Supplementary Figure 4: Evaluation of repeat quantification approaches.
From: Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing
a) Correlation of manual counted repeat lengths with sequence base methods. Decoy alignment against reference with 3-100 repeats with Albacore (window 10k and 16k), Guppy (fast and hac mode, 1k and 16k window size) and Flappie base-calling (n=204). b) Correlation of manual count with RepeatHMM and STRique results (n=204). c) Manual counted set of plasmid reads on y-axis correlating with guppy base-calling and decoy alignment approach, RepeatHMM and STRique raw signal pipeline on x-axis. Only data points shown which could be evaluated with all four methods (n=15, 49, 45, 48, 47; Pearson correlation).
