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.
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
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)
Collins, F., Green, E., Guttmacher, A., Guyer, S.: A vision for the future of genomics research. Nature 422 (April 24, 2003)
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)
Ellis, L.B., Speedie, S.M., McLeish, R.: Representing metabolic pathway information: an object-oriented approach. Bioinformatics 14, 803–806 (1998)
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)
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)
Heymans, M., Singh, A.: Deriving phylogenetic trees from the similarity analysis of metabolic pathways. Bioinformatics 19(Suppl. 1), i138-i146 (2003)
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)
Jungfer, K., Rodriguez-Tome, P.: Mapplet: a CORBA-based genome map viewer. Bioinformatics 14(8), 734–738 (1998)
Karp, P.: Representing, Analyzing, and Synthesizing Biochemical Pathways. IEEE Expert (April 1994)
Kell, D.: Genotype—Phenotype mapping: genes as computer programs. Trends in Genetics 18(11) (2002)
Kim, J.: Computers are from Mars, Organisms are from Venus. Computer, 25–32 (July 2002)
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)
Larman, C.: Applying UML and Patterns, 2nd edn. Prentice-Hall, Englewood Cliffs (2001)
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)
Paton, N., et al.: Conceptual Modeling of Genomic Information. Bioinformatics 16(6), 548–557 (2000)
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)
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)
Roses, A.D.: Pharmacogenetics and the practice of medicine. Nature 405(6788), 857–865 (2000)
Rubin, D., et al.: Representing genetic sequence data for Pharmacogenetics: an evolutionary approach using ontological and relational models. Bioinformatics 18(Suppl.), S207-S215 (2002)
Schreiber, F.: Comparison of Metabolic Pathways using Constraint Graph Drawing. In: First Asia-Pacific Bioinformatics Conference (APBC 2003), Adelaide, Australia (2003)
Wong, L.: Kleisli: a functional query system. J. Functional Programming 10(1), 19–56 (2000)
Wang, Z., Moult, J.: SNPs, Proteins Structures and Diseases. Human Mutation 17, 263–270 (2001)
[PharmGKB] Pharmacogenetics Knowledge Base, http://www.pharmgkb.org/
Primer on Molecular Genetics, taken from the June 1992 DOE Human Genome 1991-92 Program Report (1992)
Reference Sequences, http://www.ncbi.nlm.nih.gov/RefSeq/
Developing a Haplotype Map of the Human Genome for Finding Genes Related to Health and Disease, http://www.genome.gov/10001665
White Paper: SNPs—Powerful Tools for Association Studies. Applied Biosystems (August 2003)
GenBank, http://www.ncbi.nih.gov/Genbank/
EMBL Nucleotide Sequence Database, http://www.ebi.ac.uk/embl/
DNA Database of Japan (DDBJ), http://www.ddbj.nig.ac.jp/
Online Mendelian Inheritance in Man (OMIM), http://www.nslij-genetics.org/search_omim.html
MedLine, http://www.medline.com/
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights 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)