Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Genome medicine - 20 Dec 2024

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

Abstract excerpt

BACKGROUND: The 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. METHODS: The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Variation
Share to Genome, Human

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genomics

Share to Guidelines as Topic

Share to Software

Share to Terminology as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 39702242
DOI: 10.1186/s13073-024-01421-5
PMCID: PMC11660784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.PMID 39702242Read ↗

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.Semantic proximity Read ↗

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.Semantic proximity Read ↗

Mutalyzer 2: next generation HGVS nomenclature checker.Semantic proximity Read ↗

Mutalyzer 2: Next Generation HGVS Nomenclature CheckerSemantic proximity Read ↗

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular VariationSemantic proximity Read ↗

The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organismsSemantic proximity Read ↗

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.Semantic proximity Read ↗

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.Semantic proximity Read ↗

Recommendations for the ethical and accurate use of population descriptors: a trainee-led survey of early-career researchersSemantic proximity Read ↗

GenMasterTable: A user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variantsSemantic proximity Read ↗

Sparse Project VCF: efficient encoding of population genotype matricesSemantic proximity Read ↗

Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.