deepvariant: NoCall with missing PL value
Hi,
I am using Pepper-MARGIN-DeepVariant r0.7 with custom made models for Pepper-SNP, Pepper-HP and DeepVariant. As far as I know, this release uses DeepVariant 1.2.
I have run this pipeline successfully for a small cohort of about 100 genomes but when merging the GVCF files, GLnexus 1.4.1 (with config DeepVariant) complains that at least one variant is missing PL values. I tracked down the issue to one GVCF were the record is:
CHR POS . A G,<*> 9.9 NoCall . GT:GQ:DP:AD:VAF:PL ./.:0:5:0,0,0:0,0:0,0,990,990,990
We can see that this GVCF record has 5 PL values where there should be 6. The corresponding record in the VCF file is:
CHR POS . A G 9.9 refCall . GT:GQ:DP:AD:VAF:C ./.:0:5:0:0:DV
The VCF record indicates that the variant call was issued by DeepVariant.
Any ideas what could be the issue here?
Thank you for your help, Guillaume
About this issue
- Original URL
- State: closed
- Created 2 years ago
- Comments: 15
Hi @GuillaumeHolley , yes! Please email me at pichuan@google.com