Reviewing results

Once the analysis is completed, the relevant results page, either the Shortlist (if having conducted an automated analysis with at least 1 HPO term) or Filter view, will be displayed. A trained professional in human genetics can subsequently critically review the outputted results. The following articles provide more information on how results are displayed for both the automated and manual analysis, and how results can be reviewed at the variant level:

• Shortlist

• SNV Variant display

• SV Variant display