Skip to content

Lower than expected GQ values, with bimodal distribution #586

@JakeHagen

Description

@JakeHagen

Describe the issue:
On a specific batch of samples, GQs and QUALs seem to be abnormal.
The GQ and QUAL distributions are bimodal and for variants they are much lower than I would expect. It doesn't seem like there is anything wrong with the calls themselves; I get an expected number of variants. I also can not find anything wrong with the input data. It has high base quality throughout the reads, they are 100bp paired end reads from a NovaSeq with the four value binned base quality scores. This is the visual report for one sample.

image

Here is an example. I would expect this variant to have a much higher GQ and QUAL. I also have attached deepvariant's channels png for this variant.

chr1    169421916       .       A       G       18.4    PASS    .       GT:GQ:DP:AD:VAF:PL      0/1:17:58:29,29:0.5:18,0,22

chr1_169421916_A-G

Is this expected or is something strange happening here, any insight you can provide would be very appreciated.
Thank you

Setup

  • Operating system: Ubuntu 20.04
  • DeepVariant version: 1.4 (but also 1.2)
  • Installation method (Docker, built from source, etc.): Singularity
  • Type of data: (sequencing instrument, reference genome, anything special that is unlike the case studies?)
    Novaseq, 100bp paired, HG38

Steps to reproduce:

singularity run -B /usr/lib/locale/:/usr/lib/locale/ -c --pwd $(pwd) -W $(pwd) -B $(pwd) docker://google/deepvariant:1.4.0 /opt/deepvariant/bin/run_deepvariant   --model_type WES   --ref $REF --reads $CRAM --output_vcf $VCF --output_gvcf $GVCF --intermediate_results_dir ./int_results  --regions $BED

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions