Using presets in case review

Presets help you quickly apply predefined filtering conditions during case analysis.

You can:

• Apply a preset: Filter variants quickly without manually setting conditions.

• View preset logic: Expand a preset to see the filtering conditions it applies.

• Refine filtering through variant search: Narrow preset results with additional filters without changing the preset itself.

• Mark a preset as reviewed: Coordinate with your team and prevent duplicate work.

Applying a preset

Presets let you filter variants without manually setting conditions.

To apply a preset:

1

In the Filtering panel, go to the Presets tab.

2

Select the name of the preset you want to apply.

Result: The variant list updates according to the preset’s filtering conditions.

Viewing preset logic

You can expand a preset to see exactly which filtering logic it applies.

To inspect preset logic:

1

In the Filtering panel, go to the Presets tab.

2

The tab displays a list of presets included in the preset group selected for the case.

3

Select the expand icon () next to a preset name to view its filtering conditions.

4

Click on the collapse icon () to close.

Result: The filtering conditions included in the preset are listed.

Preset logic in the Presets tab is view-only. To modify preset logic, go to Lab workflow settings.

Refining filtering through variant search

Variant search lets you refine preset results by applying additional conditions without changing the preset itself. For example, you can reduce a multi-gene preset to a single gene.

To apply refinement filters:

1

In the Filtering panel, go to the Presets tab.

2

In the variant search box, enter one or more queries. See Variant search for details on query building.

Result: Filters applied through variant search intersect the results of each preset in the preset group selected for the case in real time. These refinements are temporary and do not modify the preset’s saved logic.

To remove refinement filters:

• To clear an individual filter, select next to it.

• To remove all filters, click the vertical ellipsis () in the upper-left corner to open the actions menu and select Reset to default.

Save the refined preset as part of a custom preset group if you want to reuse it within the same case.

Marking a preset as reviewed

Marking presets as reviewed helps teams coordinate and avoid duplicate work.

To mark a preset:

1

In the Filtering panel, go to the Presets tab.

2

Select the checkbox next to the preset name.

Result: The preset is marked as reviewed. This marking is visible to all analysts working on the case. Presets marked as reviewed can still be revisited at any time.