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Hi!
I noticed that in our case 23289, the 3'UTR polymorphism c.*442_445delTAAA is visible in Scout, but not shown on the front page, although we have the variant saved as a managed variant. This is q…
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Tagging required in both GCI and VCI... parallel implementation.
Tag use cases:
1. Alerts (e.g. new publication, new ClinVar entry, time for re-evaluation, etc) Auto-tags added by VCI
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I call the v1.3.0 Docker image and get a crash with the message below. What could be the reason?
```
VCF file processing...
Writing variants to the output file!
No pathogenic frameshift varinat …
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Dear Nirvana team,
I'm sorry to mis-use the issue tracker for a feature request. I was not sure on how to best approach you.
Thanks for the detailed information on how you compile the ClinVar en…
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Hi Brentp,
I have another question regarding the CompHet tagging. Basically, what you have done in the script has no problem. But in our lab (we are clinical diagnostic lab), we have a bit more r…
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New term request Lens thick (elthat_130401043445):
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Get used to the different databases, locate them and view them as a whole.
Databases:
- Databases of ClinVar: Gene_symbol, NCBI_variation_ID, ClinVar_Preferred, Submitter,Rank_diff, Conflict_Re…
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We need to do a better job of differentiating between genes whose variants are causally related to disease and other genes, for instance those whose differential expression has been observed in diseas…
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Hi,
I'm querying the API as instructed in the tutorial notebook.
```
httpClient = client.HttpClient("https://brcaexchange.org/backend/data/ga4gh/v0.6.0a7/")
query = httpClient.search_varian…