A dual-mode targeted nanopore sequencing assay for comprehensive *SMN1* and *SMN2* variant analysis
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- Published on: March 28 2025
- Source: The Journal of Molecular Diagnostics
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.
