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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 ...
Creator: Arsen Arakelyan
Submitter: Arsen Arakelyan
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