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Dragen variant calling #61

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j0ntt opened this issue Mar 15, 2024 · 3 comments
Open

Dragen variant calling #61

j0ntt opened this issue Mar 15, 2024 · 3 comments

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@j0ntt
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j0ntt commented Mar 15, 2024

Hi,

While Dragmap is freely available, is the rest of the Dragen software also? Is it possible to download the software that performs the variant calling?

@ghost
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ghost commented Mar 21, 2024

You can use gatk4 in dragen-mode for variant calling.

@j0ntt
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j0ntt commented May 3, 2024

@zimmermf

Thank you. And is this Dragen mode somehow different from normal Dragen variant calling method?

@ghost
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ghost commented May 3, 2024

Regarding your question, you can read this article on functional equivalence of both methods:
https://gatk.broadinstitute.org/hc/en-us/articles/4410456501915-Functional-equivalence-in-DRAGEN-GATK

I personally compared the GATK best-practices pipeline with DRAGEN-GATK using a mock-dataset and the DRAGEN pipeline had the same recall but a lower precision.
In my case, I had a substantially lower number of duplicates after duplicate marking when I used DRAGMAP for the alignment and haven't figured out yet why this is the case.

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