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Uprade GATK to v4.3.0 for gCNV variant calling. #218

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holtgrewe opened this issue Oct 7, 2022 · 1 comment · Fixed by #265
Closed

Uprade GATK to v4.3.0 for gCNV variant calling. #218

holtgrewe opened this issue Oct 7, 2022 · 1 comment · Fixed by #265
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@holtgrewe
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holtgrewe commented Oct 7, 2022

Is your feature request related to a problem? Please describe.
At the moment, gCNV uses per-sample calls in case mode. Families are then joined with merge_cohort_vcfs which has issues because reference calls are not marked as such consistently.

Describe the solution you'd like
The gCNV docs that "It is possible to analyze multiple samples simultaneously in a case mode command. Provide each sample with -I.".

We should do this and thus perform the case mode analysis per family. However, it is unclear how much this will help as gCNV docs also say "PostprocessGermlineCNVCalls consolidates the scattered GermlineCNVCaller results, performs segmentation and calls copy number states. The tool generates per-interval and per-segment sample calls in VCF format and runs on a single sample at a time."

Describe alternatives you've considered
N/A

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@holtgrewe
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Note: since 4.2.0.0, gCNV has a pipeline for joint gCNV exome joint calling.

@holtgrewe holtgrewe self-assigned this Dec 16, 2022
@holtgrewe holtgrewe changed the title Adjust gCNV case mode to perform calls per family Uprade GATK to v4.3.0 for gCNV variant calling. Dec 21, 2022
This was referenced Dec 9, 2024
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