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

--refcall POSITIONAL reports * instead of . in ALT column for reference call creating triallelic calls downstream #257

Open
Kelzor opened this issue Apr 20, 2023 · 0 comments

Comments

@Kelzor
Copy link

Kelzor commented Apr 20, 2023

Describe the bug

When I merge vcfs generated using --refcall POSITIONAL and -P 2, I get triallelic genotype calls (2|0, 0|2) in the resulting merged vcf file that are not present in the individual vcf files. I think is has to do with how bcftools treats "*" in the ALT column. Is there a simple way to change the * to . so that bcftools identifies the ALT as a reference call and not an alternative allele?

For example, in the single .vcf, this is the result:

MTB_anc 1143 . G A
1|0:96:21:37:1104:100:15,6:0.714,0.286:0.214,0.214:0.363:41,32:21:PASS

In the merged .vcf, this is the result for the same sample (first) and the other two that have been merged, which are both homozygous reference:

MTB_anc 1143 . G *,A
2|0:96:21:37:15,.,6:0.714,.,0.286:0.214,.,0.214:0.363:41,.,32:21:PASS:1104:100
0|0:177:59:37:59,.,.:1,.,.:0,.,.:.:41,.,.:59:PASS:.:.
0|0:75:25:37:25,.,.:1,.,.:0,.,.:.:41,.,.:25:PASS:.:.

Attached is a screenshot of the same three samples in IGV for that position. You can see the calls should be 0|1, 0|0, 0|0

This will become a problem for me at sites that are actually triallelic. Thank you!

Version

$ octopus --version
octopus version 0.7.4
Target: x86_64 Linux 5.10.25-linuxkit
SIMD extension: AVX2
Compiler: GNU 11.1.0
Boost: 1_76

Command
Command line to install octopus:

$ singularity build octopus.sif docker://dancooke/octopus

Command line to run octopus:

$ singularity run -B /data/stonelab:/data/stonelab /home/keblevin/octopus.sif \
--reference /data/stonelab/references/MTB_ancestor/MTB_ancestor.fasta \
-I /data/stonelab/Kelly_TB/BAMS_BAMS_BAMS/Vagene_et_al_bams/Colombia_1321_4402.bam \
-P 2 \
--refcall POSITIONAL \
--annotations \
--threads \
--output "19-4-23-Col1321-refcall-2P-annotations.vcf"

Screenshot 2023-04-20 at 12 36 50

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