-
Notifications
You must be signed in to change notification settings - Fork 30
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
Fixing several small documentation bugs #385
Conversation
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
Looks fine but there is not reason for the change in interpretation/Miller syndrome
Hi @pnrobinson |
gene symbols should alsways be italicized! |
@pnrobinson I went through the docs to italicize the gene symbols (where appropriate, not in a publication title, or in a hyperlink target) and while doing that I also fixed a few typos. Please review, thank you! |
@@ -150,7 +150,7 @@ with the hypothetical gene YFG42. | |||
id: "OMIM:263750" | |||
label: "Miller syndrome" | |||
genomicInterpretations: | |||
- interpretationStatus: "CONTRIBUTORY" | |||
- interpretationStatus: "CANDIDATE" |
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
In this case the interpretationStatus should be CAUSAL, this was a published case!
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
Well, it may have been published, but is that relevant in the context of this example and, specifically, in the context of the previous paragraph?
Research consortia may exchange information about candidate genes in which an undisclosed
variant was found that was assessed to be possibly related to a disease or phenotype but
for which insufficient evidence is available to be certain. The intention is often to find
other researchers with similar cases in order to subsequently share detailed information in
a collaborative project.
Based on the table below, shouldn't the status be set to CANDIDATE
, if "the research consortium found a variant with insufficient evidence"?
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
Maybe it does not fit well with the description, but it si not wrong, I will merge
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
One small change requested then we can merge!
@julesjacobsen
The PR fixes several small inaccuracies in the documentation, mostly deviations from the protobuf schema.
Fixes #316, #339, #344, #350, #351