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After completing #1493, it's now time to do a bit of outreach to the community and ask all of the different members to add the `obofoundry` topic to their repos. It's pretty simple through the main pa…
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I'm not sure where this info comes from (it doesn't appear to come in with mondo nodes), or how we'll model it in biolink, but currently in the `/bioentity/disease/{id}` call in the biolink-api this i…
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I have
pombe NOP10 annotated to
Dyskeratosis Congenita, Autosomal Recessive 1 MONDO:0009136
This seems to be correct:
https://www.omim.org/entry/606471#molecularGenetics
but the description…
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Hi everyone,
I am trying to run Exomiser (13.0.0) on my VCF files but I keep getting empty output files. If I try the test Pfeiffer.vcf file, I get results from Exomiser. verified the path to data …
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Hello,
Newbie to Exomiser but I managed to follow instructions and made suggested changes to the files prior running. I suspect that my main issue is related to memory use since I can make Exomiser…
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We need to convert the un-dockerized neo4j 3.4 on scigraph.ncats.io to something that's easier to manage.
- [x] Dockerize the Monarch Neo4j (using Compose) - resolved by PR #3967?
- [x] Upgrade t…
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[AnnotSV](https://github.com/lgmgeo/AnnotSV) is a great tool for human structural variation annotation, ranking and analysis. It integrates public datasets, SV ranking and phenotypic data to aid varia…
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Hello.
We are trying to use external reference directories for your tool (we are using Docker for tools and we down want to store 20GB reference in it), tool have support for it - `-annotationsDir`…
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#### What analysis module should be updated and why?
[efo-mondo-mapping](https://github.com/PediatricOpenTargets/OpenPedCan-analysis/tree/dev/analyses/efo-mondo-mapping)
#### What changes ne…
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const url = `${biolink}/graph/edges/from/${id}`;
const response = await request(url, params);
const { nodes, edges } = response;