Fig. 6

PathOS screenshots showing the curation workflow. The curator navigates to the screen on the left displaying all variants (filtered and unfiltered) for a sample. Using an existing search template or a user configurable search dialogue, high priority variants are selected for curation. Previously curated and known variants are shown at the top of the list together with their classification. New variants can be added to the curation database by selecting the “Curate” checkbox. The curator then selects from a set of evidence checkboxes (right screen) characterising the mutation. Details are displayed when the mouse hovers over the checkbox to guide the curator’s selection. When the evidence page is saved, the five-level classification is automatically set as adapted from the ACMG guidelines for classification of germline variants