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[FEATURE] Option to output gvcf files from haplotypecaller #764

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wpoehlm opened this issue Sep 29, 2022 · 1 comment
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[FEATURE] Option to output gvcf files from haplotypecaller #764

wpoehlm opened this issue Sep 29, 2022 · 1 comment
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enhancement New feature or request
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@wpoehlm
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wpoehlm commented Sep 29, 2022

Description of feature

In previous versions of Sarek, there was an option to save gvcf files as output from the GATK haplotypecaller. With the addition of joint-calling to the pipeline, the option to save gvcfs is no longer present in Sarek 3. I suggest that this feature should be re-introduced for a few reasons:

  • Analysts often use gvcf files for QC and preliminary analysis
  • QC should be performed before joint calling so that poor-quality samples can be flagged and removed before joint calling. Without the option to save gvcfs, the user is locked into doing the joint calling blindly with all samples
  • If a user wants to add additional samples or cohorts at a later time, they will be unable to perform joint calling without access to previously generated gvcf outputs.

I realize that this issue is similar to #453, so if you would like me to remove it and expand the conversation on that issue just let me know!

Best,
Will

@wpoehlm wpoehlm added the enhancement New feature or request label Sep 29, 2022
@maxulysse maxulysse added this to the 3.3 milestone Feb 21, 2023
@FriederikeHanssen
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Hey! added in #1172 , it was partially already there but should be now available for various scenarios

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