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VariantValidator paper in Human Mutation

journal contribution
posted on 2018-10-24, 14:28 authored by Raymond DalgleishRaymond Dalgleish, Peter Causey-FreemanPeter Causey-Freeman, Liam J Gretton, Anthony J Brookes
This is the first published account of the VariantValidator software for the validation of variant descriptions presented in HGVS format.

Funding

Wellcome Trust (097828/Z/11/B).

History

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    Genetics and Genome Biology

    Categories

    Keywords

    HGVS variant nomenclaturereference sequences, sequence variants, sequence variation, validation, variant call format, VCFreference sequencessequence variants,sequence variation,validationvariant call formatVCF

    Licence

    CC BY 4.0

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