Biomedical Engineering Reference
In-Depth Information
neurofibromatosis would be:
Data
(from direct observation)
l
Patient Age: 5. Physical Exam Findings: Freckling in the armpits and masses on and just
below the surface of the skin.
Information
(from a molecular disease database)
l
Neurofibromatosis is a genetic disorder causing tumors to form on nerve tissue anywhere in
the body. The pattern of inheritance is autosomal dominant.
Metadata
(from an online publications database)
l
The incidence of neurofibromatosis is about one out of every 2,500 people worldwide. It is
associated with difficulty seeing, hearing, and in some cases (NF2), with paralysis and early
death. In contrast, type 1 (NF1) is more of a cosmetic disorder.
For the clinician, the importance of the databases—whether they contain data, information, or
metadata—is to aid in correctly diagnosing the patient and to correctly counsel the parents about the
possibility of the disease occurring in children born later. Because neurofibromatosis is an autosomal
dominant disease, the clinician would expect each additional offspring to have a 50-50 chance of
having the abnormality and could counsel the parents accordingly. This example illustrates how, in
general, progressing from data to metadata involves moving from more to less granularity, from
direct to indirect observation, and from the verifiable to the theoretical.
For a geneticist studying neurofibromatosis, the relevant data, information, and metadata would
likely include:
Data
(from NCBI's Map View)
l
Position of NF2 gene on chromosome 22, in area 22q12 (see
Figure 1-10
).
Figure 1-10. Visualization of NF2 Gene on Chromosome 22. As it
would appear through National Center for Biological Information's
Web-based Map View program, the NF2 gene appears at position
22q12 on chromosome 22.
