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

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    Author
    Dorkins, Huw
    Keyword
    ClinVar
    DNA variants
    Human Genome Variation Society
    Leiden Open Variation Database
    Date
    2021-01
    
    Metadata
    Show full item record
    Publisher's URL
    https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.24144
    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.
    Citation
    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., Rehm, H. L., Tokunaga, K., Weck, K. E., … 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
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15359
    Collections
    Genetics

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