Documents & Announcements

ClinVar Miner: Demonstrating Utility of a Web-based Tool for Viewing and Filtering ClinVar Data

Alex Henrie, Sarah E. Hemphill, Nicole Ruiz-Schultz, Brandon Cushman, Marina T. DiStefano, Danielle Azzariti, Steven M. Harrison, Heidi L. Rehm, Karen Eilbeck

Abstract

ClinVar Miner is a Web-based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render the data more accessible to processes pertaining to conflict resolution of variant interpretation as well as tracking details of data submission and data management for detailed variant curation. Here, we establish the use of these tools to address three separate use cases and to perform analyses across submissions. We demonstrate that the ClinVar Miner tools are an effective means to browse and consolidate data for variant submitters, curation groups, and general oversight. These tools are also relevant to the variant interpretation community in general.

Date May 23, 2018
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