Skip to main content

Advertisement

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