Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

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Figure 4.
Figure 4.

Complex inversion on Chromosome 19 (RD_P546). (Upper panel) Inversion structure with duplicated segments in color and nonduplicated segments in gray. Junction numbers are given below the resulting derivative. (Lower panel) Breakpoint junction sequences with number of base pairs inserted in parentheses.

This Article

  1. Published in Advance November 1, 2024, doi: 10.1101/gr.279346.124 Genome Res. 34: 1785-1797

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