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**Is your feature request related to a problem? Please describe.**
For large projects, the Clinvar Export AJAX API spends a lot of time looking for annotated variants. This lead to problems like …
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**Is your feature request related to a problem? Please describe.**
Currently SV details page has only information about genes and GenBrowser. However, it's possible to present ClinVar and Genotyp…
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I have a annotated VCF I split using bcftools split-vep
the cDNA, CDS en protein positions in the CSQ are:
`|8586-8599/9231|8523-8536/8835|2841-2846/2944 |`
The split vep output for those field…
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Larry and Danielle to document the steps so users can interact and refresh the sheets
- [ ] Keep sheet in accessible Google drive https://drive.google.com/drive/folders/10vEGdTMJ5IxajPVwMV2jfRMFJad…
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I'd like to request a term for developmental delay, dysmorphic facies, and brain anomalies.
OMIM: https://www.omim.org/entry/620535
Potential definition: Developmental delay, dysmorphic facies, …
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## Describe the issue
Incorrect HGVSp description for a frameshift duplication:
- VCF description: 2 1477447 . A ACGGC
- HGVSc: NM_001206744.2:c.1184_1187dup
VEP is giving me an HGVSp of `NP_00…
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I'd like to request a term for microcephaly, short stature, and limb abnormalities.
OMIM: https://omim.org/entry/617604. DONSON is also associated with a more severe phenotype, https://www.omim.org…
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### Ask away!
Hello,
I'm confused by what appears to be a number of files missing from in my final output.
Here is my command:
```
nextflow run epi2me-labs/wf-human-variation -w data/wf-h…
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This ticket summarises the prioritised tasks from the first round of [UX testing ](https://docs.google.com/document/d/1nEJTwEy_Uo24ZBftZ3Zp17E78OlO4uKEUxpKxCwLByo/edit#heading=h.xa04c8sxq0ic)for the A…
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Ticket on [Jira](https://broadworkbench.atlassian.net/browse/DI-304)