Publication | Open Access
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
148
Citations
13
References
2018
Year
EngineeringClinvar Miner ToolsGeneticsData ExplorationClinvar MinerGenomicsBioinformatics DatabaseInformation RetrievalData ScienceData MiningMolecular EcologyWeb-based ToolComputational GenomicsData IntegrationBiostatisticsData Pre-processingData ManagementBiological DatabaseKnowledge DiscoveryStatistical GeneticsOmicsGenetic VariationComputer ScienceBioinformaticsFunctional GenomicsClinvar ArchiveNext-generation SequencingOmics DatasetsComputational BiologyMedicineData ModelingClinvar Data
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.
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