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We're missing the GO annotations for EPM2A, see https://monarchinitiative.org/gene/HGNC:3413 vs.
http://amigo.geneontology.org/amigo/gene_product/UniProtKB:B3EWF7
cc @realmarcin
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There was a blog post from MONARCH detailing how to parse the MONDO data to get "rare" disease classification
https://mondo.monarchinitiative.org/pages/analysis/
Jim Balhoff rewrote this blog post…
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Now that we have a multi-entity association query on the backend, we need to expose it via the api-v3.monarchinitiative.org API :D Ref https://github.com/monarch-initiative/monarch-app/issues/270
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Currently, the installation with maven fails, since it has a dependency of ``phenol`` with version ``1.5.1-SNAPSHOT``.
That is however not available in at [https://repo.maven.apache.org/maven2/org/…
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During today's Technical team meeting, it was identified that we need to rethink and revise the **Resources** and **About** page on monarchinitiative.org. The current layout does not make intuitive se…
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for example see https://monarchinitiative.org/phenotype/HP:0000023
this is likely not a dipper bug but triaging here until we can investigate further
credit to @iimpulse for finding this
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Compare:
https://monarchinitiative.org/disease/ORPHA:443909
To:
https://monarchinitiative.org/disease/MONDO:0018630
Mondo is the reference identifier for diseases in monarch and when linking u…
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Based off of #124
* Establish a consistent way to count phenotype for MP and ZP
* Produce Exomizer similarity artifact for:
* HP v HP
* HP v MP
* HP v ZP
* Include some provenance and rep…
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Compare
- http://www.informatics.jax.org/allele/MGI:3894845
- http://beta.monarchinitiative.org/gene/MGI:3894845
- requires linked xref to MGI
- type "gene trapped allele"
- etc
May require loa…
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There is a recent commit with commit message "New official release: 2.4", but there are no releases:
https://github.com/lgmgeo/AnnotSV/releases
Could you please hit the "Draft a new release" button …