Skip to content

Cases

Cases

This page displays the list of active cases for a particular institute. Each item links to the detailed view for that case. You can filter the list by typing into the search box above the list.

A quick link to get straight to the list of all clinical variants is also displayed. To indicate what cases have recently been added/updated, a "last updated" date is also displayed.

Sometimes you will also see a cyan colored dot to the left of the case ID. This is an indicator that there's been some recent activity in the case such as a new comment.

Your name will be tagged for each case that is assigned to you. For cases that are assigned to other people you will see a tag "ASSIGNED".


Case

This is the detailed view of one individual case. The intended use is to give a concise overview of the family under investigation and show recent activity related to the case.

Case report page

It can be visualized by clicking on the 'Visualize report' link on the left sidebar present on the case view. The case report contains a phenotype info panel as well as an overview of the gene panels used for the analysis. This page is showing also any variant users have been interacting with when working with the case: causative variants, variants pinned as candidates, ACMG or otherwise manually classified variants, as well as variants with any comment field. At the bottom of the report page the 'Dismissed variants' panel lists all variants that have been dismissed, with the reason(s) why they were rejected as candidates. By clicking on the top right button the case report can be exported and saved into a PDF file.

Pinned variants

There's a list of "Strong candidates" on the page. This list is curated by the collaborators and consists of "pinned" variants from the variants list. This feature can be used to mark variants of particular interest that you might want to highlight to other users. Pinned variants for cases with at least one assigned HPO phenotype can be used to produce Clinvar submission files (See more under "Variant").

Misc.

The case page also displays a simple wiki-style synopsis on the current case that can be used to communicate information on the case to collaborators.

Rank model version shows which rank model that has been used to rank the variants in the case

The "Activity" feed is a reverse chronological list of events and comments related to the case. Examples of events include comments, status updates, assignments, Sanger sequencing orders etc.

Actions

There are a few actions you can take on this page.

Adopt case: By clicking the button next to "Adopt" you can assign yourself to a case. More than one person can be assigned to a case, e.g. if multiple professions or institutes are involved in analysis. If you have assigned yourself to a case you can click your name to "unassign".

The case can be moved to "Research" which means all variants will be made visible for the entire exome. Clicking "Open research" will notify the administrators of the site. The user agrees that she is reponsible to have acquired an informed consent relevant for this action. This will also be logged as a new event in the case log.

Edit case synopsis: The case sysnopsis can be edited in a format known as [Markdown][markdown]. Just click "EDIT" to open the editor view. When you are finished click "SAVE" to save changes or "CANCEL" to abort.

Comment: You can leave comments in the activity log by writing a message in the input box next to the feed. Click "COMMENT" to submit the comment.