Abstract
One of the achievements of the eyeGENE Network is a repository of DNA samples of patients with inherited eye diseases and an associated database that tracks key elements of phenotype and genotype information for each patient. Although its database structure serves its direct research needs, eyeGENE has set a goal of enhancing this structure to become increasingly well integrated with medical information standards over time. This goal should be achieved by ensuring semantic interoperability with other information systems but without adopting the incoherencies and inconsistencies found in available biomedical standards. Therefore, eyeGENE’s current pragmatic perspective with focus on data and information, rather than what the information is about, should shift to a realism-based perspective that includes also the portion of reality described, and the competing opinions that clinicians may hold about it. An analysis of eyeGENE’s database structure and user interfaces suggests that such a transition is possible indeed.
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Ceusters, W. Providing a Realist Perspective on the eyeGENE Database System. Nat Prec (2009). https://doi.org/10.1038/npre.2009.3467.1
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DOI: https://doi.org/10.1038/npre.2009.3467.1