A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

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Figure 2.
Figure 2.

Translocations and inversions identified with lrGS. Circos plots of rearrangements detected in four cases using lrGS: a t(4;9) in P1, a t(1;10) and inv(2) (P7.1 and P7.3), a t(X;9) (P9), and a t(1;4;6;4) (P12). A green/red line indicates copy number gain/loss, respectively. Genes disrupted are indicated at the breakpoint.

This Article

  1. Published in Advance October 29, 2024, doi: 10.1101/gr.279510.124 Genome Res. 34: 1774-1784

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