Table 1 Estimation of repeat counts on the SCA10 dataset. The gel estimated counts were from the previous study on the pathogenic allele [46]
From: Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
BAMself | TRhist | RepeatHMM | Gel estimated | Estimation in [46] | ||||
|---|---|---|---|---|---|---|---|---|
Participant A | 15 | 15 | 10 | 27 | 17 | 830 | ~840 | ~870 |
Participant B | 15 | 15 | 5 | 41 | 17 | 825 | ~820 | ~884 |
Participant C | 14 | 14 | 5 | 27 | 17 | 488 | ~530 | ~514 |