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I got the following error when running vcf-expression-annotator
`/home/bobojin/software/miniconda3/envs/vatools/lib/python3.8/site-packages/vcfpy/header.py:413: FieldInfoNotFound: INFO "CONTQ not …
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With the impending switch over to the new DGIdb frontend, the existing link to the DGIdb entry for a given gene will break. Now, gene records are identified in a URL by their normalized concept ID, no…
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In https://github.com/biothings/mygene.info/blob/master/src/hub/dataload/sources/clingen/parser.py#L65 of the current clingen parser, we specify five columns to parse out of the downloaded clingen fil…
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As a bioinformatics manager I want to have a safe and efficient repository of genetic test and panel information for use in the laboratory so that I can access it quickly and reliably
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> library(hgnc)
> last_update()
[1] "2023-10-30 03:31:41 UTC"
> use_hgnc_file(file = latest_archive_url())
Error in use_hgnc_file(file = latest_archive_url()) :
could not find function "use_hg…
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A collaborator for the [CMG_Muntoni_External_Genome](https://seqr.broadinstitute.org/project/R0536_cmg_muntoni_external_gen/project_page) project discovered that no variants are returned when `TF bind…
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When running the test data file through the workflow, the parse step is outputting a clinical_assertion record with null values (other than those added explicitly, like `entity_type` and `release_date…
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It looks like something is up with the join to populate mappings and we're creating these weird mappings when an ID doesn't exist:
example:
```
HGNC:45103 skos:exactMatch OMIM: semapv:Unspecifie…
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I'd like to request a term for neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities.
OMIM: https://omim.org/entry/620489
Potential definition: Neurodevelopmental disor…