Or which techniques or standards do you consider best when visualizing SVs (insertion, deletion, inversion, translocation, duplication)? Thanks.
Or which techniques or standards do you consider best when visualizing SVs (insertion, deletion, inversion, translocation, duplication)? Thanks.
While I admittedly haven't tried all visualization tools, the two that I do use and would recommend are IGV and Savant. IGV has a nice "split screen" mode for viewing "ends" of two disjoint genomic loci as described by a SV call w.r.t. the reference genome. Savant takes an alternate approach in that they use arcs to draw connections between disjoint loci. The height of the arc indicates distance and the color indicates type (del, inv, dup, etc.).
Ira Hall and I cover some of these aspects, with a particular focus on complex variation in this review.
4 years later. Is there any other tools that can better visualize structural variants (vcf files)?
Here's a link to my post about visualizing fusion breakpoints from RNA-seq data, which is quite similar to visualization of translocations.
Try using Strand NGS the elastic genome browser is too good to visualize large SVs.
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Bump this post. Still looking for a command line tool that can simply take screenshots with paired end annotations (split reads, everts, too far....)
This is what I found so far... https://github.com/crazyhottommy/DNA-seq-analysis/blob/master/visualize_structural_variants.md Not satisfied yet.