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In our weekly dipper calls I have been agitating for a landing page for the vast number of unresolvable IRI we generate. (Where vast is defined as > 10,000,000 RDF statements)
So far we haven't come u…
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### Background
Following Variation Set discussions at the Boston Plenary, it was decided that VR will only provide a model for **static** Variation Sets - as simple objects holding just an enumerated…
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Configuration file: db_main.toml
Description: miRDB is an online database for miRNA target prediction and functional annotations.
```toml
[db_mirdb]
source_url = "http://mirdb.org/download/miRDB…
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**Describe the bug**
NM_020451.2:c.827_829dup > NP_065184.2:p.(Val275_Ala276=)
**Expected behavior**
To be confirmed
This is a weird one. Mutalyzer shows 2 alternate descriptions. I have added…
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We will initially proceed with our initial decision to split 'Predicted' (#21) from 'Experimental' (#34) Functional impact annotations - and model these as separate VA types. Our rationale was that:…
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http://localhost:8080/api/match/jaccard?id=HP:0007280
```
ontologyUris:
- http://purl.obolibrary.org/obo/hp.owl
ontologyDataUris: []
dataTsvs:
- ./Hs_disease_phenotype.txt
curies:
# …
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Is there a way to load a non-model organism as the reference genome?
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In some cases, a single rsID (which indicates a genomic position) maps to multiple "variants" (3+ alleles at a single site)
In these cases, default behavior should be to go to the SPDI with the highe…
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**Is your feature request related to a problem? Please describe.**
VariantValidator, when having received too much work for one request, times out. This happens when, e.g.,
1. A large variant is sub…