griffithlab / griffithlab/pVACtools
pVACseq should handle frameshift that fall "within the region of the splice site"
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- Dominant language
- Python
- Stars
- 188
- Forks
- 81
- Avg merge
- 9d 17h
- Merged PRs (30d)
- 6
Description
Currently, the VEP Frameshift plugin does not process any variants that have a "splice" as one of the consequences. However, there is one special case that should be processable. If a variant is both a frameshift and a "splice_region_variant" and the variant is contained within the 1-3 bases of the exon, we should be able to treat this as any other frameshift.
To add support for this, we would need to update the Frameshift plugin to process "splice_region_variant" consequences (but still skip all other splice_x consequences). pVACseq would then need to check whether the frameshift variant falls within the 1-3 bases of the exon and only if it does, process it further.
Contributor guide
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First steps
- Read the whole issue, then the project's contributing guide.
- Comment on the issue to say you are picking it up — it saves two people doing the same work.
- Fork the repository and make your change on a branch.
- Open a pull request that references the issue number.
Research direction
Locate the VEP Frameshift plugin and pVACseq frameshift-processing entry points, then read their existing handling of splice consequences. Confirm the special case for variants marked both frameshift and splice_region_variant within 1–3 exon bases, while other splice_x consequences remain skipped. Add or update focused tests covering both the accepted case and excluded cases.
Written by the indexing model from the issue text.
Assessment
- Tech stack
- python
- Domain
- bioinformatics
- Issue type
- Feature
- Difficulty
- 4/5
- Estimated time
- 3-5 days
- Activity status
- Active
- Clarity
- Mostly clear
- Newbie friendliness
- 55/100