In Scientific Reports, researchers describe a new genomic assay based on Nanopore long-amplicon sequencing that rapidly and accurately detects single nucleotide variants in the G6PD gene, which underlies glucose-6-phosphate dehydrogenase deficiency — a condition that can trigger hemolysis when patients receive certain antimalarials like primaquine. By amplifying 2 overlapping regions covering exons 3–13 of the gene and applying a tailored bioinformatics pipeline, the assay could reliably call 192 known variants and was tested in a panel of 79 samples from Cambodia, Vietnam, Afghanistan, and China, with high concordance to standard Sanger sequencing. Its portability, low cost, and rapid turnaround make it a powerful tool for large-scale deficiency screening in low-resource, malaria-endemic settings — enabling better drug policy planning.

Read article: https://www.nature.com/articles/s41598-025-31822-4