-
I am encountering an issue where deepmosaic-draw is not recognizing a valid input file. The command I am running is as follows:
singularity exec -B variant_calling/software/annovar/annovar:/mnt/ann…
-
Include some examples:
- Fetch variant data
- Fetch gene data
- Selecting dataset
-
**Is your feature request related to a problem? Please describe.**
Seqr displays gnomad SV allele frequency, but given the small SV dataset it is hard to interpret allele count.
**Describe the so…
-
Hi, would it be possible to integrate the mtDNA gnomAD scores into the next annotation package release - they seem to be provided separately from the main genome (https://gnomad.broadinstitute.org/dow…
-
We plan to update gnomAD to v4, when available, and several updates will be needed.
Master list of tickets (in order of priority)
- [ ] #344
- [ ] #345
* includes updating the group table…
-
Running against the gnomAD v4.0.0 (converted with CRISPRme) fails in the Integrating Results phase.
Error message
Traceback (most recent call last):
File "/opt/conda/opt/crisprme/PostProcess…
-
I have an issue with successfully running the genebe commandline tool.
**input command:**
`genebe annotate --input 24072-01-01_split.vcf --output 24072-01-01_split_genebe.vcf --progress`
**erro…
-
Hi,
I'm trying to annotate a VCF with only 248 variants using the gnomad genomes VCF as annotation and it takes about 2 hours to run. Both the input VCF and the annotation VCF are indexed with tab…
-
Helpful to have in:
https://github.com/NCATS-Tangerine/cq-notebooks/tree/master/Orange_QB1_Benchmark_CQs/QB1.2_FA_Gene_Pathogenic_Variants
@TomConlin and @mbrush
-
## Describe the issue
We continue digging into differences (https://github.com/Ensembl/ensembl-vep/issues/1031) caused by `--no_stats` workaround from https://github.com/Ensembl/ensembl-vep/issues/81…