Fig. 4

Flow diagram of the proposed logic for applying variant co-localisation data. Standard PM5 based on variants at the same position in the same protein (left) is augmented by variants at equivalent meta-positions in domains across different proteins (right). Numbers represent the number of variants at each step if the logic were applied to the pathogenic variants selected for this study. The analysis allows for the classification of an additional 5281 variants missed by the standard analysis, increasing the sensitivity from 0.27 to 0.41