Article

Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts

2018-06-20

Abstract excerpt

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 is a fast and lightweight tool to extract important aspects of criteria-based clinical assertions; it uses that info...

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Literature Corpus work: ea16d7d7-b4d1-5db7-a2dd-55daa78e4099
DOI: 10.12688/f1000research.14470.2

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