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Fig. 3 | Genome Biology

Fig. 3

From: NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Fig. 3

ABCA7 VNTR squiggle clustering by NanoSatellite. Centroids are shown which were extracted from hierarchical ABCA7 VNTR squiggle unit clusters originating from positive (a) or negative (b) DNA strands. Each cluster is shown in a different color. We compared these centroids to positive (c) and negative (d) reference squiggles with corresponding sequence motifs shown below. The top sequences (blue and purple) correspond to the expected VNTR motifs, while the sequences below (orange and green) contain nucleotide differences (in bold and italic). The alternative (orange) cluster, observed in panel a, contains two alternative alleles: a guanine insertion (solid orange line in panel c) and a cytosine to adenine substitution (dashed orange line in panel c)

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