exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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An error: comparison of unrelated phenotypes #490

Open jagcsun opened 1 year ago

jagcsun commented 1 year ago

@pnrobinson In one of the exomiser comparisons of phenotypes of a patient and a known disease from OMIM, a reported match does not have a common parental term in HPO: HP:0032239, Increased circulating band cell count - HP:0002282, Gray matter heterotopia

julesjacobsen commented 1 year ago

@jagcsun can you post this on the HPO tracker please

pnrobinson commented 1 year ago

@julesjacobsen -- this is not an HPO issue (AFAICS), I think there is a bug with owlsim or some other issue, as I have seen similar errors multiple times. Given the plans for revising owlsim, it is probably best not to try to fix the old code but to add some unit tests for the new code that check for this error (can we do this with some template -- none of the terms from one subontology should be matched with terms from another)

julesjacobsen commented 1 year ago

Ah, sorry I should have looked more closely. Let's leave this open here and revisit it when the new owlsim data is being incorporated.

damiansm commented 1 year ago

Dear Jagadish,

Can you give us more info on which version of Exomiser software and databases you are using. I can see in the latest there is definitely no match between those two terms. Wondering if it is a legacy issue?

Best wishes Damian

On Tue, Apr 18, 2023 at 7:14 PM Jules Jacobsen @.***> wrote:

Ah, sorry I should have looked more closely. Let's leave this open here and revisit it when the new owlsim data is being incorporated.

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