Why the study?
Genetic analysis of fascioscapulohumeral muscular dystrophy is difficult due to the large, repetitive D4Z4 macrosatellite array, a nearly identical 10q array, and divergent genome-wide arrays.
Population
Fascioscapulohumeral muscular dystrophy (FSHD) genetic samples
Design
Other
Authors
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Nanopore D4Z4 analysis may refine FSHD diagnosis; leaves open prospective validation before clinical use.
Targeted nanopore sequencing enables precise length measurement, base-pair resolution sequencing, and quantitative methylation analysis of D4Z4 arrays in FSHD.
Butterfield et al. (2023) studied this question.
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