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ClinVar


NAR Molecular Biology Database Collection entry number 1570
Maglott, Donna; Landrum, Melissa; Church, Deanna; Lee, Jennifer M; Riley, George; Jang, Wonhee; Rubinstein, Wendy
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894, USA

Database Description

ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) is a versioned archive of submissions reporting genotype, phenotype, clinical interpretation and supporting evidence, including observations in affected or unaffected individuals, animal models, in vitro assays, and in silico predictions. Once data are accumulated in standardized structures, they can be reviewed by experts. ClinVar provides infrastructure for such deliberations, and captures decisions attributed to the group contributing the intellectual effort. In other words, ClinVar accepts both submitted reviews of clinical interpretation by authoritative groups and primary data. To identify genes and variations about which some assessment of pathogenicity has been made, ClinVar integrates data from OMIM®, GeneReviews, the Genetic Testing Registry, locus-specific databases, as well as multiple testing laboratories. Common variation without such assessments are also reported. Users can interrogate ClinVar starting at different points--by genomic location, by phenotype, by gene, by associated citation—to name a few. Users can retrieve data interactively, or download reports after submitting large sets of variation calls, such as from high-throughput sequencing. Data are also accessible by interactive browsing, ftp, and NCBI E-utilities. These modes are intended to facilitate integration of ClinVar into clinical interpretation analysis workflows. ClinVar welcomes data sharing with resources maintaining information on human variation. For example, ClinVar is the data repository for the proposed U.S. node of the Human Variome Project (HVP).


Go to the abstract in the NAR 2014 Database Issue.
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