Fig. 2

Results of assessment using the 14 solved families (true positives). A Number of true positive diagnoses (y-axis) identified per model (x-axis) colored by the rank position of the causal variants in the 14 solved probands. Models are ordered by their performance according to the mean rank points metric (Table 2). Team names are provided except for teams that elected to remain anonymous. B Results of the mean rank points and F-max value numeric assessment metrics by team and model. Model 1, the primary model, for each team is indicated by the grey fill. C, Performance of models, according to the mean rank points awarded, comparing families with proband-only or duo data (i.e., an incomplete trio/quad) versus trio or quad data (i.e., a complete trio/quad)