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Via this API
https://www.genenames.org/help/rest/
we can get mane transcripts
For instance, here we can see the MANE select for FBN1
https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/…
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In this issue, I detail the work done to pre-process the data in both datasets:
- the clinical dataset: with information about the subject and the dose received
- the radiomics dataset: with csv fil…
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Dear René,
I have encounted an error when trying to install your software via docker and also into the virtualbox image provided. It seems that the problem is stemming from the web client install a…
mr33d updated
10 hours ago
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Create a checkbox when checked only generates one structure.
Requirements
When checkbox is unchecked, the code runs as currently developed.
Tooltip on the ComboBox that recommends research mode for …
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We need to ensure that the new ClinGen ClinVar ingest is producing the same volume of data as the current DSP ClinVar ingest. This should be done by verifying the record counts in the the BQ tables:
…
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- [x] Make the report in the pre-release.
- [x] The Clinically High Risk Pregnant Women Report is a new report to be added for the client in superset. It is being used to track the number of high risk…
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Clinical Errors / Schema Validation Errors should be updated to include an identifying value (for example `primary_diagnosis_id`) or other detailed information related to the specific record with the …
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Hi,
Is there a way to include variants in RNA genes without getting all non-coding variants in regular protein-coding genes (or intronic variants in protein-coding genes that are also ncRNA variant…
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## Support ticket
- https://avni.freshdesk.com/a/tickets/2989
## Context
This change will be picked once the Phase 2 changes are picked up
## Reports to be updated
- [ ] [[APFODISHA] QRT-PW Report…