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. Author manuscript; available in PMC: 2019 Jan 11.
Published in final edited form as: Nature. 2018 Jul 11;559(7714):350–355. doi: 10.1038/s41586-018-0321-x

Figure 3. Repeat expansions at fragile site FRA10B driving breakage at 10q25.2.

Figure 3

(a) Germline variants at 10q25.2 associate strongly with terminal 10q mosaic deletion (Fisher's exact test, n=120,664 individuals). Left boundaries of the deletions are called with error; true breakpoints are probably near-identical (Supplementary Note 4). (b) UK Biobank carriers of terminal 10q deletion are predominantly female (51 of n=60 individuals; error bars, 95% CI) with age distribution similar to the overall study population (violin plot centers, means; error bars, 95% CI). (c) WGS samples with terminal 10q deletion (two parent-child duos) carry inherited expanded repeats at FRA10B.