ONT Sequencing on Genomic DNA: MECP2 Duplication
Long read whole genome sequencing data was also generated using the Oxford Nanopore Technologies sequencing platform.  After DNA quality was assessed using Qubit and pulsed-field gel electrophoresis (PFGE), 15ug was used to construct a library using the SQK-LSK110 ligation sequencing kit with an average fragment length of 15Kb.  Using the Oxford Nanopore Technologies Promethion instrument, one flowcell was sequenced per library with an average yield of 90Gb per sample.  Basecalling was performed using Guppy version 4.3.4+ecb2805 and methylation analysis with Megalodon version 2.3.1 [https://github.com/nanoporetech/megalodon] using default parameters.