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Optical Genome Mapping and Long-Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With

Ryan Gallagher1, Alexya Aguilera2, Sara Acosta Villarreal2

  • 1Department of Pediatrics, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.

American Journal of Medical Genetics. Part A
|March 23, 2026
PubMed
Summary

Advanced genetic sequencing methods like optical genome mapping and long-read sequencing can identify Duchenne muscular dystrophy (DMD) structural variants missed by standard genetic tests, aiding in definitive diagnosis.

Keywords:
DMD geneDuchenne muscular dystrophygenomic inversionlong‐read whole genome sequencingoptical genome mappingstructural variant detection

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