Distribution of the developed models on current VUS
Finally, we ran our models on a set of ClinVar variants currently
classified as VUS (Figure 4). The Random Forest model predicts that
approximately three quarters of the variants to be pathogenic and one
quarter benign. On the distribution of probability of pathogenicity,
there is a sharp peak in values of probability of pathogenicity close to
1, and a less marked peak in values around thirty percent. The support
vector machine model predicts that approximately two thirds of the
variants to be pathogenic and one third benign. On the distribution of
probability of pathogenicity, there is a sharp peak in values of
probability of pathogenicity close to 1, and a less marked peak in
values close to zero. The multilayer perceptron model predicts
approximately three quarters of the variants to be pathogenic and one
quarter benign. Its distribution of probability behaves in a similar
fashion to the SVM model.