Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
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DOI: 10.1002/acn3.51612
Abstract: Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular… read more here.
Keywords: dystrophy; muscular dystrophy; read sequencing; capabilities nanopore ... See more keywords