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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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F1000 Research Limited
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941247/ https://www.ncbi.nlm.nih.gov/pubmed/29862020 http://dx.doi.org/10.12688/f1000research.14470.2 |