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Describe the bug
Hello, I'm attempting to validate the following deletion: chr10(GRCh38):g.125976998_133427130del. I receive this error upon submission:
"Submitted variant description cannot be val…
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Is there any way that open-cravat is able to provide the IDs from
http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/landing
such as
CA123770
shown at
http://reg.clinical…
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PyHGVS relies on cds_start/cds_stop being the same for a transcript to be regarded as non-coding
But looks like we have cds_start/cds_end being the same as start/end
```
from pyhgvs.utils impor…
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The snapshot is producing a Text variation but the GRCh37/38 information is available as "candidate_expressions".
It's clear that the variation is of two different timeframes (2019-07-01 for the sna…
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A lot of time in `mehari` is consumed in the `translate_cds` implementation.
We should properly tune and benchmark this function in `hgvs-rs`.
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Hi all,
I'm getting an error with intervaltree while uploading the research SV VCF.
My pipeline is essentially to merge together multiple small cohorts of manta SV calls into one larger cohort usi…
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How come parsing a variant in HGVS notation with an ENSEMBL Identifier (EBI) does not work when the HGVS notation explicitly states that they can be used as a reference sequence in HGVS?
> "refere…
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## Description
We found similar differences as described [here](https://github.com/Ensembl/ensembl-vep/issues/1031) - now in `Consequence` field.
### System
- VEP version: 104.3
- VEP Cache vers…
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Dear Ensembl team:
I came across with an issue during the analysis of my otput. I would like to prioritize variants in MANE PLUS CLINICAL transcrips when available, in front of MANE isoforms. I have …