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

Ref base always 'N', despite providing --reference FASTA #531

Open
bbimber opened this issue Nov 20, 2024 · 0 comments
Open

Ref base always 'N', despite providing --reference FASTA #531

bbimber opened this issue Nov 20, 2024 · 0 comments

Comments

@bbimber
Copy link
Contributor

bbimber commented Nov 20, 2024

Hello,

With sniffles 2.5 I am trying to perform a fairly simple genotype/merge with PacBio input CRAM files (from pbmm2). Despite providing "--reference" to sniffles, the resulting VCF has 'N' for all the REF alleles. To verify this is not CRAM-speciifc, I also converted CRAMs to BAMs and repeated, with the same result.

here is the first command (once per input):

$SNIFFLES \
	--input $BAM \
	--snf $SNF \
	--allow-overwrite \
	--threads 12 \
	--no-progress \
	--reference $MMUL10

and the merge:

$SNIFFLES \
	--no-progress \
	--input fileList.tsv \
	--allow-overwrite \
	-t 12 \
	--no-sort \
	--combine-pctseq 0 \
	--reference $MMUL10 \
	--vcf $VCF

The resulting VCF lists 'N' as the REF for every row. It seems like the bcftools fill-from-fasta plugin can salvage the REF field:

bcftools sort $VCF | bcftools +fill-from-fasta $VCF -- -f $MMUL10 -c REF | bgzip > ${VCF}.gz

but thought it was worth reporting this.

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