Extended Data Figure 9 |. Validation of tandem repeats detected by EHdn.

a and e, Integrative Genomics Viewer read pile-up showing the reads aligning to the loci in CACNB1 and FXN in two families where tandem repeat expansions were detected in the child (bottom panels). In both families, the expansion is transmitted from the mother to the child (samples highlighted in red). b and f, Image of the gel-electrophoresis showing two bands corresponding to the expanded and unexpanded allele in the mother and child. The father has only the unexpanded allele. Results from PCR and gel electrophoresis were consistently reproduced at least twice for CACNB1 and FXN loci (see Supplementary Figures). c and g, Chromatogram of the Sanger sequencing of the expanded non-reference tandem repeat in the mother. d and h, Chromatogram of the Sanger sequencing of the expanded non-reference tandem repeat in the child. Sanger sequencing was performed using the DNA of the expanded alleles extracted from the gels.