Editing an existing case

If you would like to update or make corrections your case details, phenotypes or gene list, you have the option to edit the case and save or reanalyze the data.

How to edit case data:

  1. Open a case,

  2. Press Edit case info button in the top right corner,

  3. You'll access the Add new case flow. You can edit any information on the Family tree screen, as well as Select genes list, Select preset, and Additional case info sections of the Case info screen.

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

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.

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