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I tried running the test genomiser analysis using:
java -Xms4g -Xmx8g -jar exomiser-cli-11.0.0.jar --analysis test-analysis-genome.yml
I get the error:
A Tool to Annotate and Prioritize Exo…
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https://beta.monarchinitiative.org/disease/MONDO:0008458
two of the parents are OMIMPS…
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How to reproduce
* go to http://beta.monarchinitiative.org/
* enter "neurogenesis" and hit return
* click first link for first result "neurogenesis phenotype"
* now on page: http://beta.monarchi…
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See https://github.com/monarch-initiative/mondo/issues/760
However, the xref issues in this ticket don't fully explain:
https://beta.monarchinitiative.org/disease/OMIM:130010#gene
Here we see…
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Hi,
I want to build the phenotype database following your "Phenotype DB build" pipeline. I compiled the source files to generate exomiser-data-phenotype-12.0.1.jar. But it didn't work. And what I nee…
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nlp/annotate doesn't seem to connect properly to backend [example](https://api.monarchinitiative.org/api/nlp/annotate/Searching%20for%20prospective%20vanadium-based%20agents%20against%20Trypanosoma%20…
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**Mondo term (ID and Label)**
##MONDO: 0011794 Dravet syndrome
**Suggested revision and reasons**
This term should be moved out from early infantile epileptic encephalopathy (MONDO:0016021) becau…
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https://beta.monarchinitiative.org/variant/ClinVarVariant:12644
For instance, the 56 phenotypes shown here relate to the DISEASE and not to this particular variant.
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https://beta.monarchinitiative.org/disease/MONDO:0008458
Can we assume that users will immediately grok that this disease is caused by repeat expansions?
i.e., NP_002964.3:p.Gln166(>=33)
Mayb…
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Hi there,
I am interested in using the HPO workbench, but when I tried to download the jar, I got the following error message:
```
bash$ java -jar ~/Downloads/HpoWorkbench.jar
Error: Could no…