ArticleGenome medicine2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.
Article in Genome medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
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- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative.JMIR medical informatics · 2026Article
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- Beyond Invariable Sites: Using Evolutionary Stasis to Map Multilayered Constraints on the Evolution of Viral and Mammalian Genomes.Genome biology and evolution · 2026Article
- SNPnexus: an enhanced web platform for large-scale and multi-sample variant analysis (2025 update).Nucleic acids research · 2026Article
- Genetic landscape of phenylketonuria in Brazil.Orphanet journal of rare diseases · 2026Article
- Integrative Genomic Mapping and Visualization From Curated Public Datasets Reveals Germline RB1 Variant Diversity in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- A UniqueInternational journal of molecular sciences · 2026Article
- Large language model-based approach for low-cost, rapid and accurate automated extraction of predictive biomarker testing results from Dutch pathology reports.Virchows Archiv : an international journal of pathology · 2026Article
- An RHD gene variant, common in southern Chinese Han, involves a short 688 bp deletion and a long 21.8 kb insertion in the RHD exon 10 non-coding region, affecting the accuracy of red cell genotyping.Journal of translational medicine · 2026Article
- Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.Bioinformatics (Oxford, England) · 2026Article
- Database ofKidney international reports · 2026Article
- The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.bioRxiv : the preprint server for biology · 2026Article
- Beyond Invariable Sites: Using Evolutionary Stasis to Map Multi-Layered Constraints on the Evolution of Viral and Mammalian Genomes.bioRxiv : the preprint server for biology · 2026Article
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.Clinical genetics · 2026Review
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
- RNA-sequencing based gene variants observed in patients with hyperlipidemia and premature coronary heart disease: A preliminary study.Biochemistry and biophysics reports · 2026Article
- Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.bioRxiv : the preprint server for biology · 2026Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundThe Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community engagement, website functionality, and underlying implementation of the standard.
methodsThe HGVS Variant Nomenclature Committee (HVNC) now operates under the Human Genome Organization (HUGO), facilitating broader community feedback and collaboration with related standards organizations. The website has been redesigned using modern documentation tools and practices. The specification was updated to include guidance for transcript selection and to align with recent cross-consortia recommendations for the representation of gene fusions. A formal computational grammar was introduced to improve the precision and consistency of variant descriptions.
resultsMajor improvements in HGVS Nomenclature v. 21.1 include a redesigned website with enhanced navigation, search functionality, and mobile responsiveness; a new versioning policy aligned with software management practices; formal mechanisms for community feedback and change proposals; and adoption of Extended Backus-Naur Form (EBNF) for defining syntax. The specification now recommends MANE Select transcripts where appropriate and includes updated guidance for representing adjoined transcripts and gene fusions. All content is freely available under permissive licenses at hgvs-nomenclature.org.
conclusionsThese 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.