Skip to main content
Figure 4 | BMC Genomics

Figure 4

From: Better prediction of functional effects for sequence variants

Figure 4

SNAP2 threshold and reliability. The reliability index provides a means of focusing on the most accurate predictions. Panel (a) shows SNAP2 performance on the balanced PMD/EC data set over the entire spectrum of accuracy (solid lines) and coverage (dotted lines) for both effect (red) and neutral (green) variants depending on the chosen threshold (x-axis). The default threshold was set to -0.05, where neutral and effect predictions performed alike (black arrow). By moving the decision threshold users can optimize predictive behavior towards their research needs: predictions at higher absolute scores (e.g. TP>0.5 or TN<-0.5) are much more likely correct but they are not available for all variants. Panel (b) directly relates the reliability index (RI) to the performance on our data. Shown is the cumulative percentage of predictions (x-axis) against accuracy (solid lines) and coverage (dotted lines) above a given reliability index (RI; Methods). Accuracy and coverage are shown separately for neutral (green) and effect (red) predictions. Each marker depicts a reliability threshold ranging from 0 (right most marker, low reliability) to 9 (left most marker, high reliability). Labels for RI >= 2, 4 and, 6 are skipped for simplicity. For instance, 58% of all predictions in our cross-validation were made at reliability levels of 7 or higher (gray arrows). At this reliability, 95% of all effect predictions and 90% of all neutral predictions were correct.

Back to article page