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Fig. 8 | Genome Biology

Fig. 8

From: Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Fig. 8

a Genome-wide distribution of predicted change in repeat copy number, for nanopore MinION (rel3) and PacBio (SRR3197748) reads from the same human (NA12878). Nanopore tends to have negative and PacBio positive predicted changes, especially for short repeat units. Read number = 10,000 (randomly sampled). Nanopore reads are shown in blue and PacBio in red. bd Genome-wide distribution of predicted change in repeat copy number for nanopore MinION (rel3) and PacBio (SRR3197748) reads from the same human (NA12878), and nanopore PromethION (ERR2585112-5) from a different individual (NA19240). b Distributions for AG di-nucleotide repeats. c Distributions for GAT. d Distributions for CTT. CTT shows the most prominent strand bias in nanopore rel3 reads among all types of triplet repeat (all types are in Additional file 1: Figures S9, S10, S13–S16). PromethION shows less strand bias compared to rel3. y-axis: read count, x-axis: change in copy number relative to the reference human genome

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