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Regenotyping with DRAGEN 4.2 #6

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Solyris83 opened this issue Nov 25, 2024 · 0 comments
Open

Regenotyping with DRAGEN 4.2 #6

Solyris83 opened this issue Nov 25, 2024 · 0 comments

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@Solyris83
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Hi, I was redirected here from your publication found here, https://www.nature.com/articles/s41587-024-02382-1#Sec11.
Very interesting work, I would like to get some comments on why re-genotyping (ie Paragraph or Graphtyper2) SV calls is totally missing and will it benefit the DRAGEN 4.2 pipeline?

I am working with the general assumption that population level analysis would probably benefit from re-genotyping after some clustering is done which will hopefully increase call rates per sample with rescued events found in other samples.

Any comments and thoughts on this would be greatly appreciated.

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