ClinVar
A public database of clinical genetic variants maintained by the National Center for Biotechnology Information (NCBI). It catalogues known disease-associated genetic variants along with annotations of their clinical significance, and serves as an important benchmark dataset for evaluating AI-based variant pathogenicity prediction tools.
Timeline (last 90 days)
Major global genetic variant databases (such as ClinVar) have accumulated millions of records of variants of uncertain significance (VUS).
Commonly used benchmarks for evaluating AI genomics tools include discriminative ability (AUC/AUROC) on clinical variant databases such as ClinVar, recall rates on pathogenic variant sets for Mendelian diseases, and performance consistency across cohorts of different ancestral populations.
All Facts (2)
Major global genetic variant databases (such as ClinVar) have accumulated millions of records of variants of uncertain significance (VUS).
50%UnverifiedCommonly used benchmarks for evaluating AI genomics tools include discriminative ability (AUC/AUROC) on clinical variant databases such as ClinVar, recall rates on pathogenic variant sets for Mendelian diseases, and performance consistency across cohorts of different ancestral populations.
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