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D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

2025-04-26

Abstract excerpt

The D4Z4 locus is a macrosatellite array on chromosome 4q that normally comprises 8 to >100 3.3-kb repeat units. Its size and repetitiveness render it refractory to most sequencing technologies; consequently its genetic and epigenetic architectures remain incompletely understood despite their relevance to human health, in particular facioscapulohumeral muscular dystrophy (FSHD). Molecular diagnosis for FSHD follow...

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Literature Corpus work
6d8ac48e-3aba-5573-8443-9da15a2ba5de
DOI
10.1101/2025.04.24.25326320
Open publication

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D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohortsDOI 10.1101/2025.04.24.25326320
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