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Fig. 4 | Molecular Neurodegeneration

Fig. 4

From: Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Fig. 4

Repeat length distributions for the PacBio RS II and ONT MinION were highly concordant. Both platforms produced highly similar distributions for all plasmids, but the repeat lengths varied widely within each plasmid, as expected based on gel intensity curves (Additional file 1: Figure S1). The C9-423 repeat length distribution is more variable than even the C9-774, perhaps because the C9-774 plasmid backbone is more tolerant of the repeat. The median number of repeats for the PacBio RS II were 35, 148, and 395 for SCA36, C9-423, and C9-774, respectively, while median repeat lengths for the ONT MinION were 37, 172, and 406, respectively. The percentage of reads that extended through the SCA36, C9-423, and C9-774, repeats were approximately 95.9%, 66.8%, and 43.8% for the PacBio RS II, respectively, while 99.5%, 97.7%, and 83.5% of ONT MinION reads extended through, respectively

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Molecular Neurodegeneration

ISSN: 1750-1326