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bioRxiv · 10.1101/2024.09.11.612418

SVbyEye: A visual tool to characterize structural variation among whole genome assemblies

Porubsky, D.·Guitart, X.·Yoo, D.·Dishuck, P. C.·Harvey, W. T.·Eichler, E. E.
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Abstract

MotivationWe are now in the era of being able to routinely generate highly contiguous (near telomere-to-telomere) genome assemblies of human and nonhuman species. Complex structural variation and regions of rapid evolutionary turnover are being discovered for the first time. Thus, efficient and informative visualization tools are needed to evaluate and directly observe structural differences between two or more genomes. ResultsWe developed SVbyEye, an open-source R package to visualize and annotate sequence-to-sequence alignments along with various functionalities to process alignments in PAF format. The tool facilitates the characterization of complex structural variants in the context of sequence homology helping resolve the mechanisms underlying their formation. Availability and implementationSVbyEye is available at https://github.com/daewoooo/SVbyEye.

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Porubsky, D., Guitart, X., Yoo, D., Dishuck, P. C., Harvey, W. T., Eichler, E. E.. 2024-09-14. SVbyEye: A visual tool to characterize structural variation among whole genome assemblies. https://doi.org/10.1101/2024.09.11.612418

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