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# Request
Add to the UBKG the summary for each gene in HGNC shown in the mockup below.
Summary information is maintained by RefSeq.
RefSeq information is available via FTP download of sourc…
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https://mp.weixin.qq.com/s/pD3dKVYbDJjv4_W0Xtzy8w
ixxmu updated
5 months ago
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I'd like to request a term for developmental delay, dysmorphic facies, and brain anomalies.
OMIM: https://www.omim.org/entry/620535
Potential definition: Developmental delay, dysmorphic facies, …
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dnil updated
8 months ago
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I'd like to request a term for Nicolaides-Baraitser syndrome.
OMIM: https://omim.org/entry/601358. The gene is also associated with blepharophimosis-impaired intellectual development syndrome (htt…
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I'd like to request a term for microcephaly, short stature, and limb abnormalities.
OMIM: https://omim.org/entry/617604. DONSON is also associated with a more severe phenotype, https://www.omim.org…
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Example:
`ontogpt extract --model gpt-4 -t gocam -i AT2_pulmonary_surfactant_response.txt -o AT2_pulmonary_surf_gocam.owl -O owl`
Fails with:
```
lot_usage for undefined slot: id
File "", l…
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Hi,
I followed your guide and I successfully preprocessed my eventalign files of my two conditions.
I have one repeat per condition.
Then I run the command
xpore diffmod --config $CONFIGFILE/my_c…
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We should populate `name` and `symbol` with the gene's symbol, and populate `full_name` with the long form of the gene name
I think this will also mean adding full_name to the monarch-py node schem…