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Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts

While ClinVar has become an indispensable resource for clinical variant interpretation, its sophisticated structure provides it with a daunting learning curve. Often the sheer depth of types of information provided can make it difficult to analyze variant information with high throughput. Clinotator...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Butler III, Robert R., Gejman, Pablo V.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5941247/
https://ncbi.nlm.nih.gov/pubmed/29862020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.14470.2
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