PRJNA175073
Homo sapiens Targeted Locus (Loci)
The goal of this study was to test PacBio SMRT sequencing technology on expanded CGG repeat DNA from the human FMR1 gene. We find that this technology is capable of sequencing repeat expansions in all major expansion classes associated with human diseases at this gene. This is a significant technological breakthrough for molecular studies of all trinucleotide repeat expansion disorders.