Skip to content
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

Pickier ingest of xrefs/associated_with #172

Open
jsstevenson opened this issue Dec 2, 2023 · 2 comments
Open

Pickier ingest of xrefs/associated_with #172

jsstevenson opened this issue Dec 2, 2023 · 2 comments
Labels

Comments

@jsstevenson
Copy link
Member

jsstevenson commented Dec 2, 2023

For source data that provides qualifiers/scope for xrefs, I think we'd like to stick with narrow mappings (eg exactMatch, equivalentTo) rather than broad mappings (eg relatedTo). There are cases where we aren't doing this, though, such as Mondo (example: in Mondo, Hirschsprung disease-ganglioneuroblastoma syndrome includes a relatedTo reference to Orphanet:635 (regular neuroblastoma) (link)

@jsstevenson
Copy link
Member Author

Now that we're commiting to OBO in #171, some more context. Here's the example for MONDO:0013082, "Hirschsprung disease-ganglioneuroblastoma syndrome":

[Term]
id: MONDO:0013082
name: Hirschsprung disease-ganglioneuroblastoma syndrome
def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." [Orphanet:2151]
subset: ordo_malformation_syndrome {source="Orphanet:2151"}
subset: predisposition
synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695]
synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013]
xref: MESH:C538119 {source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"}
xref: Orphanet:2151 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="OMIM:613013", source="MONDO:relatedTo"}
xref: UMLS:C2751683 {source="OMIM:613013", source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"}
is_a: MONDO:0015246 {source="Orphanet:2151"} ! syndromic anorectal malformation
is_a: MONDO:0021189 {source="Orphanet:2151"} ! intestinal motility disease
property_value: exactMatch http://identifiers.org/mesh/C538119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751683
property_value: exactMatch Orphanet:2151

Orphanet:635 is provided as a "related" concept in a trailing qualifier. Unfortunately, OBO parsers don't really have to include material in that section:

Parser implementations may choose to decode and/or round-trip these trailing modifiers. However, this is not required. A parser may choose to ignore or strip away trailing modifiers.

For this reason, trailing modifiers should only include information that is optional or experimental.

https://owlcollab.github.io/oboformat/doc/GO.format.obo-1_4.html#S.1.4

The fastobo Rust crate does parse them, but fastobo-py doesn't provide a way to capture them, yet.

Another option is to look into the SSSOM-provided mappings, because they probably can be used to scope xrefs.

Copy link

This issue is stale because it has been open 135 days with no activity. This issue will be closed if no further activity occurs in 14 days.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
Projects
None yet
Development

No branches or pull requests

1 participant