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Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts [version 1; referees: 2 approved]

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Robert R. Butler III, Pablo V. Gejman
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: F1000 Research Ltd 2018-04-01
Saila:F1000Research
Sarrera elektronikoa:https://f1000research.com/articles/7-462/v1
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