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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open‐so...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765404/
https://ncbi.nlm.nih.gov/pubmed/28967166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23348
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