-
http://phenotyper.monarchinitiative.org/
For giving demos unprepared, it would be useful if there was a link to an (open access) PDF that is a good exemplar for phenotyper functionality
-
Example:
https://monarchinitiative.org/disease/MONDO:0012726
_characterised_ by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities respo…
-
see bad assumption here:
https://github.com/monarch-initiative/kboom/blob/master/boom-core/src/main/java/org/monarchinitiative/boom/io/CliqueSolutionDotWriter.java#L229-L231
-
For this query
http://localhost:8888/api/bioentity/gene/HGNC:11593/homologs/?homology_type=O&fetch_objects=false
The JSON returned is this and clearly the taxon for zfin is missing :
{'id': '11d…
-
For example, colour blindness: https://api.monarchinitiative.org/api/search/entity/Colour%20blindness?prefix=HP
-
The following text causes a crash:
d an 11-year-old girl (patient 2) who had onset of intractable seizures at 6 weeks of age. Seizure types included clustered focal seizures, infantile spasms, toni…
-
This URL returns "Failed to find class with ID: WB:WBGene00020993", which the JSON parser then barfs on:
https://scigraph-data-dev.monarchinitiative.org/scigraph/graph/neighbors/WB:WBGene00020993.js…
-
This section of the documentation links to the Ontology Lookup Service (OLS):
https://obophenotype.github.io/upheno/reference/core-concepts/
The link behind the text "[Unified Phenotype On…
-
the anx allele (http://www.informatics.jax.org/allele/MGI:1856657) is a locus for which the actual genetic variant is not known. When you go from
https://beta.monarchinitiative.org/variant/MGI:18566…
-
Hello,
I tried to run the tool on the test vcf -
```java -jar squirls-cli.jar annotate-vcf -d resources example.vcf test_out.vcf```
I get the following error -
```
12:55:30.491 [main] IN…