Comments (3)
Thanks @Davidseye
so that depends a bit.. if you have a cell mix and expect low frequency SV (below 20% VAF in the sample) then you need to run mosaic mode. That by default reports down to 5% of the reads or at least 2 reads support. You can alter this behaviour e.g. when you have more coverage since this is the most impacting factor for your detection.
Hope that helps
Fritz
from sniffles.
Just to add, it also depends on how similar the SV are across the cells because we are doing a clustering step on the per read signal.. So if the SV are very similar it will be grouped together and reported as one SV. If the two or more SV are different enough then it will be separate entries.
Thanks
Fritz
from sniffles.
Related Issues (20)
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from sniffles.