Human Mutation · 2018 · 155 citations · 13 references
Life SciencesBioinformaticsBiomedical InformaticsGenomic Data AnalysisGenomic InformaticsGenomicsVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationVariant TrackingClinical Variant CurationClinvar CurationData Management PlatformsOversightUse CasesVariant DiscoveryVariant FilteringVariant Management
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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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
ClinVar: public archive of interpretations of clinically relevant variants
Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text
Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text