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Question: annotation of SV (structural variants)
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gravatar for Bogdan
9 months ago by
Bogdan • 660
Palo Alto, CA, USA
Bogdan • 660 wrote:

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
annotation sv • 356 views
ADD COMMENT • link •
modified 9 months ago by harishk0201 • 20 • written 9 months ago by Bogdan • 660

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

ADD REPLY • link written 3 months ago by LGMgeo • 90
1
gravatar for harishk0201
9 months ago by
harishk0201 • 20
harishk0201 • 20 wrote:

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!

ADD COMMENT • link written 9 months ago by harishk0201 • 20

thank you very much ;)

ADD REPLY • link written 9 months ago by Bogdan • 660
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