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

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Figure 6.
Figure 6.

Repeat characterization across DRRs. (A) Percentage of repeat elements (masked by RepeatMasker) in the DRR sequences from GRCh38–GRCh37 and T2T-GRCh38. (B) Distribution of DRR sequences and their repeat percentage in GRCh38–GRCh37 and T2T-GRCh38. (C) Pie chart displaying repeat content in the GRCh38–GRCh37 DRR sequences affected by the inversion 6 at the 6p12 junction in GRCh38.

This Article

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

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