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annotation of SV (structural variants)

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

sv annotation
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updated by harishk0201 harishk0201 • written by Bogdan Bogdan

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

• 1 views • link
written by LGMgeo LGMgeo

1 answer

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!

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written by harishk0201 harishk0201

thank you very much ;)

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written by Bogdan Bogdan

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