Nanopore sequencing of full-length MEFV gene

We aimed to develop an affordable nanopore sequencing method for detecting full-length MEFV gene mutations, which would aid in the diagnosis and screening of FMF.We employed a multiplex amplicon sequencing approach, allowing for the processing of up to 12 samples on both Flow cells and Flongle flow cells. The results demonstrated near-complete concordance between nanopore variant calling and qPCR genotypes. Moreover, nanopore sequencing identified additional variants confirmed by whole exome sequencing.