biostudies-literatureHiggins JNIDDK NIH HHSNHGRI NIH HHSNIGMS NIH HHS3-7https://www.ebi.ac.uk/biostudies/studies/S-EPMC7961887biostudies-literatureUnknown42(1)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.Human mutationVerifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.PMC7961887R24 GM061374R01 DK044003U41 HG006834U24 HG010615Paalman MHKlein TETokunaga KFreeman PJRehm HLHiggins Jden Dunnen JTReichardt JKVCullinan SCooper DNMisra ABarsh GDavies KEImoto IKorf BDorkins HGong LRatzel SDalgleish RWeck KECutting GRfalseVerifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.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.2021-01-01T00:00:00Z2021 Jan2025-04-03T21:34:10.157Z2025-04-03T21:34:10.157ZS-EPMC79618873325217610.1002/humu.24144