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The risks of using unapproved gene symbols
Bryony Braschi1, Ruth L Seal2, Susan Tweedie1
1HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
American Journal of Human Genetics
|October 9, 2021
Summary
Using approved gene nomenclature, such as HUGO Gene Nomenclature Committee (HGNC) symbols, is crucial for clear scientific communication. Failure to do so can cause confusion between different human genes in research publications.
Area of Science:
- Genetics
- Bioinformatics
- Scientific Publishing
Background:
- Effective scientific communication relies on standardized terminology, especially for genes with clinical significance.
- Inconsistent gene symbol usage in publications can lead to significant confusion among researchers.
- The HUGO Gene Nomenclature Committee (HGNC) provides approved nomenclature for human genes.
Purpose of the Study:
- To highlight instances where non-approved gene symbols have caused confusion between distinct human genes.
- To guide authors on adhering to HGNC-approved nomenclature in their manuscripts.
- To emphasize the utility of HGNC IDs in resolving ambiguity associated with gene alias symbols.
Main Methods:
- Review and analysis of publication case studies demonstrating nomenclature-related gene confusion.
- Explanation of the HGNC approval process and guidelines for gene symbol usage.
- Discussion of strategies for authors to ensure correct gene nomenclature in submissions.
Main Results:
- Several examples identified where the use of non-HGNC-approved symbols led to the conflation of unrelated human genes in the scientific literature.
- Demonstration of how referencing HGNC IDs effectively disambiguates gene references, even when alias symbols are present.
- Clear pathways outlined for authors to verify and implement correct gene nomenclature.
Conclusions:
- Adherence to HGNC-approved gene nomenclature is essential for preventing ambiguity and ensuring accurate scientific discourse.
- Utilizing HGNC IDs provides a robust solution to the problem of confusing gene alias symbols in publications.
- Promoting standardized gene naming conventions enhances the reliability and reproducibility of genetic research.
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