Fig. 4: Pathogenic RED frequencies in different populations (African 12,786, American 5,674, East Asian 1,266, European 59,568, South Asian 2,882). | Nature Medicine

Fig. 4: Pathogenic RED frequencies in different populations (African 12,786, American 5,674, East Asian 1,266, European 59,568, South Asian 2,882).

From: Increased frequency of repeat expansion mutations across different populations

Fig. 4: Pathogenic RED frequencies in different populations (African 12,786, American 5,674, East Asian 1,266, European 59,568, South Asian 2,882).

a, Forest plot of pathogenic allele carrier frequency divided by population. Pathogenic alleles are defined as those larger than the premutation cutoff (Fig. 1b). The data are presented as squares showing the estimated pathogenic allele carrier frequency and bars showing the 95% confidence interval values. b, Bar chart showing the proportion of pathogenic allele carrier frequency repeats by ancestry. Both plots have been generated by combining data from 100K GP and TOPMed from a total of N = 82,176 unrelated genomes. N individuals may vary slightly between loci due to data quality and filtering (Supplementary Tables 17 and 18). Predicted ancestries are abbreviated as follows: AFR, African; AMR, American; EAS, East Asian; EUR, European; SAS, South Asian.

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