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I am a new user and meet some problem when I tried to analyze my vcf file. The exomiser can't recognize the allele.
The ERROR:
`2022-01-18 16:54:07.965 ERROR 24185 --- [ main] o.s.boot.Spr…
Tttgb updated
2 years ago
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A user from China reached out and mentioned they cannot access https://monarchinitiative.org but can access https://beta.monarchinitiative.org/. We're running production from netlify and beta from ou…
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Hi,
Have you ever released pre-computed similarity matrices from the [phenotype analyzer](https://monarchinitiative.org/analyze/phenotypes) when the profiles are seeded based on genes or diseases?…
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Thanks so much for maintaining this API. I've been running queries with /sim/search and I keep getting 504 Gateway Timeouts when I change the limit setting. I also occasionally get 500 errors. See bel…
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We have now various pipelines that produce an omim.owl, and I was wondering how to consolidate.
1) [dipper](https://github.com/monarch-initiative/dipper/blob/ec6c3c383c36eeff78beea76342d3135be5c90e…
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When BTE receives a query with multiple IDs on the same query-node AND those IDs actually resolve to the same entity....BTE seems to act as if it has "multiple identical starting nodes" when it genera…
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Our scigraph data graph has two iri patterns for OMIM identifiers,
Purl version:
https://scigraph-data-dev.monarchinitiative.org/scigraph/graph/neighbors.png?id=OBO%3AOMIM_105830&depth=1&blankNode…
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I will add a table to the Mondo website with the source data.
Nico offered to automatically derive this from metadata, but needs some clarification. I'll put up a manually curated table on the webs…
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Dear team,
below is my command for running exomiser
java -Xms4g -Xmx8g -Djava.io.tmpdir=/gpfs/projects/HPO//tmp -jar /gpfs/software/genomics/Exomiser/12.1.0/exomiser-cli-12.1.0/exomiser-cli-12.1.0…
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SRI, in collaboration with other Translator teams, is working to provide standard, computable IRIs and representations of Information Resources that provide knowledge to and within the Translator syst…