Long-read sequencing identifies complex structural variants in DMD patients.

Abstract excerpt

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene. Reports of DMD resulting from complex structural variants involving the DMD gene are rare, partly because such variants are often undetectable by standard diagnostic approaches such as multiplex ligation-dependent probe amplification (MLPA) and short-read whole-exome sequencing (WES). CASE PRESENTATION:...

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