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From Phenotype to Genotype: Issues in Navigating the Available Information Resources

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Mitchell JA, McCray AT, Bodenreider O
Methods Inf Med. 2003;42(5):557-63.
Abstract: 

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. We focused on a set of single gene diseases selected from main topics in MEDLINEplus. We used publicly available websites to investigate specific questions about the genes and gene producs associated with the diseases. We also investigated questions of knowledge and data represenation for the information resources and navigational issues. 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. Tools and standards to facilitate this navigation are sorely needed.

Mitchell JA, McCray AT, Bodenreider O. From Phenotype to Genotype: Issues in Navigating the Available Information Resources Methods Inf Med. 2003;42(5):557-63.