Abstract
A gene can be defined as a basic unit of heredity and genetics as the study of genes and their properties. In a broad sense, genetics can be thought of as the construction of models based on information about genes and populations and the seeking of relationships between pieces of information. Information science can be applied here to collect and manage the data, model it, and mine it for relationships. This paper will focus primarily on the former two aspects. As a field of study, genetics can be divided into three branches: Mendelian genetics, molecular genetics, and population genetics. Mendelian or “classical” genetics is the study of the transmission of traits between generations. Molecular genetics is the study of the chemical structure of genes and their mechanism of function from a molecular perspective. Population genetics is the study of the variation in genetic information across populations of organisms. This paper discusses domain specific issues in modeling biological and genomic data and their importance in information system implementations. In particular, it focuses on the use of the mitochondrial genome as a model genomic system for the development of human genome databases. At the outset it is worthwhile reviewing the scope and aims of the Human Genome Project
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Bibliography
Anderson, S; Bankier, AT; Barrell, BG; deBruijn, MHL; Coulson, AR; Drouin, J; Eperon, IC; Nierlich, DP; Rose, BA; Sanger, F; Schreier, PH, Smith, AJH; Staden, R; Young, IG, “Sequence and organization of the human mitochondrial genome.” Nature 290:457–465, 1981.
Benson DA, Boguski M, Lipman DJ, and Ostell J, GenBank. Nucleic Acids Research 24(1):1–5, 1996.
Chen, P.P. “The Entity-Relationship Model-Toward a Unified View of Data,” ACM Trans. on Database Systems, 1, 1 (March 1976), 9–36.
Cuticchia, A.J.; Fasman, K.H.; Kingsbury, D.T.; Robbins, R.J.; and Pearson, P.L., “The GDB human genome database anno 1993”. Nucleic Acids Research 21(13):3003–3006, 1993.
Frenkel, K.A., “The Human Genome Project and Bioinformatics.” CACM. 34(11) Nov. 1991.
Kogelnik A.M., Lott M.T., Brown M.D., Navathe S.B., Wallace D.C. MITOMAP: an update on the human mitochondrial genome database. Nucleic Acids Research. 25(1), 1997.
Kogelnik, AM; Navathe, SB; Wallace, DC; “GENOME: a system for managing Human Genome Project data.” Genome Informatics’ 97.
Pearson, P.; Francomano, C.; Foster, P.; Bocchini, C; Li P.; and McKusick, V., The status of online Mendelian inheritance in man (OMIM) medio 1994. Nucleic Acids Research 22(17):3470–3473.
Robbins, R.J. “Genome Informatics: Requirements and Challenges”, The Second International Conference on Bioinformatics, Supercomputing and Complex Genome Analysis. World Scientific Publishing, 1993.
Wallace, D.C. 1995. “1994 William Allan Award Address: Mitochondrial DNA Variation in Human Evolution, Degenerative Disease, and Aging.” Am J Human Genet 57:201–223.
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© 1999 Springer-Verlag Berlin Heidelberg
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Navathe, S.B., Kogelnik, A.M. (1999). The Challenges of Modeling Biological Information for Genome Databases. In: Goos, G., et al. Conceptual Modeling. Lecture Notes in Computer Science, vol 1565. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-48854-5_14
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DOI: https://doi.org/10.1007/3-540-48854-5_14
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