Comparison of long-read sequencing strategies for resolving complex genotypes at Facioscapulohumeral dystrophy-associated loci

Abstract excerpt

<h4>Background</h4> Facioscapulohumeral dystrophy (FSHD) is typically caused by contraction of the D4Z4 repeat array at chromosome 4q35 (FSHD1) or pathogenic variants in the SMCHD1 gene (FSHD2). While these account for the majority of cases, 1–2% of patients present with clinical features of FSHD but lack a known genetic cause, revealing a diagnostic gap. In Previous studies, we identified over 70 patients with s...

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• Cardiomyopathy and Myosin Studies
• Congenital Ear and Nasal Anomalies
• Congenital heart defects research
• Genetic Neurodegenerative Diseases
• Genomic variations and chromosomal abnormalities
• Muscle Physiology and Disorders
• Neurogenetic and Muscular Disorders Research
• Williams Syndrome Research

Identifiers and source

Literature Corpus work

65e1ce3c-e386-523a-b93f-3e8229f35cff

DOI

10.1101/2025.08.08.25333030