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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

Usage metrics

    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 formatVCFBioinformatics Software

    Licence

    CC BY 4.0

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