annotation of SV (structural variants)

Question

[Bogdan]

Dear all,

please could you let me know, any recommendation for a program/software that does the annotation of the SV (structural variants) with the closest gene(s), and other biological features ? thanks ;)

-- bogdan

[LGMgeo]

I suggest using AnnotSV for SV annotation (with OMIM, DGV, 1000g, haploinsufficiency, TAD, ... and also with your own in-house information)

You can look at this post describing the annotSV tool: Annotation for SV and CNV

Answer 1

[harishk0201]

I tend to generally use intansv. link for the R Package

You'll need to create a custom tab delimited annotation file for it, but its really easy!

[Bogdan]

thank you very much ;)