Other SV types

[drtconway]

Hi. Thanks for making what looks like a really promising tool.

Is there a tool you know of for post processing the SV calls to resolve the INS/DEL events into INV or DUP where necessary?

Are you planning to resolve them within longcalld or is it your expectation that these should be resolved downstream?

thanks,
Tom.

[yangao07]

We are planning to resolve INV and other complex SVs within longcallD in the future version.
Currently, longcallD only focus on germline variants and mosaic MEIs, so complex SVs including INVs which show up more often in tumors are not handled.

Sorry but I am not aware of tools for post processing SV calls.

[drtconway]

Fair enough. Our use case is rare disease, and we routinely encounter DUP and INV variants in trios - both inherited, and de novo.

Some of these are complex (often there are smallish DUP and DEL events at the ends of a larger INV or DUP), but not usually at the scale that you typically encounter in somatic tumour samples.