Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals. Issue 1 (10th December 2020)

• Record Type: Journal Article
• Authors: Higgins, Jan; Dalgleish, Raymond; den 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.; Cutting, Garry R.
• Is Part Of: Human mutation. Volume 42:Issue 1(2021)
• Page Start: 3
• Page End: 7
• Publication Date: 2020-12-10
• Subjects: ClinVar -- DNA variants -- Human Genome Variation Society -- Leiden Open Variation Database; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24144
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: 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.