The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Open accessAbstract
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
O'Leary, N. A., Wright, M. W., Brister, J. R., Ciufo, S., Haddad, D., McVeigh, R., Rajput, B., Robbertse, B., Smith-White, B., Ako-Adjei, D., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1189 · Cited by 6,357
Self-citation
Cited by
The 2021 WHO classification of tumors of the central nervous system: a summary
Louis, D. N., Perry, A., Wesseling, P., Brat, D. J., Cree, I. A., Figarella-Branger, D., Hawkins, C., Ng, H. K., Pfister, S. M., Reifenberger, G., et al. (2021) · Neuro-Oncology · doi:10.1093/neuonc/noab106 · Cited by 12,273
Zerbino, D. R., Achuthan, P., Akanni, W., Amode, M. R., Barrell, D., Bhai, J., Billis, K., Cummins, C., Gall, A., Girón, C. G., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1098 · Cited by 2,605
Cunningham, F., Allen, J. E., Allen, J., Alvarez-Jarreta, J., Amode, M. R., Armean, I. M., Austine-Orimoloye, O., Azov, A. G., Barnes, I., Bennett, R., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkab1049 · Cited by 1,923
VarSome: the human genomic variant search engine
Kopanos, C., Tsiolkas, V., Kouris, A., Chapple, C. E., Albarca Aguilera, M., Meyer, R., & Massouras, A. (2019) · Bioinformatics · doi:10.1093/bioinformatics/bty897 · Cited by 1,883
ClinVar: improvements to accessing data
Landrum, M. J., Chitipiralla, S., Brown, G. R., Chen, C., Gu, B., Hart, J., Hoffman, D., Jang, W., Kaur, K., Liu, C., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkz972 · Cited by 994
Self-citation
Metadata
- Authors
- den Dunnen, J. T., Dalgleish, R., Maglott, D. R., Hart, R. K., Greenblatt, M. S., McGowan-Jordan, J., Roux, A.-F., Smith, T., Antonarakis, S. E., Taschner, P. E. M., & on behalf of the Human Genome Variation Society (HGVS), T. H. V. P. (.
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2016-03-25
- Volume
- 37
- Issue
- 6
- Pages
- 564-569
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2309021002
- Cited by
- 1,653
- References
- 2
- FWCI
- 97.36
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: HGVS Recommendations for the Description of Sequence Variants: 2016 Update. https://app.cochat.ai/papers/10.1002/humu.22981
- The paper
- den Dunnen, J. T., Dalgleish, R., Maglott, D. R., Hart, R. K., Greenblatt, M. S., McGowan-Jordan, J., Roux, A.-F., Smith, T., Antonarakis, S. E., Taschner, P. E. M., & on behalf of the Human Genome Variation Society (HGVS), T. H. V. P. (. (2016). HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Human Mutation. https://doi.org/10.1002/humu.22981
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
