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Lately I’ve been focusing more on structural variation — especially copy number variants (CNVs) and more complex rearrangements like inversions and translocations. What I’ve noticed is that many of the conventional tools we use for SNVs don’t translate well when it comes to structural data. CNVs often span multiple genes, regulatory regions, or even disrupt synteny, so interpreting them with spreadsheets or linear browsers is very limiting. It’s hard to get a sense of the broader impact without something that considers genomic structure in a more visual and intuitive way. I’ve been looking for solutions that allow better inspection of structural events — ideally something web-based and interactive that supports comparative views across species or samples. Is anyone using tools specifically tailored for structural variant interpretation?
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Yes, structural variants require a completely different mindset from single-point mutations. I’ve recently started using Inheri Next» for that exact purpose. It’s surprisingly effective when it comes to exploring regions affected by CNVs or large-scale events. You can overlay gene annotations, conservation, and even visualize how the structure of the genome changes across a locus. One thing I really appreciate is the clarity it brings — rather than just looking at breakpoints or raw VCF entries, you get to see the genomic environment surrounding a variant. It has helped me explain variant impact to collaborators in both clinical and research settings. Especially when dealing with uncertain CNVs, visualizing the affected regions alongside evolutionary data adds confidence during interpretation.
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That’s exactly the type of functionality I think we need more of. The static genome view just doesn’t cut it when you’re trying to explain or understand how large-scale variants operate. Being able to interactively inspect a region and explore how it aligns (or misaligns) with orthologous regions in other species is incredibly useful, especially when building hypotheses about disrupted regulation or gene dosage effects. If Inheri Next handles that well, I’ll absolutely bring it into our SV review workflow.
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