Ioannidis et al., 2019, reported the development of the REVEL score (rare exome variant ensemble learner) for redefining pathogenic variant classification, and Tian et al., 2019, reported that it along with BayesDel outperformed other in silico meta-predictors for clinical variant classification. REVEL is an ensemble method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. Rather than going with a REVEL score above 0.5, is there any other criteria for choosing an appropriate cut-off threshold to help interpretation of disease variants?

More Linda Koshy's questions See All
Similar questions and discussions