A dual-mode targeted nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis

By combining PCR with Oxford Nanopore sequencing, the authors resolved complex variants in the highly homologous SMN1 and SMN2 genes, achieving 98% genotype concordance across >750 samples. With a turnaround time under 9 hours and a cost below $20 per sample, this scalable approach could broaden access to spinal muscular atrophy screening in resource-limited settings in the future.