Extended Data Fig. 10: Analysis of STR expansion characteristics and community-specific variability.

(a) Dot plots show the number of repeat units versus the relative size increase of STR expansions of different period sizes. The horizontal dashed line indicates the minimum relative size increase (0.5) and the vertical dashed line indicates the minimum number of repeat units (10) required for an STR expansion to be further genotyped across all individuals in the cohort. (b) Matrix shows the normalised standard deviation (range 0:1) of allele sizes within each community for all STR sites with expansions in one or more individuals, in which allelic composition between the groups was significantly different. Hierarchical clustering was performed to group the STR sites based on the different patterns of variability between communities.