Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals

Higgins, Jan, Dalgleish, Raymond, Dunnen, Johan T., Barsh, Greg, Freeman, Peter J., Cooper, David N., Cullinan, Sara, Davies, Kay E., Dorkins, Huw, Gong, Li, Imoto, Issei, Klein, Teri E., Korf, Bruce, Misra, Adya, Paalman, Mark H., Ratzel, Sarah, Reichardt, Juergen K. V., Rehm, Heidi L., Tokunaga, Katsushi, Weck, Karen E. and Cutting, Garry R. 2021. Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals. Human Mutation 42 (1) , pp. 3-7. 10.1002/humu.24144

[thumbnail of COOPER+David+-+Variant+Compliance+commentary_7.22.20.pdf] PDF - Accepted Post-Print Version
Download (278kB)


Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify that variants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Wiley
ISSN: 1059-7794
Date of First Compliant Deposit: 18 December 2020
Date of Acceptance: 19 November 2020
Last Modified: 30 Nov 2021 16:22

Citation Data

Cited 5 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics