Genetic & Genomic MedicinemedRxivPreprint
A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis
Brad Hall, Sawsan Alyafei, Sathishkumar Ramaswamy…·Ahmad N. Abou Tayoun
The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.
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