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I noticed a bug when running _svart_-graded Squirls benchmark on a VCF file.
When annotating a VCF record:
```
chr1 225725424 . CTT C,CT 258.06 FreqFilter AC=1,1;AF=0.…
ielis updated
3 years ago
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See also: #559, #477
There is already some material about this on the HPO homepage:
https://hpo.jax.org/app/help/collaboration (scroll down to “The distinction between diseases and phenotypes”).
…
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cc @balhoff
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```
a owl:Class ;
rdfs:label "Episodic Kinesigenic Dyskinesia 1" ;
OBO:IAO_0000142 ,
,
,
,
,
,
,
,
,
,
…
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When I visit the site http://monarchinitiative.org using Google Chrome the graphs never load on the browse pages.
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I find the autocomplete for Multicystic kidney dysplasia to be a little confusing. Too many different diseases get shown.
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Dear developers of PhenoteFX,
we find PhenoteFX very exciting and would love to install it. Unfortunately, we get the same error over and over again:
`Error: Could not find or load main class or…
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It is a little unclear why there is a link between this pathway and 8 phenotypes
https://beta.monarchinitiative.org/pathway/REACT:R-HSA-381426#phenotype
If we want to use transitive relations (p…
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I am using
https://data.monarchinitiative.org/experimental/omim.ttl
to seed mondo
I get some triples such as
```
.
```
but I have no rdfs:label triple for https://omim.org/entry/1808…
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Proxy Error
The proxy server received an invalid response from an upstream server.
The proxy server could not handle the request GET /search/smad2.
Reason: Error reading from remote server
Apache/2…