (1998)

    Article  Google Scholar 

  9. Jungfer, K., Rodriguez-Tome, P.: Mapplet: a CORBA-based genome map viewer. Bioinformatics 14(8), 734–738 (1998)

    Article  Google Scholar 

  10. Karp, P.: Representing, Analyzing, and Synthesizing Biochemical Pathways. IEEE Expert (April 1994)

    Google Scholar 

  11. Kell, D.: Genotype—Phenotype mapping: genes as computer programs. Trends in Genetics 18(11) (2002)

    Google Scholar 

  12. Kim, J.: Computers are from Mars, Organisms are from Venus. Computer, 25–32 (July 2002)

    Google Scholar 

  13. Krynetski, E.Y., Evans, W.E.: Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm. Pharm. Res. 16, 342–349 (1999)

    Article  Google Scholar 

  14. Larman, C.: Applying UML and Patterns, 2nd edn. Prentice-Hall, Englewood Cliffs (2001)

    Google Scholar 

  15. Oliver, D.E., Rubin, D.L., Stuart, J.M., Hewett, M., Klein, T.E., Altman, R.B.: Ontology Development for a Pharmacogenetics Knowledge Base. In: Proceedings of Pacific Symposium on Biocomputing, pp. 65–76 (2002)

    Google Scholar 

  16. Paton, N., et al.: Conceptual Modeling of Genomic Information. Bioinformatics 16(6), 548–557 (2000)

    Article  Google Scholar 

  17. Ram, S., Wei, W.: Semantic Modeling of Biological Sequences. In: Proceedings of the 13th Workshop on Information Technologies and Systems, Seattle, pp. 183–188 (2003)

    Google Scholar 

  18. Ram, S., Wei, W.: Modeling the Semantics of Protein Structures. In: Atzeni, P., Chu, W., Lu, H., Zhou, S., Ling, T.-W. (eds.) ER 2004. LNCS, vol. 3288, pp. 696–708. Springer, Heidelberg (2004)

    Chapter  Google Scholar 

  19. Roses, A.D.: Pharmacogenetics and the practice of medicine. Nature 405(6788), 857–865 (2000)

    Article  Google Scholar 

  20. Rubin, D., et al.: Representing genetic sequence data for Pharmacogenetics: an evolutionary approach using ontological and relational models. Bioinformatics 18(Suppl.), S207-S215 (2002)

    Google Scholar 

  21. Schreiber, F.: Comparison of Metabolic Pathways using Constraint Graph Drawing. In: First Asia-Pacific Bioinformatics Conference (APBC 2003), Adelaide, Australia (2003)

    Google Scholar 

  22. Wong, L.: Kleisli: a functional query system. J. Functional Programming 10(1), 19–56 (2000)

    Article  Google Scholar 

  23. Wang, Z., Moult, J.: SNPs, Proteins Structures and Diseases. Human Mutation 17, 263–270 (2001)

    Article  Google Scholar 

  24. [PharmGKB] Pharmacogenetics Knowledge Base, http://www.pharmgkb.org/

  25. Primer on Molecular Genetics, taken from the June 1992 DOE Human Genome 1991-92 Program Report (1992)

    Google Scholar 

  26. Reference Sequences, http://www.ncbi.nlm.nih.gov/RefSeq/

  27. Developing a Haplotype Map of the Human Genome for Finding Genes Related to Health and Disease, http://www.genome.gov/10001665

  28. White Paper: SNPs—Powerful Tools for Association Studies. Applied Biosystems (August 2003)

    Google Scholar 

  29. GenBank, http://www.ncbi.nih.gov/Genbank/

  30. EMBL Nucleotide Sequence Database, http://www.ebi.ac.uk/embl/

  31. DNA Database of Japan (DDBJ), http://www.ddbj.nig.ac.jp/

  32. Online Mendelian Inheritance in Man (OMIM), http://www.nslij-genetics.org/search_omim.html

  33. dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/

  34. dbSTS, http://www.ncbi.nlm.nih.gov/dbSTS/

  35. MedLine, http://www.medline.com/

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Zhou, X., Song, IY. (2005). Conceptual Modeling of Genetic Studies and Pharmacogenetics. In: Gervasi, O., et al. Computational Science and Its Applications – ICCSA 2005. ICCSA 2005. Lecture Notes in Computer Science, vol 3482. Springer, Berlin, Heidelberg. https://doi.org/10.1007/11424857_43

Download citation

  • DOI: https://doi.org/10.1007/11424857_43

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-25862-9

  • Online ISBN: 978-3-540-32045-6

  • eBook Packages: Computer ScienceComputer Science (R0)

Publish with us

Policies and ethics