Fig. 2.

Human lineage-specific expansion. The largest human vs. NHP STR/VNTR copy number differences. The top 30 ab initio (no evidence of tandem repeats in other ape genomes) and HSE loci for intronic, intergenic, UTR, and exonic regions, if available, are shown in green (NHP) and blue (human) violin plots, while the solid red lines represent the number of tandem repeat copies for each locus in the human genome reference (GRCh38). GRCh38 carries a significantly shorter allele in 73, 57, 9, and 13% of the intronic, intergenic, 5′/3′ UTR, and exonic loci, respectively. In the case of exonic STRs/VNTRs, we selected additional protein-coding loci from the high-quality STR/VNTR set.