Fig. 1

Visualization of allele structure change with four levels of q (\(q=0,0.1,0.2,0.3\)). \(q=0\) means no compression on the original motif database. With q growing larger, only truly representative motifs are selected and rare/contamination motifs possibly resulting from sequence error disappear and the allele’s domain structure starts to grow more clear. The ACAN and WDR7 VNTR sequences from 148 HGSVC and HPRC assemblies are annotated into a string of efficient motifs selected at each level of q. Repeat motifs are color-coded and each individual annotation is plotted as a series of colors (row). Repeat motif unit is shown on x-axis. A. ACAN (chr15:88855422–88857301 on GRCh38) repeat alleles ranked by decreased length. B. WDR7 (chr18:57024494–57024955 on GRCh38) repeat alleles ranked by decreased length