A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis
Brad Hall, Sawsan Alyafei, Sathishkumar Ramaswamy, Shruti Sinha, Maha El Naofal, Fatma Rabea, Bryan Killinger, Gary J. Latham, Ahmad N. Abou Tayoun
The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.
medRxiv · Feb 22, 2024 · PreprintGenetic & Genomic Medicine