somatic SV calling with bionano optical mapping data
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12 months ago
eebloom ▴ 110

I have raw molecule data (.bnx.gz) for cancer samples and I want to perform somatic SV (and CNV) calling.

I am not as well versed in variant calling with OM data as with WGS (short- and long-read) so I am just looking for the "gold-standard" for this kind of analysis.

It seems bionano solve is the software that bionano themselves recommend. But there is also bionano access which also advertises SV characterisation.

I have also come across this publication for COMSV which claims to detect somatic SVs from bionano cancer data. Does anyone have experience using this and is it any better than bionano's in house software?

OM SV bionano alignment variants • 576 views
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