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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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Detalles Bibliográficos
Autores principales:	Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Informatics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765404/ https://www.ncbi.nlm.nih.gov/pubmed/28967166 http://dx.doi.org/10.1002/humu.23348

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