BayesDel

BayesDel is a meta-score that assesses the deleteriousness of genetic variants, including single nucleotide variants and small insertion/deletions, coding or non-coding. Variants with a higher score are more likely to be pathogenic. The current version is 1.0 (build date 2017-08-24).

A universal cutoff value (0.0692655 with MaxAF, -0.0570105 without MaxAF) was obtained by maximizing sensitivity and specificity in classifying ClinVar variants. These cutoff values were designed for gene discovery research, not clinical operations. For clinical variant classification, please refer to Pejaver et al. Am J Hum Genet. 2022 (PMID: 36413997).