
Motif characterization with MotifScope on long reads. (A) Motif characterization of the spanning reads of the RFC1 repeat in the blood of a CANVAS patient. The sequences contain the RFC1 repeat and 10 bp sequences flanking both sides of this region. (B) Motif characterization of the spanning reads of forensic loci D3S135. The two assembly alleles of the HG002 genome are highlighted in red boxes and the repeat is highlighted in the orange box with 10 bp flanking this region. In each figure, the clustering of the sequences is shown in the left panel, the right panel shows the motif composition of the repeat, with distinct motifs represented in different colors, as indicated by the color bar on the right side of the figure. The number following the motif on the color bar indicates the average number of occurrences of the motif per read.











