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. 2023 Feb 17;146(7):2723–2729. doi: 10.1093/brain/awad050

Figure 2.

Figure 2

WGS pipeline detects increased AR CAG expansion in four large cohorts. (A) Allele size distribution across 75 035 100k GP genomes; inset highlights the distribution of alleles containing ≥34 repeats. (B) Frequency estimation of AR CAG expansion. WGS pipeline detects 1:3182 AR expansion ≥38 repeats in the pooled 100k GP, gnomAD, NIH, and MinE cohorts. Error bars show 95% CI. (C) Top) Cumulative distribution of SBMA age of onset for n = 983 KD cases from the most recent KD meta-analysis; (middle) distribution of the English male population (n = 27 827 831); and (bottom) resulting estimated prevalence of SBMA by age group, considering the literature reported male prevalence of 1:30 303 or less (dark area), and the novel estimated prevalence according to our WGS result (1:6887 males, light area).