Fig. 3

Interface of Cruxome. A. Home page of Cruxome, which shows a module list (left panel) and overview of all the information of samples under user’s account (right panel). Users enter the submodule by clicking the corresponding text in the left panel. B. To perform an interpretation, click “Add” button in “Sample Management” module, and input the patient’s information in the pop-out window. C. After Cruxome finishes interpretation process, a detailed list of variants with annotation and ACMG classification is produced. Users can review the interpretation of variants and examine the literature and bam file by clicking corresponding button. Candidate variants could be marked as “Positive” or “Negative” by clicking “/” in conclusion column. D. After entering the “Generate Report” page, users can easily export a clinically standardized report with the inclusion of all supported knowledges by choosing the “Positive conclusion” or “Negative conclusion” checkbox. Report can be found in “Report Management” module