Figure 8.

Force plot showing contributions of individual attributes towards the final prediction for a CNV causing Prader-Willi and Angelman syndrome (chr15:22760000–28560000). Bars represent individual attributes contributing to the prediction of this CNV with bar widths reflecting the strength of each attribute. In this case, all attributes contribute to the pathogenicity of the CNV, however, this will not always be the case. The base value represents the prior baseline value, from which the individual contributions are added/subtracted. If values of all attributes were equal to 0, the final prediction would be equal to the base value. Attributes are in order according to their strength in the prediction while “regulatory elements” being the most contributing genomic attribute. Hi-genes = haploinsufficient genes. The plot was constructed by utilizing functions from the SHAP package²⁹ (version 0.37.0).