Summary
The quality of predictions made by variant effect prediction models correlates with actual pathogenicity in that gene (1).
Figures
Ref (1)
1.
Livesey BJ, Marsh JA. Variant effect predictor correlation with functional assays is reflective of clinical classification performance. Genome Biology. 2025;26(1). Available from: https://doi.org/10.1186/s13059-025-03575-w