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

Jan Higgins; Raymond Dalgleish; Johan T. den Dunnen; Greg Barsh; Peter J. Freeman; David N. Cooper; Sara Cullinan; Kay E. Davies; Huw Dorkins; Li Gong; Issei Imoto; Teri E. Klein; Bruce Korf; Adya Misra; Mark H. Paalman; Sarah Ratzel; Juergen K.V. Reichardt; Heidi L. Rehm; Katsushi Tokunaga; Karen E. Weck; Garry R. Cutting

doi:10.1002/humu.24144

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

Jan Higgins, Raymond Dalgleish, Johan T. den Dunnen, Greg Barsh, Peter J. Freeman, David N. Cooper, Sara Cullinan, Kay E. Davies, Huw Dorkins, Li Gong, Issei Imoto, Teri E. Klein, Bruce Korf, Adya Misra, Mark H. Paalman, Sarah Ratzel, Juergen K.V. Reichardt, Heidi L. Rehm, Katsushi Tokunaga, Karen E. WeckGarry R. Cutting

School of Medicine

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English (US)
Pages (from-to)	3-7
Number of pages	5
Journal	Human mutation
Volume	42
Issue number	1
DOIs	https://doi.org/10.1002/humu.24144
State	Published - Jan 2021

Keywords

ClinVar
DNA variants
Human Genome Variation Society
Leiden Open Variation Database

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.24144

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Higgins, J., Dalgleish, R., den Dunnen, J. T., Barsh, G., Freeman, P. J., Cooper, D. N., Cullinan, S., Davies, K. E., Dorkins, H., Gong, L., Imoto, I., Klein, T. E., Korf, B., Misra, A., Paalman, M. H., Ratzel, S., Reichardt, J. K. V., Rehm, H. L., Tokunaga, K., ... Cutting, G. R. (2021). Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals. Human mutation, 42(1), 3-7. https://doi.org/10.1002/humu.24144

Higgins, J, Dalgleish, R, den Dunnen, JT, Barsh, G, Freeman, PJ, Cooper, DN, Cullinan, S, Davies, KE, Dorkins, H, Gong, L, Imoto, I, Klein, TE, Korf, B, Misra, A, Paalman, MH, Ratzel, S, Reichardt, JKV, Rehm, HL, Tokunaga, K, Weck, KE & Cutting, GR 2021, 'Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals', Human mutation, vol. 42, no. 1, pp. 3-7. https://doi.org/10.1002/humu.24144

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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.",

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note = "Funding Information: Patricia Cornwall for excellent assistance in the preparation of this manuscript; Robert D. Steiner, MD, Editor in Chief, Genetics in Medicine for framing editorial issues and expectations regarding this guidance. Support was provided by the National Human Genome Research Institute (U41HG006834 to Heidi L. Rehm) and the National Institute of Diabetes and Digestive and Kidney Diseases (R01DK044003 to Garry R. Cutting) of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals LLC",

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AU - Rehm, Heidi L.

AU - Tokunaga, Katsushi

AU - Weck, Karen E.

AU - Cutting, Garry R.

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

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