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

Uniq does not take into account SVLEN (Symbolic variants) #123

Open
davmlaw opened this issue May 9, 2024 · 0 comments
Open

Uniq does not take into account SVLEN (Symbolic variants) #123

davmlaw opened this issue May 9, 2024 · 0 comments

Comments

@davmlaw
Copy link

davmlaw commented May 9, 2024

If you have symbolic variants with the same chrom/pos/ref/alt but different SVLEN, they are treated as identical, meaning you silently drop symbolic variants

Example VCF:

##fileformat=VCFv4.1
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
NC_000012.11	88520131	23651	C	<DEL>	.	.	SVLEN=-1000;SVTYPE=DEL
NC_000012.11	88520131	24042	C	<DEL>	.	.	SVLEN=-2000;SVTYPE=DEL
NC_000012.11	88520131	24043	C	<DEL>	.	.	SVLEN=-3000;SVTYPE=DEL

These are different variants (1k, 2k, 3k deletions) and are not unique.

Ideally, vt would take into account SVLEN

At the least - if you see a symbolic alt, you should perhaps write a warning to STDERR saying that symbolic variants are not treated correctly, and will be removed

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

No branches or pull requests

1 participant