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[Preprint]. 2023 Nov 16:2023.11.16.23298623. [Version 1] doi: 10.1101/2023.11.16.23298623

Figure 3: DBSCAN identifies increased burden of rare STR expansions in AD.

Figure 3:

a, Three separate STRs are shown as examples of AD-only STR expansions, control-only STR expansions, or shared STR expansions as identified by DBSCAN. For each STR, y-axis shows tract length for the STR, and the x-axis reflects the individuals (each represented by one point and ranked by their tract length). Orange points represent AD cases and green points represent controls. b, STR tract lengths in number of repeat units longer than GRCh38 reference genome for control STR expansions (green) and AD STR expansions (orange). c, Repeat unit lengths for STR expansions seen in controls (green) and AD cases (orange). Histogram shows values as proportion of STR expansions seen in controls and cases respectively. d, Number of STR expansions identified by DBSCAN per individual in controls (green) versus cases (orange). Each point represents one individual. Right panel is zoomed in for individuals with fewer than 50 STRs. e, Odds ratio for AD case/control status for individuals carrying varying numbers of STR expansions. Odds ratios > 1.0 represent higher odds of having AD. f, Stacked barplot of Braak stages for individuals with ≤ 10 expansion (top) or > 30 expansions (bottom). Braak stages are from 0–6, with higher values reflecting more severe neuropathology.