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DO NOT MERGE: Data build for #693 #694

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DO NOT MERGE: Data build for #693 #694

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matentzn
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Data build for #693

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@joeflack4 joeflack4 left a comment

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LGTM!

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@joeflack4 joeflack4 Nov 19, 2024

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Just observing larger than expected diff here in the signature files / unmapped .owl. I guess a new, large update from OMIM.

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@twhetzel twhetzel Nov 20, 2024

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@joeflack4 Haven't you made some changes to OMIM content representation recently? Can you think of some ways you could confirm if these gene additions and removals make sense by spot checking a few entries?

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From what I can see, my local mondo-genes.robot.tsv in omim repo should be a good reference to compare the HGNC IDs that appear there against what's in the mirror/component signatures in mondo-ingest. This file doesn't get committed so I can't check a diff, but face checking a few add/deletions, it looks consistent.

It is in a very separate part of the pipeline than the Gene-to-Disease stuff we've been working on.

The source data comes from mim2gene.txt, but it doesn't have HGNC IDs there. It has symbols, which get looked up on a known map to get the IDs. But I think the face checking is good enough. Still I'm in the spot of "looks like OMIM made a lot of updates recently" without knowing much else.

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Synonym sync files added as expected.

-_- Glad to see I'm the only one that is occasionally getting:

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Have you created/updated any aliases for any commands that is deleting this file?

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I haven't touched the makefile goals for this for some weeks I think.

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LGTM

@twhetzel twhetzel closed this Nov 26, 2024
@joeflack4 joeflack4 deleted the databuild693 branch November 27, 2024 01:38
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3 participants