Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts.

ABSTRACT: 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 information to generate several metrics to assess the strength and consistency of the evidence supporting the variant clinical significance. Clinical assertions are weighted by significance type, age of submission and submitter expertise category to filter outdated or incomplete assertions that otherwise confound interpretation. This can be accomplished in batches: either lists of Var

SUBMITTER: Butler Iii RR 

PROVIDER: S-EPMC5941247 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature