From phenotype to genotype: issues in navigating the available information resources

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Publication Type pre-print
School or College School of Medicine
Department Biomedical Informatics
Creator Mitchell, Joyce A.
Other Author McCray, A.T., Bodenreider, O.
Title From phenotype to genotype: issues in navigating the available information resources
Date 2003-01-01
Description Objectives-As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic diseases. Methods-We focused on a set of single gene diseases selected from main topics in MEDLINEplus, the NLM's principal resource focused on consumers. We used publicly available websites to investigate specific questions about the genes and gene products associated with the diseases. We also investigated questions of knowledge and data representation for the information resources and navigational issues. Results-Many online resources are available but they are complex and technical. The major challenges encountered when navigating from phenotype to genotype were (1) complexity of the data, (2) dynamic nature of the data, (3) diversity of foci and number of information resources, and (4) lack of use of standard data and knowledge representation methods. Conclusions-Three major informatics issues arise from the navigational challenges. First, the official gene names are insufficient for navigation of these web resources. Second, navigational inconsistencies arise from difficulties in determining the number and function of alternate forms of the gene or gene product and maintaining currency with this information. Third, synonymy and polysemy cause much confusion. These are severe obstacles to computational navigation from phenotype to genotype, especially for individuals who are novices in the underlying science. Tools and standards to facilitate this navigation are sorely needed.
Type Text
Publisher Schattauer
Volume 42
Issue 5
First Page 557
Last Page 563
Dissertation Institution University of Utah
Language eng
Bibliographic Citation Mitchell, J. A., McCray, A.T., & Bodenreider, O. (2003). From phenotype to genotype: issues in navigating the available information resources. Methods of Information in Medicine, 42(5), 557-63.
Rights Management (c) Schattauer
Format Medium application/pdf
Format Extent 502,037 bytes
Identifier uspace,17825
ARK ark:/87278/s6f76x9f
Setname ir_uspace
Date Created 2012-09-21
Date Modified 2021-05-06
ID 708140
Reference URL