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Pytest for VQSR-flow #1027

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asp8200 opened this issue May 19, 2023 · 0 comments
Closed

Pytest for VQSR-flow #1027

asp8200 opened this issue May 19, 2023 · 0 comments
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enhancement New feature or request PR opened

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@asp8200
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asp8200 commented May 19, 2023

Description of feature

We are lacking a pytest of the VQSR-flow. (Both the GATK version and the upcoming Sentieon version.)

The challenge is that VQSR crashes on our current testdata for joint-germline. (Problems include too little variation in testdata and testdata based on a different reference-genome than the one used for the VQSR-reference-files in iGenomes.)

Here is a long Slack conversation where I try to explain the problems with constructing the desired pytest.

https://nfcore.slack.com/archives/C02MDBZAYJK/p1684238360591329

This is how I run the VQSR-flow manually:

GATK:
nextflow run main.nf -profile docker --input mapped_joint_bam_HG002_HG003_1perc_of_40x.csv --tools haplotypecaller --step variant_calling --joint_germline --outdir results --skip_tools haplotypecaller_filter

Sentieon:
nextflow run main.nf -profile docker --input mapped_joint_bam_HG002_HG003_1perc_of_40x.csv --tools sentieon_haplotyper --step variant_calling --joint_germline --outdir results --skip_tools haplotypecaller_filter --sentieon_haplotyper_out_format gvcf

(The syntax for the Sentieon-cmd may be changed.)

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