HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
These advancements establish a more sustainable foundation for maintaining and evolving the HGVS Nomenclature while improving its accessibility and utility. The introduction of formal computational grammar marks a crucial step toward unambiguous variant descriptions that can be reliably processed by both humans and machines. Combined with enhanced community engagement mechanisms and improved guidance, these changes position the HGVS Nomenclature to better serve the evolving needs of clinical and research genomics while maintaining the stability that users require.
Authors
- Jeroen F. J. Laros (ORCID: https://orcid.org/0000-0002-8715-7371)
- Marina T. DiStefano (ORCID: https://orcid.org/0000-0002-8218-5111)
- Ivo F.A.C. Fokkema (ORCID: https://orcid.org/0000-0002-1368-1939)
- Johan T. den Dunnen (ORCID: https://orcid.org/0000-0002-6304-1710)
- Alex H. Wagner (ORCID: https://orcid.org/0000-0002-2502-8961)
- Reece K. Hart (ORCID: https://orcid.org/0000-0003-3463-0775)
- Rachel L. Taylor (ORCID: https://orcid.org/0000-0002-1235-4303)
- Ros Hastings
Institutions
- Broad Institute (US)
- Nationwide Children's Hospital (US)
- NHS Lothian (GB)
- Leiden University Medical Center (NL)
- Debrecen Reformed Theological University (HU)
- Manchester University NHS Foundation Trust (GB)
- National Institute for Public Health and the Environment (NL)
- Emteq (United Kingdom) (GB)
- Oxford University Hospitals NHS Trust (GB)
- The Ohio State University (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1186/s13073-024-01421-5
- Citations
- 39
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 9.12