Detect new variants in known genes

In a subject with Duchenne Muscular Dystrophy (DMD), a 420 kbp segment from chromosome 15 was duplicated in an inverted orientation in intron 44 of the Dystrophin gene. This insertion was not detected by NGS, and while chromosomal microarray can detect the duplication, its location and therefore implication in DMD could not be determined.

Barseghyan H. Bionano mapping for evaluation of structural variants in genetic diseases. ASHG Bionano Symposium. 2019.