Skip to content

Comments

Create cancer predisposition#9604

Open
MeeSiing wants to merge 4 commits intomasterfrom
MeeSiing-patch-4
Open

Create cancer predisposition#9604
MeeSiing wants to merge 4 commits intomasterfrom
MeeSiing-patch-4

Conversation

@MeeSiing
Copy link
Collaborator

created a dosdp pattern for cancer predisposition

dosdp pattern for cancer predisposition
Copy link
Collaborator

@sabrinatoro sabrinatoro left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@MeeSiing
Please see my comment in the text, though you might need to go back to the commit to see what these comments refer to. In addition, the name of the file should be cancer_predisposition.yaml (the ".yaml" is important)

I am submitting changes. You can see them in the next commit so you can see what I changed.


pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/cancer_predisposition.yaml

description: 'This pattern should be used for terms in which hereditary cancer predisposition due to variation(s) in a gene confers the predisposition to a cancer.
Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

The closing apostrophe is missing.

- https://orcid.org/0000-0002-7638-4659

classes:
cancer or benign tumor: MONDO:0700096
Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

this is the wrong ID for cancer or benign tumor

- gene

annotations:
- annotationProperty: exact_synonym
Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

This synonym is not usually used. I don't think there is a commonly used synonym.
Also, this synonym would not be correct all the time since some of these susceptibilities are not to tumors.

text: Hereditary cancer predisposition due to variation (s) in %s, which confers the predisposition to a %s.
vars:
- gene
- cancer
Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

"cancer" is not defined as a variable. you named the variable "disease" in line 24

@sabrinatoro
Copy link
Collaborator

@matentzn and @cmungall could you please take a look at this new pattern?
Thanks!

@sabrinatoro sabrinatoro assigned cmungall and matentzn and unassigned sabrinatoro Sep 30, 2025
text: '''hereditary neoplastic syndrome'' and (''has material basis in germline mutation in'' some %s)'
vars:
- gene
- cancer No newline at end of file
Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

It makes no sense to have cancer as var here unless you mention it in the definition

vars:
- gene
- cancer
#note that the cancer variable is not always known, or might be variable (ie their could be more than one term)
Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

This is not great.. In this case you need more than one pattern, one were the target predisposition is known, and one where its not. (and if there are cases where there is more than one, I dont remember if dosdp can do that, probably)

name:
text: '%s-related cancer predisposition'
vars:
- gene
Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

either always cancer variable or never



equivalentTo:
text: '''hereditary neoplastic syndrome'' and (''has material basis in germline mutation in'' some %s)'
Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Missing: and (''predisposes_towards'' some %s)

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

4 participants