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Do VQSR for HaplotypeCaller calls #513

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malinlarsson opened this issue Jan 26, 2018 · 5 comments
Closed

Do VQSR for HaplotypeCaller calls #513

malinlarsson opened this issue Jan 26, 2018 · 5 comments

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@malinlarsson
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malinlarsson commented Jan 26, 2018

Expected Behavior

Filter the calls from HaplotypeCaller with Variant Quality Score Recalibration according to GATK best practise (Tools VariantRecalibrator, ApplyRecalibration, see https://gatkforums.broadinstitute.org/gatk/discussion/39/variant-quality-score-recalibration-vqsr or a more recent version)

Current Behavior

Variant quality score recalibration currently not included.

@szilvajuhos
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We should do it for/with GATK 4.0 only.

@malinlarsson
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Sounds like a good plan.

@maxulysse
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@szilvajuhos szilvajuhos changed the title Filter HaplotypeCaller variants Do VQSR for HaplotypeCaller calls Feb 7, 2018
@apeltzer
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apeltzer commented Feb 9, 2018

Keep in mind, that you'd need a "bit" of data for doing VQSR properly. The recommendation was to use at least 30 WES or 1WGS sample for performing VQSR.

I started working on a solution (in NGI-ExoSeq) to automatically download 35 of the 1000G Exome Datasets, run HaplotypeCaller on them and use them for analysis procedures with less than the minimum required 30 WES samples.

@maxulysse
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Transferred to the new nf-core/sarek repo

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