Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Downstream changes for get_end fix in VCF parser #1773

Open
wants to merge 3 commits into
base: main
Choose a base branch
from

Conversation

nakib103
Copy link
Contributor

@nakib103 nakib103 commented Oct 21, 2024

Depends on Ensembl/ensembl-io#171

Skipping variant:

We were skipping SV deletion type variant if start >= end. The case start = end can be a valid case, for example, when SVLEN=1.
Fixed that check to see if start > end or if there is no SVLEN or END information.

Unit test fix:

AnnotationSource_File_VCF.t

The type is exact and the custom line is as follows -

21	25585735	del2	TG	T	67	SEGDUP;RF

So it deletes the G at 25585736 position. Correct way to represent it in SVLEN is with POS=25585736, REF=T (always use the base before polymorphism happens) and SVELN=1 (the difference between ref and alt sequence).

Parser_VCF.t

The BND are case affected by the ensembl-io change because it does not have any SVLEN and END. The end here we will be now end=start. Before it was getting end=start+ref length-1. END position are not exactly clear for BND but the former ones seems more clear.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

1 participant