HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
2024
Improvements to HGVS Nomenclature 2024
publication
Evidence: high
Author Information
Author(s): Hart Reece K., Fokkema Ivo F. A. C., DiStefano Marina, Hastings Ros, Laros Jeroen F. J., Taylor Rachel, Wagner Alex H., den Dunnen Johan T.
Primary Institution: MyOme, Inc.
Conclusion
The updates to the HGVS Nomenclature enhance its usability and accessibility for the genomics community.
Supporting Evidence
- The HGVS Nomenclature is the global standard for describing DNA variants.
- Recent updates include a new website and formal feedback mechanisms.
- Improvements enhance the accessibility and usability of the nomenclature.
Takeaway
This study made the rules for naming DNA changes easier to understand and use, helping scientists and doctors communicate better.
Methodology
The HGVS Variant Nomenclature Committee now operates under HUGO, with a redesigned website and formal mechanisms for community feedback.
Digital Object Identifier (DOI)
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