Extended Data Fig. 5: PC values of genomes carrying normal and pathogenic alleles.
From: Increased frequency of repeat expansion mutations across different populations
Principal component (PC) values on all genomes within (A) the 100 K GP and (B) TOPMed cohorts. Black dots represent genomes having a repeat size beyond premutation and full mutation range for X-linked and autosomal dominant loci, split by locus. For recessive loci, the plot shows genomes carrying monoallelic and biallelic expansions. Note that RFC1 has only been analysed in the 100 K GP dataset due to code availability. Note that ATXN3 is missing from the 100 K GP panels as there are no pathogenic alleles in this cohort (Supplementary Table 7).
