Tonight, I watched Qiliang (Andy) Ding from the Mayo Clinic present at the Nanopore Community Meeting in Boston. The session’s title was “Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing.” Ding is a Laboratory Genomics Fellow. Ding noted that the DMD gene encodes dystrophin, an essential protein for muscle function. This gene is associated with Duchenne muscular dystrophy that is common: 1/3,600 live male births in the United States! Ding explained that intragenic duplications are challenging to interpret. Ding and colleagues wanted to study whether nanopore long-read sequencing can resolve configuration (tandem vs. non-tandem) DMD intergenic duplications? They obtained samples from eight patients with clinically confirmed DMD intragenic duplications. High-coverage sequencing and manual analysis of the gene region were performed. With long-read sequencing, they were able to resolve the structural configuration for all eight samples in the pilot study. The utility of nanopore sequencing was established, according to Ding, and they want to test additional clinical samples with automation. This session shared data from a small study with important implications for this disease.
