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Optimum parameters for long SV detection #439

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MariosGvr opened this issue Nov 2, 2023 · 0 comments
Open

Optimum parameters for long SV detection #439

MariosGvr opened this issue Nov 2, 2023 · 0 comments

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@MariosGvr
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Hi and thank you for this amazing tool!

We are currently trying to detect known inversions (much larger than 100kbp, they could reach several Mbp) in some genomic regions of interest.
How would you advise setting the parameters to help Sniffles detect and report long SVs (deletions and inversions)?
I have Hifi reads (~20x coverage) aligned on GRCh38 and CHM13 using pbmm2 and Winnomap.

Thank you,
Marios

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