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gget opentargets -r diseases #168

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adeslatt opened this issue Nov 18, 2024 · 0 comments
Open

gget opentargets -r diseases #168

adeslatt opened this issue Nov 18, 2024 · 0 comments

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@adeslatt
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What happened?

When we run the gget opentargets -r diseases we get a score but if you go to the opentargets view for the same ensemble ID you get a table with a number of scores -- it is not clear two things:

  1. it isn't your fault it seems but OpenTargets reports an EFO measurement as a disease -- for example if you use LILRA4 you will see there is an score of 0.34 which appears to be the association score
 gget opentargets ENSG00000239961 -r diseases | grep -B6  -A1 '\"score\":0.3'

returns

    {
        "id":"EFO_0007937",
        "name":"blood protein measurement",
        "description":"quantification of the levels of some protein in a blood sample",
        "score":0.3370941177
    }

EFO is not the OBO foundry's ontology for disease -- but a measurement - which it confirms - which if you dig you see is the measurement of the LILRA4 protein in the blood and if you look at the table you see in (opentargets disease associations)[https://platform.opentargets.org/target/ENSG00000239961/associations] there are animal model evidence for mondo diseases that have a weak association score but a pretty good (0.48) score on the animal model for a MONDO termed disease.
but the issue is that though opentargets returns this - should you as the creator of this tool prevent non Mondo terms from presenting themselves as a disease?

  1. Looking at the webpage it seems we should adjust this call to allow a user to choose which of the 23 terms to choose evidence for -- so I guess this becomes a feature request.

gget version

gget version: 0.29.0

Operating System (OS)

macOS

User interface

Command-line

Are you using a computer with an Apple M1 chip?

Not applicable

What is the exact command that was run?

gget opentargets ENSG00000239961 -r diseases | grep -B6 '\"score\":0.3'

Which output/error did you get?

{
        "id":"EFO_0007937",
        "name":"blood protein measurement",
        "description":"quantification of the levels of some protein in a blood sample",
        "score":0.3370941177
    },
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