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. 2019 Jun 20;105(1):151–165. doi: 10.1016/j.ajhg.2019.05.016

Figure 3.

Figure 3

Computational Validation of the (AAGGG)exp RE

The (AAGGG)exp RE at the coordinates chr4:39350045–39350095 was added to the reference databases of the tools exSTRa, EH, GangSTR, TREDPARSE, and STRetch and WGS data from four unrelated individuals with CANVAS was analyzed (CANVAS1, orange; CANVAS2, blue; CANVAS8, red; and CANVAS9, green). The non-CANVAS control subjects are presented in gray. Plots have been divided into PCR-based and PCR-free WGS (left and right columns, respectively). The Y and X axes for ExpansionHunter, GangSTR, and TREDPARSE refer to the number of repeat units on the longer and shorter allele per individual, respectively. The y axis for the STRetch plot refers to the number of individuals.