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Article

Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.

The Journal of molecular diagnostics : JMD - 1 Nov 2021

Stence Aaron A, Thomason Jon G, Pruessner Jonathan A, Sompallae Ramakrishna R, Snow Anthony N, Ma Deqin, Moore Steven A, Bossler Aaron D

Abstract excerpt

The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) relies on detecting contractions of the unique D4Z4 repeat array at the chromosome 4q35 locus in the presence of a permissive 4q35A haplotype. Long, intact DNA molecules are required for accurate sizing of D4Z4 repeats. We validated the use of optical genome mapping to determine size and haplotype of D4Z4 alleles for FSHD analysis. The...

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Share to Chromosome Aberrations
Share to Chromosomes, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genome, Human

Share to Molecular Diagnostic Techniques

Share to Muscular Dystrophy, Facioscapulohumeral

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Source

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Identifiers

PMID: 34384893
DOI: 10.1016/j.jmoldx.2021.07.021
PMCID: PMC8647435

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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