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Enable joint variant calling for germline samples #75

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ikeller opened this issue Dec 10, 2019 · 6 comments
Closed

Enable joint variant calling for germline samples #75

ikeller opened this issue Dec 10, 2019 · 6 comments
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enhancement New feature or request
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@ikeller
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ikeller commented Dec 10, 2019

Allow calling of germline short variants jointly on multiple samples as outlined here https://software.broadinstitute.org/gatk/documentation/article?id=11019. This approach is expected to increase accuracy and sensitivity as it makes use of population-wide information.

Each sample is first called individually using HaplotypeCaller in -ERC GVCF mode. GenotypeGVCF is then run on all g.vcfs together. See GATK documentation here: https://software.broadinstitute.org/gatk/best-practices/workflow?id=11145

@maxulysse maxulysse self-assigned this Dec 10, 2019
@maxulysse maxulysse added the enhancement New feature or request label Dec 10, 2019
@maxulysse
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from @jfnavarro on #185

It would be nice if Sarek would support to perform a joint analysis, for example with Strelka2 and HaplotypeCaller since they both support it. It would also be nice to combine variants for each caller (all samples).

@maxulysse maxulysse added this to the 3.0 milestone Aug 31, 2020
@knokknok
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Hi, any progress on this?
Thanks!

@maxulysse
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Hi @knokknok
No progress on it yet, but hopefully will start working on it soon-ish now that there is modules for both these tools nf-core/modules.
Plan is to make a sub-workflow dedicated to that (Joint variant calling).

@georgiesamaha
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Hi all, has any progress been made on this since the Hackathon in October 2021?

FriederikeHanssen added a commit to FriederikeHanssen/sarek that referenced this issue May 3, 2022
@FriederikeHanssen
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@GCJMackenzie is working on it at the moment to add it to 3.0

@FriederikeHanssen
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added in #595

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