This prototype visualization of a genomic variation graph zooms in on portions of the NOTCH2 gene, an important gene for development. The colored bands represent 5 different variants of the gene, with rectangular shapes representing nodes (shared DNA sequences) and the colored ribbons between nodes representing paths/edges (not sequences). In the top panel, introns are shaded out (at right and left) while the solid colors represent exons 4 and 5. The exons are shown in increasingly greater detail in the bottom two panels. The visualization tool can also provide an intuitive graphical view of inversions, as shown in the green and red loops in the simulated example to the right. Images courtesy of Wolfgang Beyer, software developer for the Computational Genomics Laboratory at the University of California, Santa Cruz.

Visualizing Human Genome Variation

A comprehensive, genomic variation graph offers an intuitive view of how human genomes vary

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