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https://github.com/mapsme/omim/issues/10858
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Lets add details to this ticket at our next meeting.. Thanks for leading the very interesting conversation on this.
- Only SSSOM mappings maintained by OMIM should be released as part of OMIM relea…
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Hello!
We are using version 1.1.0 of OMIM module in our analysis of the WGS data.
There is a problem that a very small percentage of variant in the sqlite file had a link to OMIM database. But du…
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When we update obsolete references in external resources, we should keep track of the following information:
- reasons for deprecation (ie why did the external resource obsolete the term?)
- term t…
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/home/lgb/omim-build-release/generator_tool --threads_count=4 --data_path=/home/lgb/maps_build/2020_05_12__09_43_39/intermediate_data --intermediate_data_path=/home/lgb/maps_build/2020_05_12__09_43_39…
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I'm seeing something similar to what was reported [here](https://github.com/NCATSTranslator/Feedback/issues/767) with some results being reported twice, with different identifiers:
The query is…
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I would like to add 620155, Rabin-Pappas syndrome
but it is not recognized by HCA and it does not let me add the disease.
Either we need to pull the ids from Monarch API or we need to allow "unknown…
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Hi,
The last Mondo release included updated OMIM and Orphanet ingest (see https://github.com/monarch-initiative/mondo/issues/1283). Looking at the list of new classes in https://github.com/monarch-…
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Like this?
```json
{
"id": "http://purl.obolibrary.org/obo/MONDO_0014957",
"meta": {
"mappings": [
{
"pred": "exact",
"val": "UMLS…
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Looking at how we are capturing 'susceptibility' aka genetic risk factors in the DO.
We annotate the OMIM susceptibility terms with 'contributes to condition'
On the DO website, these annotatio…