Fig. 4
SHAP Beeswarm Plots for CNVoyant pathogenic classification. SHapley Additive exPlanations (SHAP) values are provided to illustrate the impact of genomic features on the machine learning classification of CNVs SHAP values offer a measure of each feature's contribution to the model's prediction, with higher absolute values indicating greater influence. Separate models were trained for (a) CNV deletions and (b) duplications; beeswarm plots are provided for each. Each point in the graph indicates a feature value for a specific training CNV. Positive SHAP values indicate that features support a pathogenic classification, and negative values detract from a pathogenic classification. The color intensity reflects the magnitude of feature values. Features are displayed in descending order by influence on the model's decision. Detailed feature descriptions are provided in the CNVoyant Feature Selection section of the Methods.
