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Recommendations for locus-specific databases and their curation
R G H Cotton1, A D Auerbach, J S Beckmann
1Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Australia. cotton@unimelb.edu.au
Human Mutation
|December 25, 2007
Summary
Expert curation of gene mutation databases is crucial for genetic healthcare. This work discusses the need for formal recommendations for locus-specific databases (LSDBs) to improve consistency and quality in genetic research.
Area of Science:
- Genetics
- Bioinformatics
- Medical Informatics
Background:
- Expert curation of gene mutations is vital for genetic healthcare and research.
- Gene-specific mutation databases, or locus-specific databases (LSDBs), are maintained by expert curators.
- Over 700 LSDBs exist, but they exhibit significant variability in content, completeness, and curator expertise.
Purpose of the Study:
- To initiate a discussion on establishing formal recommendations for the ideal structure and content of locus-specific databases (LSDBs).
- To address the lack of standardized guidelines for LSDBs despite over a decade of discussion and protocol development.
Main Methods:
- Literature review and synthesis of existing knowledge on gene mutation databases and curation practices.
- Initiation of a discussion forum for experts in human genetics to propose recommendations.
Main Results:
- Identified a critical need for formal recommendations to standardize LSDBs.
- Highlighted the variability in current LSDBs regarding content, completeness, and curation expertise.
Conclusions:
- Formal recommendations are necessary to enhance the quality and consistency of locus-specific databases (LSDBs).
- Standardization of LSDBs will significantly benefit human genetics research and clinical applications.
- Further expert discussion is encouraged to develop these essential guidelines.
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