Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy

Abstract excerpt

<h4>Background</h4> Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the DUX4 gene. Traditional diagnostics is based on Southern blot, a time- and effort-intensive method that can be affected by single nucleotide (SNV), and copy nu...

Topics

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• Cardiomyopathy and Myosin Studies
• Chromosome Aberrations
• Chromosomes, Human
• Data Accuracy
• Molecular Diagnostic Techniques
• Muscle Physiology and Disorders
• Muscular Dystrophy, Facioscapulohumeral
• Neurogenetic and Muscular Disorders Research

Identifiers and source

Literature Corpus work

c933b16a-277d-547a-a1ea-2ed65ed62ef3

DOI

10.1101/2023.08.10.23292816