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. 2021 Jul 22;108(8):1359–1366. doi: 10.1016/j.ajhg.2021.06.015

Figure 1.

Figure 1

DNAm signatures generated for Kleefstra syndrome by iteratively resampling 2–9 affected individuals for the discovery cohort (n = 10 total) versus age- and sex-matched control subjects (n = 40)

(A) Relationship between the number of affected individuals in the discovery group (x axis) and mean signature size (y axis), i.e., number of significant CpGs (FDR-corrected p value < 0.05, mean group difference > 10%).

(B) Mean number of CpGs in each signature that overlap with the 10-sample signature CpGs (239 CpGs).

(C) Sensitivity of each signature (FDR-corrected p value < 0.05), tested on the separate validation set of KS-affected individuals (n = 10; 609 signatures).

(D) Sensitivity of the corresponding 609 signatures meeting an FDR-corrected p value < 0.05 (x axis) versus an FDR-corrected p value < 0.1 (y axis). With fewer than eight affected individuals in the discovery group, the FDR10 signatures were more sensitive than the corresponding FDR5 signatures. At eight or more individuals in the discovery group, the signatures performed equally well or the FDR5 signatures performed better.