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Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End

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Analysis Identifies D4Z4 Variants and Methylation Patterns in FSHD and BAMS, Suggesting Diagnostic Advances.

This research aims to understand the genetic and epigenetic architecture of D4Z4 macrosatellites associated with FSHD and BAMS.
Utilized ultra-long whole-genome sequencing and Cas9-targeted sequencing.
Developed the D4Z4End2End workflow for detailed genetic and methylation analysis.
Analyzed samples from FSHD1, FSHD2 patients, and BAMS patients along with control samples.
Achieved high-depth sequencing of full-length D4Z4 arrays up to 40 repeat units.
Identified new allelic variants and complex D4Z4 rearrangements.
Revealed length- and SMCHD1-dependent methylation patterns, enhancing knowledge on FSHD and BAMS.

Xiao et al. (2026) studied this question.

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