The human genome project and informatics
Communications of the ACM
The entity-relationship model—toward a unified view of data
ACM Transactions on Database Systems (TODS) - Special issue: papers from the international conference on very large data bases: September 22–24, 1975, Framingham, MA
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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.