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From Phenotype to Genotype: Navigating the Available Information Resources
As part of an investigation of connecting health professionals and the lay public to both the 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 products associated with the diseases. We also investigated questions of knowledge and data representation for the information resources and navigational issues. We assessed the major challenges encountered when navigating from phenotype to genotype.