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

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Figure 2.
Figure 2.

Comparison of the inversion breakpoint region on Chromosome 6p12.3, Chromosome 10q11, and Chromosome 9q12. Reference sequences were aligned with each other and shown as dot plots. The dashed line or dot represents the position of the breakpoint of the inversions. (A) The Chromosome 6p inversion breakpoint is located in a 127 kbp region in GRCh38 missing from GRCh37. (B) The Chromosome 6p inversion breakpoint in GRCh38 and T2T. (C) The Chromosome 10q breakpoint is located in a 69 kbp region missing in GRCh38, with a surrounding 4 kbp duplication which occurs only once in T2T. (D) The Chromosome 9q12 breakpoint is located in a 28 Mbp region missing in GRCh38 shaded in blue.

This Article

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

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