Biocommons - variant over alignment gap
Open
- Dominant language
- Python
- Stars
- 30
- Forks
- 3
- Avg merge
- 9h 28m
- Merged PRs (30d)
- 42
Description
Raising an issue as this was lost in another issue that has been re-purposed to test Biocommons generally. These variants exist when a variant is over an alignment gap/insertion/etc. See the following examples:
NM_130444.3(COL18A1):c.4078_4086delGGCCCCCCA
NM_015120.4(ALMS1):c.72_77delGGAGGA
NM_015120.4(ALMS1):c.75_77dupGGA
I think the simplest way forward would be to detect and error, similarly to what is done in pyhgvs currently.
This issue has already been raised in biocommons, but we are waiting on a reply - https://github.com/biocommons/hgvs/issues/758
Contributor guide
No contributing guide indexed for this repository
Assessment
This issue has not been assessed yet.