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Very minor (!). Rename `gene_name` to `gene` in the `variants.csv` so is consistent with the other tables.
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Answers the questions:
- Which genes in the region have known eQTLs?
- Which variants in the region are eQTLs?
- What is the total number of eQTLs in the region?
- What is the total number of eQTL…
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Assignment instructions:
- [x] Align the reads to hg19 build 37 genome
- [x] Generate quality statistics from the fastq or bam file using your tool of choice.
- [x] Call variants for the regions in…
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Hello,
The genetic medicine service from the HUG recently reported a patient with a mutation in the gene NOVA2.
Please consider adding the gene to the database and creating a new entity based o…
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This is a new iteration of the data, making #3567 obsolete:
```
❯ gsutil ls gs://ot_orchestration/releases/24.10_freeze2/
gs://ot_orchestration/releases/24.10_freeze2/locus_to_gene_gold_standard.json…
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We have discussed the possibility to implement a PheWas plot from credible sets.
This ticket will incorporate scoping of such visualisation, also taking into account the existing datasets and how we …
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When listing genes included in structural variants what is the order the genes are listed? would it be possible to keep the genomic order instead? this will be much more useful specifically to be able…
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We should document variants in certain genes that shouldn't be set to reference (if missing, as opposed to actually reference):
* CYP3A5
* CYP2C19
* UGT1A1
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## Describe the issue
Some BND variants are missing vep annotations, while the rest have them.
## Additional information
### System
- VEP version: 113
- VEP Cache version: 113
### Full VEP…
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Hello, I'm having issues to update the main header in the html table when I pass custom info-columns information:
create_report test.bed --genome hg38 --fasta hg38.fasta --info-columns CHROM START …