Editing an existing case

If you need to update your case details, adjust phenotypes, change the gene list, or customize disease information for reporting, Emedgene allows you to edit an existing case directly from the interface. Depending on what you modify, some edits may prompt reanalysis, while others will simply be saved without triggering a new run.

How to edit case data:

1. Open a case you wish to edit,

2. Click the Edit Case Info button in the top right corner.

3. This will open the Add new case flow where you can modify fields across the following sections:

   1. Family Tree

   2. Select Gene List

   3. Select Preset

   4. Additional Case Info (in the Case Info Screen)

Note: When dealing with delivered cases, only specific data can be modified before initiating reanalysis:

Edits that won't affect the the AI Shortlist analysis, thus won't prompt reanalysis:

1. Family tree screen:

   1. Clinical Notes,

   2. Patient Ethnicities,

   3. Suspected Disease Severity,

   4. Proband Suspected Disease Condition,

   5. Suspected Disease Penetrance.

2. Case info screen:

   1. Indication for testing,

   2. Preset.

Edits that will affect the the AI Shortlist analysis, thus will trigger reanalysis:

1. Family tree screen:

   1. Proband Phenotypes,

   2. Medical Condition.

2. Case info screen:

   1. Genes list;

   2. Case Type.

⚠️ Any other modifications might result in reanalysis failure, so it's advisable to create a new case instead of modifying beyond these specified fields.

1. After you've finished editing the case and pressed Next in the Case info screen, a window will pop up:

Reanalyze

Select Reanalyze if you want to rerun the case.

The reanalysis will update the annotation with the latest ones available and rerun the AI Shortlist analysis. Since analysis output depends upon the data entered, we highly recommended rerunning the edited case. Case status will change to Reanalysis.

Importantly, variant-level evidence from the first run is erased during reanalysis, EXCEPT for variants tagged by or confirmed by the user.

Please find below a list of variant level evidences saved for variants tagged by the user during reanalysis:

1. Tag value

2. Variant interpretation notes

3. Pathogenicity

4. Selected transcript

5. ACMG tags and notes

6. Sanger and Sanger notes

In addition, at a case level, the checked Presets will be saved as well.

Save

Select Save if you want to save changes without rerunning the case.

Keep in mind that if you've changed Proband phenotypes, results from Phenomatch filters still may change. A reminder that case data has been modified and prompt to launch reanalysis on the updated data will appear in the Case details panel on the right.