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brentp / duphold

don't get DUP'ed or DEL'ed by your putative SVs.
MIT License
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SV Size and duphold #33

Closed jjfarrell closed 4 years ago

jjfarrell commented 4 years ago

How small and SV is duphold useful for? The sensitivity and specificity example in the README gave an example with SVs >300bp. How does the duphold work as well in the 50-300bp range? Is there a minimum size SV that the stats are effective?

brentp commented 4 years ago

The larger the SV, the more reliable the depth measurement. But, I think it should work for most SVs even down to ~50 bases as long as the break-points are accurate. I don't have exact numbers as this will vary by caller, by sequencer, by sample quality, etc.

jjfarrell commented 4 years ago

Thanks for the quick response. We have some validated SVs with precise breakpoints in that size range we can test out.