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The HGVS Nomenclature logo was borrowed by me from the [biocommons hgvs package](https://github.com/biocommons/hgvs/). (I drew the logo.)
While I'm not bothered by this circumstance, it may have th…
reece updated
3 weeks ago
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In some scenarios, it is useful to be able not 3' shift the hgvs notations. So, it would great to be able to untoggle **shift_hgvs**.
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Some HGVS errors are due to user input, some are due to implementation issues
For implementation details, that the user can do nothing about, we should just give a simplified error like "Cannot resol…
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The data table preview currently shows all three possible hgvs columns (hgvs_nt, hgvs_splice, hgvs_pro) even when only one is used by the dataset.
It makes sense to provide all of these columns in …
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## Describe the issue
Hello, I'm testing v113 using the v113 docker obtained from docker hub and the v113 cache downloaded using the following command:
`docker run --network host -t -i -v /mnt/data1…
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In clinvar there's a variant NM_006087.3:c.900C>A (267781) that has no hgvs or spdi or location data. When I used the metakb variant normalizer service translate_from which uses the vrs-python transla…
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**Is your feature request related to a problem? Please describe.**
Some variant calls might be incorrect or need to be adjusted to take multinucleotide variants into account. Currently the user might…
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See https://github.com/CountESS-Project/CountESS/issues/32 and 0b464fbe2ae6b5289331cdad5f3edf9fbd4c0cd2 but there's still issues about different possible ways of representing the change in HGVS.
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When converting c. HGVS from cDNA to genome coordinates, VEP appears to not take into account alignment gaps, where the cDNA has insertions/deletions vs the reference sequence.
Submission example:
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