Main menu

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.

Authors: Brad Hall, Sawsan Alyafei, Sathishkumar Ramaswamy, Shruti Sinha, Maha El Naofal, Fatma Rabea, Bryan J. Killinger, Gary J. Latham, Ahmad Abou Tayoun

入门指南

购买 MinION 启动包 Nanopore 商城 测序服务提供商 全球代理商

联系我们

Intellectual property Cookie policy Corporate reporting Privacy policy Terms & conditions Accessibility

关于 Oxford Nanopore

Contact us 领导团队 媒体资源和联系方式 投资者 在 Oxford Nanopore 工作 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Chinese flag