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**What topic do you wish to add?**
Teach what are the necessary expertise on a FAIRification team. What needs to be "local" what can be "out-sourced". Roles, etc.
**Are there existing lesson plan…
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- The focus of the major datasets in EGA
- How to gain access to this dataset
- Clean up all the metadata and do a retrofit of ontology terms on it
- Bringing dataflow into secure data arc…
S2Ola updated
4 years ago
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Orphanet provides gene-disease associations for rare diseases under at CC-BY 4.0 license.
See link for "Genes associated with rare diseases" in http://www.orphadata.org/cgi-bin/index.php. Current…
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@cmungall summarized the MONDO strategy re obsoletion of 'rare' terms:
"We obsoleted the ones for which there was a clear replacement, Rare X --> X, i.e. where we trivially shadow an existing class wi…
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This isn't a code based question. In the homework it states:
Extract the AF_EXAC data to determine the rarity of the variant
If the disease is rare:
return an a list of associated diseases
I…
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OMIM includes some common diseases and MONDO's import of these entries needs to be reviewed.
From the curation call notes on 19 May 22:
If OMIM has a locus for a common disease, it should be a di…
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The use case described in #57 will be used to identify requirements on the interfaces between the VP[^1] and the connected resources, on the data objects that are communicated, and the services that p…
mroos updated
4 months ago
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Hello GEL2MDT team,
We're just starting to use GEL2MDT in Oxford Rare Diseases - I'm the Rare Disease Project manager. We'd find having the HPO terms displayed in the proband view helpful so that …
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- [ ] primary orthostatic hypotension (MONDO_0015914)
- should be a child of autonomic nervous system based on definition, needs a ticket in Mondo
- [x] central cord syndrome (EFO_1001772)
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I am wondering if we should also allow annotations for thins like Sleep apnea -- this is a symptom of many rare diseases, and probably the treatment is not different for the individual diseases.
So,…