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. Author manuscript; available in PMC: 2022 Aug 3.
Published in final edited form as: Nature. 2020 Jul 27;586(7827):80–86. doi: 10.1038/s41586-020-2579-z

Extended Data Figure 8 |. Methods for sizing of the CTG repeat in DMPK.

Extended Data Figure 8 |

a, While short CTG repeats were correctly sized by ExpansionHunter (the results were perfectly matched with fragment analysis), slight discrepancies were observed in the estimates for premutation alleles between ExpansionHunter and PCR-based fragment analysis. Note that the length of the premutation CTG repeats (42 CTGs) was close to the read length of the HiSeq X platform (150 bp). b, Predictions of the presence of longer CTG repeats were validated by repeat-primed PCR, although the estimated size by ExpansionHunter was shown to be an underestimate (the saw-tooth pattern of repeat-primed PCR extended longer than the predicted size). Repeat-primed PCR experiments were consistently reproduced at least three times for the large expansions. Repeat sizing experiments of PCR-amplifiable samples were consistently reproduced at least twice.