Warn when variant ref doesn't match our reference fasta
- Dominant language
- Python
- Stars
- 30
- Forks
- 3
- Avg merge
- 9h 22m
- Merged PRs (30d)
- 40
Description
A CCB researcher emailed about how 17:7574012 G>A has HGVS of ENST00000269305.4:c.1015G>T
As it's -'ve strand you'd think given the ref G would be complement C ie HGVS should be ENST00000269305.4:c.1015C>T
It looks like VEP calculates HGVS using the fasta reference base, this kind of makes sense (due to normalization and annotations etc) but I have raised an issue with them to make it more explicit in their documentation: https://github.com/Ensembl/ensembl-vep/issues/865
In the mean time, I think we should definitely add a warning about the reference base being different than our Fasta and what that means. We could initially use PyHGVS and long term modify our annotation to add a CHECK_REF option which we can display a warning about on the variant details page:
https://asia.ensembl.org/info/docs/tools/vep/script/vep_options.html#dont_skip
Combining --check_ref with --dont_skip will add a CHECK_REF output field when the given reference does not match the underlying reference sequence.
Contributor guide
No contributing guide indexed for this repository
Assessment
This issue has not been assessed yet.