kishwarshafin / pepper

PEPPER-Margin-DeepVariant
MIT License
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Joint Genotyping Recommendation #198

Open SophieS9 opened 12 months ago

SophieS9 commented 12 months ago

I'm running DeepVariant Pepper on various samples from different trios. I need to carry out joint genotyping as I need to be aware of when a variant is homozygous reference and when there is poor confidence in a region so the variant couldn't be determined.

I've tried using GLNexus but there appears to be an issue with the format of the gVCF from pepper - see issue https://github.com/dnanexus-rnd/GLnexus/issues/287

Are there any recommendations for different joint genotyping approaches?

Thanks!

Sophie