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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 Clinical assertions are weighted by significance type, age of submission and submitter expertise category to filter outdated or incomplete assertions that otherwise confound interpretation.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 Variation IDs or dbSNP rsIDs, or with vcf files that are additionally annotated. Using sample sets ranging from 15,000-50,000 variants, we slice out problem variants in minutes without extensive computational effort (using only a personal computer) and corroborate recently reported trends of discordance hiding amongst the curated masses. With the rapidly growing body of variant evidence, most submitters and researchers have limited resources to devote to variant curation. Clinotator provides efficient, systematic prioritization of discordant variants in need of reclassification. The hope is that this tool can inform ClinVar curation and encourage submitters to keep their clinical assertions current by focusing their efforts. Additionally, researchers can utilize new metrics to analyze variants of interest in pursuit of new insights into pathogenicity.

SUBMITTER: Butler Iii RR

PROVIDER: S-EPMC5941247 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundMedication events in clinical settings are significant threats to patient safety. Analyzing and learning from the medication event reports is an important way to prevent the recurrence of these events. Currently, the analysis of medication event reports is ineffective and requires heavy workloads for clinicians. An automated pipeline is proposed to help clinicians deal with the accumulated reports, extract valuable information and generate feedback from the reports. Thus, the strategy of medication event prevention can be further developed based on the lessons learned.MethodsIn order to build the automated pipeline, four classic machine learning classifiers (i.e., support vector machine, Naïve Bayes, random forest, and multi-layer perceptron) were compared to identify the event originating stages, event types, and event causes from the medication event reports. The precision, recall and F-1 measure were calculated to assess the performance of the classifiers. Further, a strategy to measure the similarity of medication event reports in our pipeline was established and evaluated by human subjects through a questionnaire.ResultsWe developed three classifiers to identify the medication event originating stages, event types and causes, respectively. For the event originating stages, a support vector machine classifier obtains the best performance with an F-1 measure of 0.792. For the event types, a support vector machine classifier exhibits the best performance with an F-1 measure of 0.758. And for the event causes, a random forest classifier reaches an F-1 measure of 0.925. The questionnaire results show that the similarity measurement is consistent with the domain experts in the task of identifying similar reports.ConclusionWe developed and evaluated an automated pipeline that could identify three attributes from the medication event reports and calculate the similarity scores between the reports based on the attributes. The pipeline is expected to improve the efficiency of analyzing the medication event reports and to learn from the reports in a timely manner.

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Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts.

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