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Fig. 7 | Genome Biology

Fig. 7

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

Fig. 7

a Prioritization of predicted repeat copy number changes in a BAFME patient. The BAFME expansion (AAATA: SAMD12 intron) is ranked 4th out of 0.7 million tandem repeats annotated in rmsk.txt. Forward (red) and reverse strand reads (blue) are shown separately. Histograms are raw output of tandem-genotypes-plot. b Prioritization of predicted repeat copy number changes in whole genome nanopore reads (NA12878 rel3) plus chimeric human/plasmid reads with pathological triplet-repeat expansions (AR, ATN1, ATXN2, ATXN3, ATXN7, CACNA1A, and HTT). These pathological expansions are prioritized within the top 10 out of 0.7 million tandem repeats in the genome, when compared to three control datasets using tandem-genotypes-join. c Comparison to control datasets with tandem-genotypes-join (joined) effectively de-prioritized other repeats, versus only using a single sample (single). y-axis: prioritization ranking

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