Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Theresa LüthJoshua LaβSusen SchaakeInken WohlersJelena PozojevicRoland Dominic Go JamoraRaymond L RosalesNorbert BrüggemannGerard SaranzaCid Czarina E DiestaKathleen SchlüterRonnie TseCharles Jourdan ReyesMax BrandHauke BuschChristine KleinAna WestenbergerJoanne TrinhPublished in: Genes (2022)
Nanopore sequencing can reliably detect SVA hexanucleotide repeat numbers, methylation and, lastly, variation in the repeat motif.