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Create a complete UMLS-OMIM SSSOM mapping file #46

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matentzn opened this issue Apr 11, 2022 · 4 comments · Fixed by #48
Closed

Create a complete UMLS-OMIM SSSOM mapping file #46

matentzn opened this issue Apr 11, 2022 · 4 comments · Fixed by #48
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@joeflack4

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@matentzn
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Covering all diseases in OMIM.

See #44, should be attached to release.
@joeflack4
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This sounds like it should be easy to do with what I have available.

For my input, I'd use the latest omim.ttl from our OMIM ingest.

That file already has mappings to UMLS in the form of:
oboInOwl:hasDbXref UMLS:<code>

For the UMLS prefix, the one we've been using and which I'll continue to use will be:
http://linkedlifedata.com/resource/umls/id/

If any of this sounds incorrect, just let me know.

@matentzn
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@joeflack4
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Got it!

@joeflack4 joeflack4 linked a pull request Apr 12, 2022 that will close this issue
HGNC-related updates & skos:exactMatch -> oboInOwl:hasExactSynonym #48
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Results in latest release. I think I still need to split the file, though: https://github.com/monarch-initiative/omim/releases/tag/latest

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HGNC-related updates & skos:exactMatch -> oboInOwl:hasExactSynonym monarch-initiative/omim
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@matentzn @joeflack4