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Raised from SACGF/variantgrid_private#3634
If you search for ```BMD:c.10889G>A```
It returns some results. However, we also swallow the errors, eg:
```Error resolving transcripts: ENST00000378043.9…
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Hi, this project looks good! Thanks!
I would like to use Tark as a source of transcripts for [Biocommons HGVS Python library](https://github.com/biocommons/hgvs)
RefSeq transcripts can differ fr…
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Found while investigating SACGF/variantgrid_com#82
The SV pipeline does its own HGVS as VEP doesn't support symbolic variants
However it seems to run really slow. It errors with:
```
HGVSConverterT…
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_From @wshayes on November 9, 2017 16:4_
Evaluate tooling for HGVS string validation:
* https://variantvalidator.org/
* https://mutalyzer.nl/
* https://github.com/counsyl/hgvs
* https://github.com/b…
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NOTE: Private discussion using data here: https://github.com/SACGF/variantgrid_private/issues/3492
We clean HGVS while searching to remove common errors.
In classification imports, we have a ver…
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> We're specifically hoping to sort by the consequence on the amino acid chain (e.g. p.Trp417Ter is a nonsense variant, c.1225-1G>T is a splicing variant, and p.Lys464SerfsTer24 is a frameshift varian…
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Hello,
It should be useful to be able to right-click on a variant in the IGV viewer and have an option to generate HGVS compliant nomenclature for a variant.
Thank you,
Dmitriy
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- depending on an additional microservice or existing API to convert HGVS to `g` notation
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First: Thank you. Making data easily available is a great service to the community!
# Issue
MyVariant.info accepts invalid (MyVariant.info-specific) HGVS and does not accept valid HGVS. Since HG…
reece updated
3 years ago