Biomedical Engineering Reference
In-Depth Information
Information (from an online molecular disease database)
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The NF2 gene has been mapped to chromosome 22 and is thought to be a so-called "tumor-
suppressor gene."
Metadata (from an online publication database)
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The pattern of inheritance is autosomal dominant, caused by a spontaneous mutation in the
egg or sperm before fertilization.
To the typical practicing clinician, the position of the gene on chromosome 22 and even the fact that
it's a tumor suppressor gene is of no practical interest. In treating the patient and, more importantly,
offering genetic counseling to the parents, the inheritance pattern and how the mutation occurs are
much more relevant than whether the responsible gene is on chromosome 2 or 22. However, for the
researcher, the position on the gene and proximity to other genes is of paramount importance in the
core data to be gleaned from online databases. How the condition appears on the patient—brown
spots on the skin, for example—is of peripheral interest at best.
This difference in perspective affects what constitutes data, information, and metadata, and
illustrates the multiple uses of the genomic databases and the difficulty the database designers have
in assuming typical users. From the molecular biologist's perspective, the hierarchy of data,
information, and metadata is based on first principles. These differences are relative and a matter of
degree, in that what is considered data by one researcher might be considered information or
metadata by another. For example, to typical clinical researchers, molecular disease databases may
represent the finest-grained level of data in which they have an interest. In this case, even the
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