pathSTR visualization of the repeat length. (A) Scatter plot length visualization of the RFC1 repeat, comparing, per individual, the longer allele against the shorter. Pathogenic repeats in RFC1 have a recessive inheritance with pathogenicity depending on the motif composition, so observing longer alleles in the healthy population is not unexpected. (B) Violin and swarm plots showing the CACNA1A repeat length, split by The 1000 Genomes Project self-reported geographical ancestry (AMR), admixed Americans; (EUR) Europeans; (EAS), East Asians; (AFR), Africans; (SAS), South Asians, and sex, showing the pathogenic repeat length cutoff from STRchive with a red horizontal line. This locus shows longer repeat alleles are found in individuals of East Asian ancestry and shorter repeat alleles for individuals of African ancestry.
