Structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing

This poster presents a comprehensive Oxford Nanopore multiomic sequencing workflow for structural and epigenetic profiling of D4Z4 arrays in facioscapulohumeral muscular dystrophy (FSHD). Using ultra-long (ULK) and ligation-based (LSK) sequencing, we jointly resolve haplotypes, quantify repeat copy number, and measure DNA methylation and chromatin accessibility on a single platform.

Download this poster to discover:

• How ULK reads span entire D4Z4 arrays to directly count repeat units across all four DUX4 alleles
• The high concordance between ULK spanning reads and LSK de novo assemblies for repeat sizing
• How nanopore sequencing distinguishes 4q and 10q haplotypes and confirms pathogenic 4qA alleles
• Direct detection of native DNA methylation revealing hypomethylation of pathogenic contracted arrays
• Chromatin accessibility profiling using 6mA chromatin stencilling to identify open chromatin at pathogenic alleles
• A single-platform approach that streamlines comprehensive molecular testing for FSHD