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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Online dostop: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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