PRJNA795764
Elucidating hexanucleotide repeat number within the X-linked dystonia-parkinsonism (XDP)-related SVA retrotransposon in TAF1 with Nanopore sequencing
In this study, we investigate the full-length TAF1 SVA and used a multiplexed Nanopore sequencing approach to analyze the hexanucleotide repeat number, repeat motif interruptions and Single nucleotide variants besides the hexanucleotide repeat domain in 96 patients with XDP.