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From phenotype to genotype: issues in navigating the available information resources.
J A Mitchell1, A T McCray, O Bodenreider
1Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA. mitchelljo@health.missouri.edu
Methods of Information in Medicine
|December 5, 2003
Summary
Navigating genetic disease information online is challenging due to complex, dynamic data and inconsistent representations. Improved tools and standards are needed for easier phenotype-to-genotype navigation, especially for non-experts.
Area of Science:
- Genomics
- Bioinformatics
- Medical Informatics
Background:
- The Human Genome Project provides vast data on human genetic diseases.
- Connecting health professionals and the public to this genomic information is crucial.
Purpose of the Study:
- To assess the availability and nature of Human Genome Project data for human genetic diseases.
- To identify challenges in accessing and navigating this information.
Main Methods:
- Focused on single-gene diseases from MEDLINEplus, a consumer health resource.
- Utilized publicly available websites to investigate gene-disease associations.
- Examined knowledge representation and navigational issues.
Main Results:
- Numerous online resources exist but are often complex and technical.
- Key challenges include data complexity, dynamism, resource diversity, and lack of standardization.
- Phenotype-to-genotype navigation is hindered by these factors.
Conclusions:
- Official gene names are insufficient for web resource navigation.
- Inconsistencies in gene/product forms and currency create navigational difficulties.
- Synonymy and polysemy lead to confusion, impeding computational navigation and requiring new tools and standards.