Fig. 4

NGS and Long-read sequencing for diagnosing short tandem repeat expansions. Flow chart shows the use of short-read NGS and two long-read sequencing methods for genotyping STR expansions: PacBio single-molecule real-time (SMRT) sequencing and Oxford Nanopore Technology (ONT) long-read sequencing. The alignment of reads to the genome can be seen for all three methods; short-reads are ‘tiled’ together to estimate the repeat size and sequence, while long reads easily span repeat and flanking regions. Nanopore sequencing high error rates can be overcome via sufficient coverage