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The 10 subjects with Geleophysic dysplasia 2 are exact phenotypic duplicates - they contain exactly the same HPO terms.
Despite being different in the primary data (per Peter's Slack message), the …
ielis updated
11 months ago
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I'd like to request a term for Harel-Yoon syndrome. This disease is associated w/a gene ATAD3A (https://omim.org/entry/612316) that is also associated with pontocerebellar hypoplasia, hypotonia, and r…
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### Context
Currently we store the first instance that appears in the TSV, e.g., for `nb:Diagnosis`
One example where this is bad:
The QPN TSV contains two columns about diagnosis, one of which…
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Is there a way we could move all the CSV logic into `top-backend` and `abstract` it? Right now I'm duplicating most of the code from `top-phenotypic-query` in `top-document-query`, because I want to …
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Hi!
I'm wondering if you any idea why running time on my cluster is suddenly significant longer?
My run from September 28th
```
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SBayesRC v0.2.0
Dev…
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EFO:0004213
ICD10CM:H80.80
ICD9CM:387.8
OMIM:166800 otosclerosis 1
OMIM:605727 otosclerosis 2
OMIM:608244 otosclerosis 3
OMIM:608484 CONGENITAL CORNEAL OPACITIES, CO…
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Hi! I see I could model different underlying distributions of QTLs, but is it possible to model the trat that has gamma or beta (anything besides normal) distribution? Thank you.
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Curated by @MPiovesana
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Spasmodic dystonia
Obsolete in Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93961
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.
In…
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https://mp.weixin.qq.com/s/Rj8PL6wJqwWhsmLG8tx89w
ixxmu updated
2 months ago