Figure 1.
Figure 1. Genomic distribution of CMEs in FA patients. (A) Genomic distribution of the 51 CMEs detected in blood DNA of 16 of 130 FA patients. The circular plot shows the chromosomal location of each of the 51 mosaic events detected (red bars: losses; blue bars: gains; orange bars: multicopy gains; green bars: copy-neutral events or UPDs). (B) Ratios of the dosage values (LRR) as a function of the type of rearrangement and the estimated fraction of cells. LRR signals follow a linear correlation with the percentage of cells with mosaicism for each type of rearrangement (losses, copy-neutral events or UPDs, gains, and multicopy gains).

Genomic distribution of CMEs in FA patients. (A) Genomic distribution of the 51 CMEs detected in blood DNA of 16 of 130 FA patients. The circular plot shows the chromosomal location of each of the 51 mosaic events detected (red bars: losses; blue bars: gains; orange bars: multicopy gains; green bars: copy-neutral events or UPDs). (B) Ratios of the dosage values (LRR) as a function of the type of rearrangement and the estimated fraction of cells. LRR signals follow a linear correlation with the percentage of cells with mosaicism for each type of rearrangement (losses, copy-neutral events or UPDs, gains, and multicopy gains).

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